Incidental Mutation 'R9081:Mcf2l'
| ID |
690014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
068900-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13068697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 1120
(Y1120N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173099]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095456
AA Change: Y1094N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: Y1094N
| 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 |
possibly damaging
Transcript: ENSMUST00000110866
AA Change: Y1042N
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: Y1042N
| 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
AA Change: Y1042N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: Y1042N
| 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 damaging
Transcript: ENSMUST00000110876
AA Change: Y1120N
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: Y1120N
| 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 damaging
Transcript: ENSMUST00000110879
AA Change: Y1064N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: Y1064N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442
AA Change: Y233N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: Y751N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442
AA Change: Y134N
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
99 |
156 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145067
AA Change: Y1057N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: Y1057N
| 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 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,502 (GRCm39) |
V271E |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,109,162 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
C |
T |
2: 69,122,388 (GRCm39) |
C365Y |
possibly damaging |
Het |
| Abcd2 |
A |
T |
15: 91,075,772 (GRCm39) |
W14R |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,687,468 (GRCm39) |
D250G |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,985,890 (GRCm39) |
D2391E |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Cbr1 |
G |
T |
16: 93,406,994 (GRCm39) |
G237* |
probably null |
Het |
| Cdr2l |
T |
A |
11: 115,284,939 (GRCm39) |
V425E |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,704,144 (GRCm39) |
K693* |
probably null |
Het |
| Clgn |
T |
G |
8: 84,153,169 (GRCm39) |
D590E |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,291,387 (GRCm39) |
S952T |
unknown |
Het |
| Crip3 |
T |
C |
17: 46,740,959 (GRCm39) |
L90P |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,403,636 (GRCm39) |
S2969P |
probably benign |
Het |
| Dnai2 |
T |
A |
11: 114,629,493 (GRCm39) |
D173E |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,291,060 (GRCm39) |
F257Y |
probably damaging |
Het |
| Egln2 |
A |
G |
7: 26,864,286 (GRCm39) |
V213A |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,504,415 (GRCm39) |
I106T |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,963,571 (GRCm39) |
F379L |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fpgs |
A |
T |
2: 32,577,500 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
G |
2: 32,896,920 (GRCm39) |
D573A |
possibly damaging |
Het |
| Gja8 |
A |
G |
3: 96,826,676 (GRCm39) |
S329P |
probably damaging |
Het |
| Gzf1 |
T |
A |
2: 148,525,317 (GRCm39) |
|
probably benign |
Het |
| Hgs |
T |
A |
11: 120,366,076 (GRCm39) |
|
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,757,048 (GRCm39) |
I245T |
unknown |
Het |
| Ighv1-74 |
C |
A |
12: 115,766,454 (GRCm39) |
W55C |
probably damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,656,006 (GRCm39) |
K131R |
probably null |
Het |
| Kit |
A |
T |
5: 75,801,218 (GRCm39) |
M539L |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,874,952 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lama5 |
A |
T |
2: 179,833,930 (GRCm39) |
C1473* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,025,638 (GRCm39) |
V332A |
possibly damaging |
Het |
| Meioc |
G |
A |
11: 102,565,001 (GRCm39) |
V150M |
probably benign |
Het |
| Mybpc1 |
T |
G |
10: 88,389,168 (GRCm39) |
Y400S |
probably damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,292 (GRCm39) |
|
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,326,224 (GRCm39) |
Y437C |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,814,881 (GRCm39) |
M330L |
probably benign |
Het |
| Or10d4c |
A |
T |
9: 39,558,196 (GRCm39) |
Y58F |
probably damaging |
Het |
| Or5b113 |
C |
T |
19: 13,342,019 (GRCm39) |
T9I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,184,185 (GRCm39) |
Y216H |
probably damaging |
Het |
| Pamr1 |
A |
T |
2: 102,441,933 (GRCm39) |
D174V |
probably damaging |
Het |
| Pdcd1 |
C |
T |
1: 93,968,880 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,059,908 (GRCm39) |
V3343A |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,406 (GRCm39) |
I266F |
probably benign |
Het |
| Poglut2 |
T |
A |
1: 44,153,966 (GRCm39) |
Q161L |
probably benign |
Het |
| Ppp1r12b |
C |
T |
1: 134,705,085 (GRCm39) |
V868I |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,781,825 (GRCm39) |
H325Q |
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,000,989 (GRCm39) |
T1481I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,357,062 (GRCm39) |
D4204V |
|
Het |
| Rps6kl1 |
T |
C |
12: 85,185,881 (GRCm39) |
N409S |
probably damaging |
Het |
| Rundc1 |
T |
G |
11: 101,316,053 (GRCm39) |
W42G |
probably damaging |
Het |
| Sec1 |
C |
T |
7: 45,333,987 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Shc2 |
T |
C |
10: 79,462,762 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
T |
C |
10: 76,877,750 (GRCm39) |
V95A |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,762,447 (GRCm39) |
D333E |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,010,051 (GRCm39) |
R522S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,016,290 (GRCm39) |
Q3291* |
probably null |
Het |
| Taar7e |
G |
A |
10: 23,913,893 (GRCm39) |
V128I |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,717 (GRCm39) |
N555S |
probably benign |
Het |
| Themis |
C |
T |
10: 28,544,582 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,964,010 (GRCm39) |
V945A |
possibly damaging |
Het |
| Tom1 |
G |
A |
8: 75,778,151 (GRCm39) |
V78I |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,935,542 (GRCm39) |
T323A |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,984,236 (GRCm39) |
S414P |
possibly damaging |
Het |
| Vmn1r104 |
G |
A |
7: 20,268,378 (GRCm39) |
S206N |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,940,125 (GRCm39) |
V446E |
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,782,331 (GRCm39) |
K222R |
probably benign |
Het |
| Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
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 |
|
R7414:Mcf2l
|
UTSW |
8 |
13,069,022 (GRCm39) |
makesense |
probably null |
|
|
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 |
|
|
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'- CTCACACATGTCCCTGTGTG -3'
(R):5'- CTTTGCTCTGCACACCTAGAAAC -3'
Sequencing Primer
(F):5'- GTGGTCCCACCTCAGACATGATC -3'
(R):5'- GAAACCCCTCTGCTTTTAAACGGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation