Incidental Mutation 'R8900:Sema6a'
ID |
679938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sema6a
|
Ensembl Gene |
ENSMUSG00000019647 |
Gene Name |
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A |
Synonyms |
VIa, Semaq, Sema6A-1, sema, A730020P05Rik |
MMRRC Submission |
068757-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8900 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
47378321-47504267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 47424182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 242
(E242A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019791]
[ENSMUST00000076043]
[ENSMUST00000115449]
[ENSMUST00000126684]
[ENSMUST00000135790]
[ENSMUST00000156422]
|
AlphaFold |
O35464 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019791
AA Change: E242A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019791 Gene: ENSMUSG00000019647 AA Change: E242A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Sema
|
56 |
487 |
1.06e-185 |
SMART |
PSI
|
514 |
569 |
9.57e-1 |
SMART |
transmembrane domain
|
648 |
670 |
N/A |
INTRINSIC |
low complexity region
|
932 |
951 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076043
AA Change: E242A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075420 Gene: ENSMUSG00000019647 AA Change: E242A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Sema
|
56 |
487 |
1.06e-185 |
SMART |
PSI
|
514 |
569 |
9.57e-1 |
SMART |
transmembrane domain
|
593 |
615 |
N/A |
INTRINSIC |
low complexity region
|
877 |
896 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115449
AA Change: E242A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111109 Gene: ENSMUSG00000019647 AA Change: E242A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Sema
|
56 |
461 |
1.24e-168 |
SMART |
PSI
|
488 |
543 |
9.57e-1 |
SMART |
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
low complexity region
|
906 |
925 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126684
|
SMART Domains |
Protein: ENSMUSP00000118655 Gene: ENSMUSG00000019647
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Sema
|
56 |
216 |
2.5e-51 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135790
AA Change: E242A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120011 Gene: ENSMUSG00000019647 AA Change: E242A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Sema
|
56 |
487 |
1.06e-185 |
SMART |
PSI
|
514 |
569 |
9.57e-1 |
SMART |
transmembrane domain
|
665 |
687 |
N/A |
INTRINSIC |
low complexity region
|
949 |
968 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156422
AA Change: E242A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121442 Gene: ENSMUSG00000019647 AA Change: E242A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Sema
|
56 |
487 |
1.06e-185 |
SMART |
PSI
|
514 |
569 |
9.57e-1 |
SMART |
transmembrane domain
|
648 |
670 |
N/A |
INTRINSIC |
low complexity region
|
932 |
951 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (63/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit defects in lamina-specific neurite stratification of specific retinal neuron subtypes and disruption of the dendritic plexus organization of On but not Off starburst amacrine cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,045,218 (GRCm39) |
T372A |
probably benign |
Het |
Adamts8 |
C |
A |
9: 30,865,930 (GRCm39) |
R493S |
probably benign |
Het |
Ankrd33b |
G |
A |
15: 31,297,830 (GRCm39) |
T309I |
probably damaging |
Het |
Arhgap22 |
G |
A |
14: 32,993,880 (GRCm39) |
W58* |
probably null |
Het |
B4galt4 |
C |
T |
16: 38,572,404 (GRCm39) |
|
probably benign |
Het |
Bcl2a1a |
A |
T |
9: 88,839,311 (GRCm39) |
I70L |
probably benign |
Het |
Bst1 |
A |
G |
5: 43,977,942 (GRCm39) |
D97G |
possibly damaging |
Het |
Cand2 |
C |
T |
6: 115,757,894 (GRCm39) |
T52M |
probably benign |
Het |
Cd101 |
C |
A |
3: 100,926,062 (GRCm39) |
R219L |
probably benign |
Het |
Cd5l |
T |
A |
3: 87,274,882 (GRCm39) |
D140E |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,904,197 (GRCm39) |
|
probably benign |
Het |
Cebpa |
A |
G |
7: 34,819,906 (GRCm39) |
M355V |
possibly damaging |
Het |
Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
Clec4a4 |
A |
G |
6: 123,000,875 (GRCm39) |
E196G |
probably damaging |
Het |
Cpxm1 |
T |
A |
2: 130,235,360 (GRCm39) |
D544V |
probably damaging |
Het |
Cwf19l2 |
T |
A |
9: 3,447,245 (GRCm39) |
D535E |
probably benign |
Het |
Daw1 |
T |
G |
1: 83,175,898 (GRCm39) |
L212R |
probably benign |
Het |
Dnm3 |
T |
A |
1: 162,135,445 (GRCm39) |
T443S |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,817,940 (GRCm39) |
D1627G |
probably damaging |
Het |
Dohh |
A |
G |
10: 81,223,735 (GRCm39) |
I263V |
probably benign |
Het |
Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
Dus4l |
G |
T |
12: 31,690,692 (GRCm39) |
L320I |
possibly damaging |
Het |
Edc4 |
A |
C |
8: 106,617,857 (GRCm39) |
Q1139P |
probably damaging |
Het |
Fam220a |
T |
A |
5: 143,549,228 (GRCm39) |
C213* |
probably null |
Het |
Fgf14 |
A |
T |
14: 124,221,326 (GRCm39) |
Y159* |
probably null |
Het |
Gm45861 |
A |
T |
8: 28,019,632 (GRCm39) |
D749V |
unknown |
Het |
Hip1 |
T |
C |
5: 135,459,144 (GRCm39) |
T203A |
probably benign |
Het |
Igfals |
A |
G |
17: 25,099,014 (GRCm39) |
D35G |
possibly damaging |
Het |
Itga4 |
T |
A |
2: 79,145,332 (GRCm39) |
I716K |
probably damaging |
Het |
Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
Ndufb3 |
T |
C |
1: 58,634,824 (GRCm39) |
Y59H |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,665,023 (GRCm39) |
H399R |
probably damaging |
Het |
Nxph1 |
T |
C |
6: 9,247,601 (GRCm39) |
S191P |
probably damaging |
Het |
Or13c7e-ps1 |
G |
T |
4: 43,781,432 (GRCm39) |
S299R |
probably benign |
Het |
Or1p1 |
T |
C |
11: 74,180,413 (GRCm39) |
S314P |
probably damaging |
Het |
Pcdha11 |
T |
G |
18: 37,145,799 (GRCm39) |
I630S |
probably damaging |
Het |
Pfkl |
C |
G |
10: 77,836,615 (GRCm39) |
G134A |
probably damaging |
Het |
Phf19 |
A |
T |
2: 34,795,484 (GRCm39) |
C196S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,248,096 (GRCm39) |
K468R |
probably benign |
Het |
Plekhn1 |
T |
C |
4: 156,310,078 (GRCm39) |
S79G |
possibly damaging |
Het |
Pomk |
A |
G |
8: 26,473,384 (GRCm39) |
Y190H |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,838,778 (GRCm39) |
E33D |
probably damaging |
Het |
Raly |
A |
T |
2: 154,705,493 (GRCm39) |
I174F |
probably damaging |
Het |
Rint1 |
T |
C |
5: 24,016,882 (GRCm39) |
V549A |
possibly damaging |
Het |
Rnf31 |
T |
G |
14: 55,833,689 (GRCm39) |
C566G |
probably damaging |
Het |
Scart1 |
G |
A |
7: 139,808,478 (GRCm39) |
W796* |
probably null |
Het |
Sdc1 |
C |
T |
12: 8,840,460 (GRCm39) |
T79I |
possibly damaging |
Het |
Slc22a30 |
A |
C |
19: 8,315,340 (GRCm39) |
M430R |
probably damaging |
Het |
Sp9 |
C |
A |
2: 73,103,863 (GRCm39) |
T139K |
probably benign |
Het |
Tbkbp1 |
T |
C |
11: 97,040,327 (GRCm39) |
D29G |
probably benign |
Het |
Tcf4 |
T |
C |
18: 69,697,761 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,689,437 (GRCm39) |
I2050N |
probably damaging |
Het |
Tiparp |
T |
A |
3: 65,460,603 (GRCm39) |
F531I |
probably damaging |
Het |
Tmem132b |
A |
T |
5: 125,855,884 (GRCm39) |
I539F |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,859,956 (GRCm39) |
D666G |
probably damaging |
Het |
Vmn1r51 |
T |
C |
6: 90,106,842 (GRCm39) |
S253P |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,261,924 (GRCm39) |
I402T |
probably damaging |
Het |
Vmn2r16 |
T |
C |
5: 109,511,619 (GRCm39) |
Y609H |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,575,863 (GRCm39) |
M245L |
probably benign |
Het |
Vmn2r42 |
C |
T |
7: 8,197,792 (GRCm39) |
E276K |
probably benign |
Het |
Wdr75 |
C |
A |
1: 45,838,287 (GRCm39) |
N65K |
probably damaging |
Het |
Zbtb47 |
A |
C |
9: 121,596,705 (GRCm39) |
K687T |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,463,924 (GRCm39) |
S1361P |
probably damaging |
Het |
Zfp317 |
T |
A |
9: 19,558,708 (GRCm39) |
C396* |
probably null |
Het |
|
Other mutations in Sema6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Sema6a
|
APN |
18 |
47,423,042 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01351:Sema6a
|
APN |
18 |
47,414,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL01594:Sema6a
|
APN |
18 |
47,381,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01953:Sema6a
|
APN |
18 |
47,423,187 (GRCm39) |
nonsense |
probably null |
|
IGL02077:Sema6a
|
APN |
18 |
47,416,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02632:Sema6a
|
APN |
18 |
47,423,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02957:Sema6a
|
APN |
18 |
47,382,291 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03013:Sema6a
|
APN |
18 |
47,381,461 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03279:Sema6a
|
APN |
18 |
47,433,157 (GRCm39) |
nonsense |
probably null |
|
saphire
|
UTSW |
18 |
47,439,496 (GRCm39) |
nonsense |
probably null |
|
IGL02988:Sema6a
|
UTSW |
18 |
47,431,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R0114:Sema6a
|
UTSW |
18 |
47,423,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0311:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0312:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0347:Sema6a
|
UTSW |
18 |
47,424,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R0350:Sema6a
|
UTSW |
18 |
47,403,785 (GRCm39) |
missense |
probably benign |
|
R0366:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0368:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0391:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0403:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0466:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0515:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0517:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0542:Sema6a
|
UTSW |
18 |
47,381,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R0557:Sema6a
|
UTSW |
18 |
47,382,567 (GRCm39) |
missense |
probably benign |
0.01 |
R0569:Sema6a
|
UTSW |
18 |
47,403,872 (GRCm39) |
splice site |
probably null |
|
R0650:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0689:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0694:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0726:Sema6a
|
UTSW |
18 |
47,425,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R0741:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0821:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0824:Sema6a
|
UTSW |
18 |
47,423,112 (GRCm39) |
splice site |
probably null |
|
R0924:Sema6a
|
UTSW |
18 |
47,381,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R1108:Sema6a
|
UTSW |
18 |
47,439,498 (GRCm39) |
missense |
probably benign |
0.02 |
R1255:Sema6a
|
UTSW |
18 |
47,382,366 (GRCm39) |
missense |
probably damaging |
0.98 |
R1422:Sema6a
|
UTSW |
18 |
47,439,498 (GRCm39) |
missense |
probably benign |
0.02 |
R1531:Sema6a
|
UTSW |
18 |
47,382,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R1707:Sema6a
|
UTSW |
18 |
47,416,512 (GRCm39) |
missense |
probably benign |
0.04 |
R1746:Sema6a
|
UTSW |
18 |
47,439,416 (GRCm39) |
splice site |
probably benign |
|
R1807:Sema6a
|
UTSW |
18 |
47,409,491 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1974:Sema6a
|
UTSW |
18 |
47,403,696 (GRCm39) |
missense |
probably benign |
0.04 |
R1987:Sema6a
|
UTSW |
18 |
47,433,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R2044:Sema6a
|
UTSW |
18 |
47,439,496 (GRCm39) |
nonsense |
probably null |
|
R3719:Sema6a
|
UTSW |
18 |
47,382,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Sema6a
|
UTSW |
18 |
47,439,524 (GRCm39) |
utr 5 prime |
probably benign |
|
R4552:Sema6a
|
UTSW |
18 |
47,424,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Sema6a
|
UTSW |
18 |
47,381,779 (GRCm39) |
missense |
probably benign |
0.43 |
R4710:Sema6a
|
UTSW |
18 |
47,403,750 (GRCm39) |
missense |
probably benign |
0.00 |
R4713:Sema6a
|
UTSW |
18 |
47,382,363 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4963:Sema6a
|
UTSW |
18 |
47,431,318 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5088:Sema6a
|
UTSW |
18 |
47,382,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:Sema6a
|
UTSW |
18 |
47,433,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Sema6a
|
UTSW |
18 |
47,424,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R5141:Sema6a
|
UTSW |
18 |
47,381,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R5277:Sema6a
|
UTSW |
18 |
47,409,611 (GRCm39) |
intron |
probably benign |
|
R5551:Sema6a
|
UTSW |
18 |
47,381,595 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5618:Sema6a
|
UTSW |
18 |
47,415,015 (GRCm39) |
missense |
probably damaging |
0.98 |
R5717:Sema6a
|
UTSW |
18 |
47,382,330 (GRCm39) |
missense |
probably benign |
0.01 |
R5729:Sema6a
|
UTSW |
18 |
47,414,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R5779:Sema6a
|
UTSW |
18 |
47,381,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R5917:Sema6a
|
UTSW |
18 |
47,414,405 (GRCm39) |
missense |
probably benign |
0.05 |
R6054:Sema6a
|
UTSW |
18 |
47,416,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6142:Sema6a
|
UTSW |
18 |
47,414,266 (GRCm39) |
missense |
probably benign |
0.00 |
R6209:Sema6a
|
UTSW |
18 |
47,431,369 (GRCm39) |
splice site |
probably null |
|
R6307:Sema6a
|
UTSW |
18 |
47,382,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R6734:Sema6a
|
UTSW |
18 |
47,412,236 (GRCm39) |
missense |
probably benign |
0.31 |
R7014:Sema6a
|
UTSW |
18 |
47,431,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Sema6a
|
UTSW |
18 |
47,381,637 (GRCm39) |
missense |
probably damaging |
0.96 |
R7574:Sema6a
|
UTSW |
18 |
47,424,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Sema6a
|
UTSW |
18 |
47,424,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R8250:Sema6a
|
UTSW |
18 |
47,423,182 (GRCm39) |
missense |
probably damaging |
0.99 |
R8408:Sema6a
|
UTSW |
18 |
47,381,958 (GRCm39) |
missense |
probably benign |
0.34 |
R8411:Sema6a
|
UTSW |
18 |
47,382,022 (GRCm39) |
missense |
probably benign |
0.00 |
R9140:Sema6a
|
UTSW |
18 |
47,415,009 (GRCm39) |
missense |
probably benign |
|
R9158:Sema6a
|
UTSW |
18 |
47,431,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R9488:Sema6a
|
UTSW |
18 |
47,437,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R9565:Sema6a
|
UTSW |
18 |
47,382,594 (GRCm39) |
missense |
probably null |
1.00 |
R9652:Sema6a
|
UTSW |
18 |
47,382,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Sema6a
|
UTSW |
18 |
47,381,925 (GRCm39) |
missense |
probably damaging |
0.96 |
X0065:Sema6a
|
UTSW |
18 |
47,416,386 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGTTTCCAGACAGCTTAGTC -3'
(R):5'- TAGCGCTTGCACTTCTGAAGTC -3'
Sequencing Primer
(F):5'- AGACAGCTTAGTCTGTCACTTCTGG -3'
(R):5'- GTGTTAACCACATGTCTAATAGCCC -3'
|
Posted On |
2021-08-31 |