Incidental Mutation 'R7414:Mcf2l'
| ID |
575309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
045494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7414 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 13069022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Lysine
at position 1119
(*1119K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000145067]
[ENSMUST00000110879]
[ENSMUST00000173099]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095456
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
75 |
221 |
1.77e-24 |
SMART |
|
SPEC
|
354 |
455 |
4.41e-15 |
SMART |
|
coiled coil region
|
507 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
594 |
N/A |
INTRINSIC |
|
RhoGEF
|
636 |
811 |
2.83e-63 |
SMART |
|
PH
|
831 |
948 |
8.13e-14 |
SMART |
|
low complexity region
|
966 |
978 |
N/A |
INTRINSIC |
|
SH3
|
1058 |
1115 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098927
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
49 |
195 |
1.77e-24 |
SMART |
|
SPEC
|
328 |
429 |
4.41e-15 |
SMART |
|
coiled coil region
|
481 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
568 |
N/A |
INTRINSIC |
|
RhoGEF
|
610 |
785 |
2.83e-63 |
SMART |
|
PH
|
805 |
922 |
8.13e-14 |
SMART |
|
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110866
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
|
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
|
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
|
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
|
PH
|
779 |
896 |
8.13e-14 |
SMART |
|
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
|
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110867
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
|
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
|
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
|
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
|
PH
|
779 |
896 |
8.13e-14 |
SMART |
|
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
|
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110871
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SEC14
|
43 |
189 |
1.77e-24 |
SMART |
|
SPEC
|
322 |
423 |
4.41e-15 |
SMART |
|
coiled coil region
|
475 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
562 |
N/A |
INTRINSIC |
|
RhoGEF
|
604 |
779 |
2.83e-63 |
SMART |
|
PH
|
799 |
916 |
8.13e-14 |
SMART |
|
low complexity region
|
934 |
946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110873
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
165 |
266 |
4.41e-15 |
SMART |
|
coiled coil region
|
318 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
RhoGEF
|
447 |
622 |
2.83e-63 |
SMART |
|
PH
|
642 |
759 |
8.13e-14 |
SMART |
|
low complexity region
|
777 |
789 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110876
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
|
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
|
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
|
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
|
PH
|
801 |
918 |
8.13e-14 |
SMART |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SH3
|
1084 |
1141 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145067
AA Change: *1119K
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: *1119K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
16 |
132 |
2.4e-12 |
PFAM |
|
SPEC
|
261 |
362 |
4.41e-15 |
SMART |
|
coiled coil region
|
414 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
501 |
N/A |
INTRINSIC |
|
RhoGEF
|
543 |
718 |
2.83e-63 |
SMART |
|
PH
|
738 |
855 |
8.13e-14 |
SMART |
|
low complexity region
|
873 |
885 |
N/A |
INTRINSIC |
|
SH3
|
1021 |
1078 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110879
AA Change: *1126K
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: *1126K
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
|
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
|
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
|
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
|
PH
|
801 |
918 |
8.13e-14 |
SMART |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SH3
|
1028 |
1085 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123811
AA Change: *295K
|
| SMART Domains |
Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442
AA Change: *295K
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
88 |
6.67e-1 |
SMART |
|
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
|
SH3
|
198 |
255 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126905
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
5 |
88 |
8.25e-6 |
SMART |
|
coiled coil region
|
139 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
|
RhoGEF
|
269 |
444 |
2.83e-63 |
SMART |
|
PH
|
464 |
581 |
8.13e-14 |
SMART |
|
low complexity region
|
599 |
611 |
N/A |
INTRINSIC |
|
SH3
|
716 |
773 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134227
|
| SMART Domains |
Protein: ENSMUSP00000116731
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
1 |
81 |
1.5e-7 |
PFAM |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139776
|
| SMART Domains |
Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
99 |
156 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145892
|
| SMART Domains |
Protein: ENSMUSP00000114758
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
2 |
23 |
1e-6 |
BLAST |
|
PDB:1KZG|C
|
2 |
40 |
1e-19 |
PDB |
|
SCOP:d1kz7a2
|
2 |
40 |
6e-7 |
SMART |
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173099
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
41 |
187 |
1.77e-24 |
SMART |
|
SPEC
|
320 |
421 |
4.41e-15 |
SMART |
|
coiled coil region
|
473 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
560 |
N/A |
INTRINSIC |
|
RhoGEF
|
602 |
777 |
2.83e-63 |
SMART |
|
PH
|
797 |
914 |
8.13e-14 |
SMART |
|
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1025 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8581 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (98/101) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,779 (GRCm39) |
T90M |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,896,387 (GRCm39) |
S540T |
probably benign |
Het |
| Adcy4 |
G |
A |
14: 56,019,090 (GRCm39) |
L156F |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,510,256 (GRCm39) |
L95M |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,611,670 (GRCm39) |
T567A |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,485,741 (GRCm39) |
I1378V |
possibly damaging |
Het |
| Ankrd44 |
T |
A |
1: 54,706,539 (GRCm39) |
H639L |
probably damaging |
Het |
| Arfrp1 |
C |
T |
2: 181,001,307 (GRCm39) |
R189Q |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,459,193 (GRCm39) |
D1126G |
possibly damaging |
Het |
| Bap1 |
G |
C |
14: 30,975,572 (GRCm39) |
G139R |
probably benign |
Het |
| Bms1 |
C |
T |
6: 118,360,706 (GRCm39) |
R1254Q |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,235 (GRCm39) |
V94A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,821,998 (GRCm39) |
F209L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,302,596 (GRCm39) |
T144A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,410,611 (GRCm39) |
T87A |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,055,479 (GRCm39) |
I1706L |
probably benign |
Het |
| Cr2 |
C |
A |
1: 194,832,344 (GRCm39) |
V981L |
probably benign |
Het |
| Cxcr6 |
G |
A |
9: 123,639,287 (GRCm39) |
W103* |
probably null |
Het |
| Dld |
A |
T |
12: 31,385,525 (GRCm39) |
F272Y |
probably damaging |
Het |
| Dmrt2 |
T |
A |
19: 25,650,950 (GRCm39) |
D45E |
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,433,502 (GRCm39) |
L8* |
probably null |
Het |
| Epg5 |
G |
T |
18: 78,026,747 (GRCm39) |
R1246L |
possibly damaging |
Het |
| Ets1 |
T |
A |
9: 32,664,153 (GRCm39) |
C350* |
probably null |
Het |
| Fam135b |
C |
T |
15: 71,350,105 (GRCm39) |
R345Q |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,229,122 (GRCm39) |
R696H |
probably damaging |
Het |
| Gbf1 |
C |
A |
19: 46,271,797 (GRCm39) |
Y159* |
probably null |
Het |
| Gcsam |
T |
C |
16: 45,437,301 (GRCm39) |
|
probably null |
Het |
| Gmpr2 |
G |
T |
14: 55,910,259 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
C |
A |
17: 36,498,275 (GRCm39) |
V257L |
not run |
Het |
| Hadha |
A |
G |
5: 30,331,610 (GRCm39) |
F449L |
possibly damaging |
Het |
| Haus3 |
T |
A |
5: 34,323,477 (GRCm39) |
I378L |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,706,392 (GRCm39) |
H272L |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,948,889 (GRCm39) |
V747A |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,370 (GRCm39) |
V81M |
possibly damaging |
Het |
| Insyn2a |
G |
T |
7: 134,519,738 (GRCm39) |
A264D |
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,840,673 (GRCm39) |
C345* |
probably null |
Het |
| Ipmk |
T |
A |
10: 71,217,124 (GRCm39) |
F223I |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,274,706 (GRCm39) |
N825K |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,475,072 (GRCm39) |
K344E |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,836,649 (GRCm39) |
T530I |
|
Het |
| Kmt2d |
C |
T |
15: 98,737,737 (GRCm39) |
V5120M |
unknown |
Het |
| Krt6b |
T |
G |
15: 101,587,449 (GRCm39) |
D215A |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,581,335 (GRCm39) |
K124R |
probably damaging |
Het |
| Lpar6 |
T |
A |
14: 73,476,240 (GRCm39) |
V67D |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,818,883 (GRCm39) |
Y661H |
probably damaging |
Het |
| Lrrc32 |
A |
T |
7: 98,149,201 (GRCm39) |
Q660H |
probably benign |
Het |
| Lurap1l |
T |
A |
4: 80,871,991 (GRCm39) |
H161Q |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,766,189 (GRCm39) |
I245T |
probably damaging |
Het |
| Mertk |
C |
A |
2: 128,571,313 (GRCm39) |
A89E |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 121,011,074 (GRCm39) |
Y375N |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,374,309 (GRCm39) |
D121E |
|
Het |
| N4bp2l1 |
T |
A |
5: 150,499,758 (GRCm39) |
N116I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,756 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,289,977 (GRCm39) |
D178E |
probably benign |
Het |
| Nt5c2 |
C |
A |
19: 46,878,328 (GRCm39) |
G444C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,349 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2f1b |
T |
A |
6: 42,739,762 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,764 (GRCm39) |
F64L |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,460,359 (GRCm39) |
S220A |
possibly damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,247 (GRCm39) |
S138P |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,866,267 (GRCm39) |
N979K |
|
Het |
| Prkcb |
A |
T |
7: 122,167,450 (GRCm39) |
T387S |
possibly damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,821,135 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
C |
T |
7: 109,913,271 (GRCm39) |
E1668K |
possibly damaging |
Het |
| Sec16a |
T |
G |
2: 26,313,643 (GRCm39) |
T455P |
|
Het |
| Sec24b |
C |
A |
3: 129,803,514 (GRCm39) |
V412F |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,145 (GRCm39) |
N220S |
probably benign |
Het |
| Sgip1 |
C |
T |
4: 102,824,821 (GRCm39) |
Q581* |
probably null |
Het |
| Shf |
A |
T |
2: 122,190,063 (GRCm39) |
I175N |
possibly damaging |
Het |
| Slc16a10 |
G |
A |
10: 40,017,992 (GRCm39) |
T14M |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,254 (GRCm39) |
M258K |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,618 (GRCm39) |
Y308* |
probably null |
Het |
| Slfnl1 |
T |
C |
4: 120,392,451 (GRCm39) |
Y249H |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,782,074 (GRCm39) |
Y29C |
probably damaging |
Het |
| Snai1 |
C |
A |
2: 167,380,588 (GRCm39) |
|
probably null |
Het |
| Sntg1 |
T |
C |
1: 8,518,289 (GRCm39) |
Y368C |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,365,334 (GRCm39) |
V126M |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,715 (GRCm39) |
Y87F |
probably damaging |
Het |
| Tarm1 |
C |
A |
7: 3,545,318 (GRCm39) |
M177I |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,819,786 (GRCm39) |
F485L |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,556,717 (GRCm39) |
I435F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,128 (GRCm39) |
V15A |
probably benign |
Het |
| Tll2 |
T |
C |
19: 41,092,268 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem117 |
A |
G |
15: 94,612,776 (GRCm39) |
D104G |
probably damaging |
Het |
| Tmem132b |
T |
C |
5: 125,864,555 (GRCm39) |
L887P |
probably damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,168,642 (GRCm39) |
V132D |
probably damaging |
Het |
| Tomt |
T |
A |
7: 101,549,715 (GRCm39) |
D191V |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,160,459 (GRCm39) |
M373V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,568,493 (GRCm39) |
P27467S |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,573,130 (GRCm39) |
V25921G |
probably damaging |
Het |
| Ubxn2a |
A |
C |
12: 4,941,381 (GRCm39) |
V75G |
probably damaging |
Het |
| Uchl5 |
A |
T |
1: 143,682,433 (GRCm39) |
K319N |
unknown |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,693 (GRCm39) |
D222G |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,446 (GRCm39) |
I10V |
unknown |
Het |
| Vps13b |
T |
C |
15: 35,910,973 (GRCm39) |
I3579T |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,295 (GRCm39) |
H443Q |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,250,407 (GRCm39) |
M2T |
unknown |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,251,359 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Mcf2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Mcf2l
|
APN |
8 |
13,050,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00426:Mcf2l
|
APN |
8 |
13,034,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01391:Mcf2l
|
APN |
8 |
13,064,010 (GRCm39) |
splice site |
probably null |
|
|
IGL01795:Mcf2l
|
APN |
8 |
13,050,749 (GRCm39) |
splice site |
probably null |
|
|
IGL02314:Mcf2l
|
APN |
8 |
13,051,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02716:Mcf2l
|
APN |
8 |
13,047,277 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02985:Mcf2l
|
APN |
8 |
13,013,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Mcf2l
|
APN |
8 |
13,050,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03308:Mcf2l
|
APN |
8 |
13,059,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Mcf2l
|
APN |
8 |
13,051,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0022:Mcf2l
|
UTSW |
8 |
13,068,897 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Mcf2l
|
UTSW |
8 |
13,056,766 (GRCm39) |
unclassified |
probably benign |
|
|
R0067:Mcf2l
|
UTSW |
8 |
13,063,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0110:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Mcf2l
|
UTSW |
8 |
13,046,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0591:Mcf2l
|
UTSW |
8 |
13,068,751 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0801:Mcf2l
|
UTSW |
8 |
13,064,020 (GRCm39) |
intron |
probably benign |
|
|
R0962:Mcf2l
|
UTSW |
8 |
13,051,964 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1084:Mcf2l
|
UTSW |
8 |
13,052,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1794:Mcf2l
|
UTSW |
8 |
12,965,982 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2111:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3785:Mcf2l
|
UTSW |
8 |
12,930,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4777:Mcf2l
|
UTSW |
8 |
13,068,051 (GRCm39) |
splice site |
probably null |
|
|
R4858:Mcf2l
|
UTSW |
8 |
13,063,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Mcf2l
|
UTSW |
8 |
13,034,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Mcf2l
|
UTSW |
8 |
13,061,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Mcf2l
|
UTSW |
8 |
12,965,959 (GRCm39) |
intron |
probably benign |
|
|
R5158:Mcf2l
|
UTSW |
8 |
13,059,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Mcf2l
|
UTSW |
8 |
12,976,646 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5569:Mcf2l
|
UTSW |
8 |
13,055,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Mcf2l
|
UTSW |
8 |
13,060,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5668:Mcf2l
|
UTSW |
8 |
13,063,812 (GRCm39) |
nonsense |
probably null |
|
|
R5753:Mcf2l
|
UTSW |
8 |
13,049,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Mcf2l
|
UTSW |
8 |
13,043,937 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5946:Mcf2l
|
UTSW |
8 |
13,063,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Mcf2l
|
UTSW |
8 |
13,051,823 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6174:Mcf2l
|
UTSW |
8 |
13,063,849 (GRCm39) |
nonsense |
probably null |
|
|
R6212:Mcf2l
|
UTSW |
8 |
13,067,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Mcf2l
|
UTSW |
8 |
13,068,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6383:Mcf2l
|
UTSW |
8 |
12,929,912 (GRCm39) |
start gained |
probably benign |
|
|
R6850:Mcf2l
|
UTSW |
8 |
13,059,476 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6908:Mcf2l
|
UTSW |
8 |
13,068,919 (GRCm39) |
missense |
probably benign |
|
|
R7101:Mcf2l
|
UTSW |
8 |
13,063,579 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7163:Mcf2l
|
UTSW |
8 |
12,965,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7203:Mcf2l
|
UTSW |
8 |
13,060,456 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7553:Mcf2l
|
UTSW |
8 |
13,047,268 (GRCm39) |
missense |
probably benign |
|
|
R7556:Mcf2l
|
UTSW |
8 |
13,023,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7688:Mcf2l
|
UTSW |
8 |
12,998,130 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7776:Mcf2l
|
UTSW |
8 |
12,930,127 (GRCm39) |
missense |
probably benign |
|
|
R7947:Mcf2l
|
UTSW |
8 |
13,053,529 (GRCm39) |
splice site |
probably null |
|
|
R8077:Mcf2l
|
UTSW |
8 |
13,048,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8083:Mcf2l
|
UTSW |
8 |
13,057,875 (GRCm39) |
splice site |
probably null |
|
|
R8133:Mcf2l
|
UTSW |
8 |
13,061,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Mcf2l
|
UTSW |
8 |
13,013,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8453:Mcf2l
|
UTSW |
8 |
13,034,956 (GRCm39) |
splice site |
probably null |
|
|
R8520:Mcf2l
|
UTSW |
8 |
12,930,089 (GRCm39) |
missense |
probably benign |
|
|
R8865:Mcf2l
|
UTSW |
8 |
12,930,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8895:Mcf2l
|
UTSW |
8 |
13,034,330 (GRCm39) |
intron |
probably benign |
|
|
R9081:Mcf2l
|
UTSW |
8 |
13,068,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9143:Mcf2l
|
UTSW |
8 |
13,062,883 (GRCm39) |
splice site |
probably benign |
|
|
R9219:Mcf2l
|
UTSW |
8 |
13,061,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9229:Mcf2l
|
UTSW |
8 |
13,063,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9335:Mcf2l
|
UTSW |
8 |
13,050,812 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9351:Mcf2l
|
UTSW |
8 |
13,050,757 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9406:Mcf2l
|
UTSW |
8 |
13,059,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Mcf2l
|
UTSW |
8 |
13,023,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9618:Mcf2l
|
UTSW |
8 |
13,034,320 (GRCm39) |
intron |
probably benign |
|
|
X0052:Mcf2l
|
UTSW |
8 |
13,068,713 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Mcf2l
|
UTSW |
8 |
13,059,654 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCCGTTTAAAAGCAGAG -3'
(R):5'- TCTCCTGGCATCTGCATATG -3'
Sequencing Primer
(F):5'- CCCGTTTAAAAGCAGAGGGGTTTC -3'
(R):5'- AATGTCCTCTGAAGCCCATGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation