Incidental Mutation 'IGL00336:Sema6a'
| ID |
3328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
47378321-47504267 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 47423042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019791]
[ENSMUST00000019791]
[ENSMUST00000076043]
[ENSMUST00000115449]
[ENSMUST00000126684]
[ENSMUST00000135790]
[ENSMUST00000156422]
|
| AlphaFold |
O35464 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019791
|
| SMART Domains |
Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
| 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 null
Transcript: ENSMUST00000019791
|
| SMART Domains |
Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
| 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 null
Transcript: ENSMUST00000076043
|
| SMART Domains |
Protein: ENSMUSP00000075420
Gene: ENSMUSG00000019647
| 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 null
Transcript: ENSMUST00000115449
|
| SMART Domains |
Protein: ENSMUSP00000111109
Gene: ENSMUSG00000019647
| 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 null
Transcript: ENSMUST00000135790
|
| SMART Domains |
Protein: ENSMUSP00000120011
Gene: ENSMUSG00000019647
| 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 |
noncoding transcript
Transcript: ENSMUST00000141224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151382
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156422
|
| SMART Domains |
Protein: ENSMUSP00000121442
Gene: ENSMUSG00000019647
| 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 |
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,366 (GRCm39) |
Y417C |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,859,569 (GRCm39) |
H548L |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,823,771 (GRCm39) |
D812V |
probably damaging |
Het |
| Aopep |
A |
T |
13: 63,163,237 (GRCm39) |
D86V |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,098,203 (GRCm39) |
L305Q |
probably damaging |
Het |
| Arhgef38 |
A |
G |
3: 132,837,812 (GRCm39) |
V706A |
probably benign |
Het |
| Arl15 |
A |
G |
13: 114,291,288 (GRCm39) |
I171V |
probably benign |
Het |
| Cacna1s |
C |
A |
1: 136,012,011 (GRCm39) |
Y237* |
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,990 (GRCm39) |
T61A |
possibly damaging |
Het |
| Col25a1 |
T |
A |
3: 129,975,433 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,290,077 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
T |
C |
3: 35,970,455 (GRCm39) |
E130G |
possibly damaging |
Het |
| Dnah7b |
G |
A |
1: 46,181,309 (GRCm39) |
M1065I |
probably benign |
Het |
| Ephb2 |
T |
G |
4: 136,384,795 (GRCm39) |
K872T |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,981 (GRCm39) |
G452D |
probably damaging |
Het |
| Flrt1 |
T |
A |
19: 7,074,277 (GRCm39) |
N90I |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,685,319 (GRCm39) |
|
probably null |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,549,000 (GRCm39) |
|
probably benign |
Het |
| Gprc5d |
G |
A |
6: 135,093,488 (GRCm39) |
Q140* |
probably null |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,476 (GRCm39) |
K237R |
unknown |
Het |
| Ipo8 |
A |
T |
6: 148,684,284 (GRCm39) |
M836K |
possibly damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Lama1 |
A |
T |
17: 68,120,943 (GRCm39) |
H2693L |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,889 (GRCm39) |
W40R |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,485,196 (GRCm39) |
D67G |
probably damaging |
Het |
| Morn2 |
C |
A |
17: 80,602,933 (GRCm39) |
|
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,506,854 (GRCm39) |
N214K |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,039,892 (GRCm39) |
S527C |
probably damaging |
Het |
| Ndst1 |
C |
T |
18: 60,841,028 (GRCm39) |
G218D |
probably damaging |
Het |
| Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
| Or5b94 |
T |
A |
19: 12,651,924 (GRCm39) |
Y118* |
probably null |
Het |
| Or8h7 |
C |
T |
2: 86,720,589 (GRCm39) |
C310Y |
probably benign |
Het |
| Oxa1l |
G |
T |
14: 54,600,802 (GRCm39) |
G92* |
probably null |
Het |
| Parp16 |
A |
T |
9: 65,137,245 (GRCm39) |
E157V |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,684,984 (GRCm39) |
I484F |
probably damaging |
Het |
| Pex16 |
A |
G |
2: 92,209,580 (GRCm39) |
R263G |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,356,869 (GRCm39) |
E765K |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,640,350 (GRCm39) |
V532A |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,885,609 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
T |
C |
4: 143,998,191 (GRCm39) |
T351A |
probably damaging |
Het |
| Prokr1 |
A |
T |
6: 87,565,593 (GRCm39) |
I84N |
probably damaging |
Het |
| Prss30 |
A |
T |
17: 24,192,695 (GRCm39) |
S162T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,287,806 (GRCm39) |
K25E |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,866,205 (GRCm39) |
T22A |
probably damaging |
Het |
| Rhoj |
G |
T |
12: 75,355,680 (GRCm39) |
G9V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,340,169 (GRCm39) |
R3467G |
probably benign |
Het |
| Rreb1 |
C |
A |
13: 38,113,622 (GRCm39) |
S327* |
probably null |
Het |
| Scn5a |
G |
A |
9: 119,315,290 (GRCm39) |
P1806L |
probably damaging |
Het |
| Stag3 |
G |
A |
5: 138,295,921 (GRCm39) |
E416K |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,256,856 (GRCm39) |
S216T |
possibly damaging |
Het |
| Tfeb |
C |
A |
17: 48,102,589 (GRCm39) |
N426K |
probably benign |
Het |
| Trp53bp1 |
G |
T |
2: 121,087,060 (GRCm39) |
Q199K |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,877 (GRCm39) |
D2234G |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,846,194 (GRCm39) |
Q866P |
probably benign |
Het |
| Vdr |
T |
A |
15: 97,782,735 (GRCm39) |
D29V |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,853,224 (GRCm39) |
V2439A |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,342,942 (GRCm39) |
S1728P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,441,436 (GRCm39) |
S409P |
probably damaging |
Het |
|
| Other mutations in Sema6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R8900:Sema6a
|
UTSW |
18 |
47,424,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation