Incidental Mutation 'R5655:Mcf2l'
| ID |
442259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
043301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13060444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 764
(E764G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173006]
[ENSMUST00000173099]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095456
AA Change: E790G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: E790G
| 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 damaging
Transcript: ENSMUST00000098927
AA Change: E764G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: E764G
| 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
AA Change: E738G
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: E738G
| 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 |
possibly damaging
Transcript: ENSMUST00000110867
AA Change: E738G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: E738G
| 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
AA Change: E758G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: E758G
| 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 |
possibly damaging
Transcript: ENSMUST00000110873
AA Change: E601G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: E601G
| 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 |
possibly damaging
Transcript: ENSMUST00000110876
AA Change: E760G
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: E760G
| 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 |
unknown
Transcript: ENSMUST00000126905
AA Change: E422G
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: E422G
| 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: ENSMUST00000110879
AA Change: E760G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: E760G
| 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 benign
Transcript: ENSMUST00000145067
AA Change: E697G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: E697G
| 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: ENSMUST00000173006
AA Change: E669G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: E669G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
1 |
104 |
1.3e-12 |
PFAM |
|
SPEC
|
233 |
334 |
4.41e-15 |
SMART |
|
coiled coil region
|
386 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
RhoGEF
|
515 |
690 |
2.83e-63 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173099
AA Change: E756G
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: E756G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127229
|
| 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: ENSMUST00000123811
|
| SMART Domains |
Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
A |
5: 103,796,746 (GRCm39) |
I99F |
probably benign |
Het |
| Acan |
G |
A |
7: 78,749,791 (GRCm39) |
D1521N |
possibly damaging |
Het |
| Acap3 |
C |
T |
4: 155,981,076 (GRCm39) |
T53I |
probably benign |
Het |
| Actr3b |
G |
T |
5: 26,053,366 (GRCm39) |
V232F |
probably damaging |
Het |
| Adgrl1 |
G |
A |
8: 84,665,230 (GRCm39) |
V1311M |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,343,372 (GRCm39) |
|
probably null |
Het |
| Asns |
A |
C |
6: 7,685,309 (GRCm39) |
M116R |
probably benign |
Het |
| Asprv1 |
A |
T |
6: 86,605,464 (GRCm39) |
E103D |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,885,489 (GRCm39) |
I232T |
probably damaging |
Het |
| B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,329,789 (GRCm39) |
Y414H |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,974,387 (GRCm39) |
T2309M |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,507,333 (GRCm39) |
F361I |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,626,029 (GRCm39) |
|
probably null |
Het |
| Cog4 |
A |
G |
8: 111,589,939 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cplx3 |
C |
T |
9: 57,523,258 (GRCm39) |
V100M |
probably damaging |
Het |
| Cyp4a12b |
C |
G |
4: 115,290,994 (GRCm39) |
H341D |
probably damaging |
Het |
| Ddx10 |
A |
T |
9: 53,120,987 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,431,424 (GRCm39) |
Y414F |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,595,496 (GRCm39) |
K1445R |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,148,659 (GRCm39) |
D928E |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,644 (GRCm39) |
|
probably null |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,429,828 (GRCm39) |
N36D |
probably benign |
Het |
| Fmnl3 |
A |
T |
15: 99,219,743 (GRCm39) |
F668L |
probably damaging |
Het |
| Foxl2 |
C |
T |
9: 98,838,048 (GRCm39) |
P112L |
probably damaging |
Het |
| Foxp2 |
T |
G |
6: 15,197,112 (GRCm39) |
H51Q |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,323 (GRCm39) |
T539S |
probably benign |
Het |
| Ftcd |
G |
T |
10: 76,423,937 (GRCm39) |
G493C |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,099 (GRCm39) |
S230G |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,073,750 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,637,975 (GRCm39) |
I350L |
probably benign |
Het |
| Idh2 |
A |
C |
7: 79,747,996 (GRCm39) |
C235G |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,264,038 (GRCm39) |
L514F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lamc3 |
C |
A |
2: 31,815,729 (GRCm39) |
R1142S |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,603,853 (GRCm39) |
H276L |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,389,381 (GRCm39) |
I2015L |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,838,326 (GRCm39) |
M749I |
probably benign |
Het |
| Msh2 |
C |
T |
17: 88,026,871 (GRCm39) |
A789V |
possibly damaging |
Het |
| Ndufa2 |
T |
C |
18: 36,877,519 (GRCm39) |
I19V |
probably benign |
Het |
| Neurod4 |
T |
A |
10: 130,107,002 (GRCm39) |
K91* |
probably null |
Het |
| Nos1 |
G |
T |
5: 118,061,322 (GRCm39) |
G883C |
probably damaging |
Het |
| Npdc1 |
A |
T |
2: 25,297,692 (GRCm39) |
H121L |
possibly damaging |
Het |
| Or2ak5 |
G |
A |
11: 58,611,077 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or3a10 |
A |
C |
11: 73,935,160 (GRCm39) |
Y313* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,450,636 (GRCm39) |
I123V |
probably benign |
Het |
| P2ry13 |
C |
T |
3: 59,117,260 (GRCm39) |
V173M |
possibly damaging |
Het |
| Pigk |
T |
A |
3: 152,445,858 (GRCm39) |
N156K |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,286,680 (GRCm39) |
F569Y |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,063,889 (GRCm39) |
|
probably null |
Het |
| Plk3 |
A |
G |
4: 116,988,677 (GRCm39) |
L324P |
probably damaging |
Het |
| Pom121 |
A |
G |
5: 135,421,171 (GRCm39) |
S260P |
unknown |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Prrt2 |
G |
A |
7: 126,618,574 (GRCm39) |
A297V |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,857 (GRCm39) |
V308E |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,517,806 (GRCm39) |
I139V |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,999,772 (GRCm39) |
M621L |
probably benign |
Het |
| Rab6a |
G |
A |
7: 100,257,501 (GRCm39) |
|
probably null |
Het |
| Ranbp1 |
C |
T |
16: 18,059,669 (GRCm39) |
D127N |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,032 (GRCm39) |
R272L |
probably damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,859 (GRCm39) |
L314P |
probably damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,606,218 (GRCm39) |
M709L |
probably benign |
Het |
| Smarcc1 |
A |
T |
9: 109,986,412 (GRCm39) |
S238C |
probably null |
Het |
| Snx29 |
C |
T |
16: 11,573,185 (GRCm39) |
L476F |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,194,618 (GRCm39) |
|
probably null |
Het |
| St6galnac2 |
T |
C |
11: 116,575,972 (GRCm39) |
N160D |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,671 (GRCm39) |
|
probably null |
Het |
| Trpc4ap |
G |
A |
2: 155,495,547 (GRCm39) |
T306I |
possibly damaging |
Het |
| Ubr5 |
T |
G |
15: 38,015,337 (GRCm39) |
Y891S |
probably damaging |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,298 (GRCm39) |
F133L |
probably benign |
Het |
| Vmn1r56 |
T |
A |
7: 5,198,700 (GRCm39) |
I306F |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,315 (GRCm39) |
V193A |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,354 (GRCm39) |
V239E |
probably damaging |
Het |
| Zfp7 |
G |
T |
15: 76,775,629 (GRCm39) |
C557F |
probably 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 |
|
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 |
|
|
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'- CTGACAAGCAGCAGGAATCTG -3'
(R):5'- GCTAGGATTTCCCTATCAAACTGC -3'
Sequencing Primer
(F):5'- CAGGAATCTGGTGTTGGTGTGC -3'
(R):5'- ACTGCTTATGAGACAAGGACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation