Incidental Mutation 'R0689:Sema6a'
ID |
61304 |
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 |
038874-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0689 (G1)
|
Quality Score |
133 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
47378321-47504267 bp(-) (GRCm39) |
Type of Mutation |
splice site (1849 bp from exon) |
DNA Base Change (assembly) |
G to A
at 47423112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118655
(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: A298V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000019791 Gene: ENSMUSG00000019647 AA Change: A298V
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: A298V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075420 Gene: ENSMUSG00000019647 AA Change: A298V
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: A298V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111109 Gene: ENSMUSG00000019647 AA Change: A298V
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 null
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: A298V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120011 Gene: ENSMUSG00000019647 AA Change: A298V
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 damaging
Transcript: ENSMUST00000156422
AA Change: A298V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121442 Gene: ENSMUSG00000019647 AA Change: A298V
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 |
|
Meta Mutation Damage Score |
0.7184 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.1%
|
Validation Efficiency |
99% (80/81) |
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 |
Actn4 |
C |
A |
7: 28,596,474 (GRCm39) |
G674W |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,130,668 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
C |
T |
13: 81,623,224 (GRCm39) |
V3800I |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,587,277 (GRCm39) |
Y93H |
probably damaging |
Het |
Aldh1a3 |
T |
A |
7: 66,051,753 (GRCm39) |
D400V |
probably benign |
Het |
Bpifc |
A |
G |
10: 85,796,411 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
G |
T |
4: 100,832,073 (GRCm39) |
R745L |
probably damaging |
Het |
Cadm3 |
T |
A |
1: 173,172,019 (GRCm39) |
T185S |
possibly damaging |
Het |
Cep85l |
G |
T |
10: 53,224,943 (GRCm39) |
D215E |
probably damaging |
Het |
Ces1g |
A |
G |
8: 94,055,035 (GRCm39) |
S221P |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,722,668 (GRCm39) |
V138M |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,619,421 (GRCm39) |
F1714I |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 72,749,812 (GRCm39) |
L279P |
probably benign |
Het |
Dnah7a |
G |
A |
1: 53,659,840 (GRCm39) |
Q723* |
probably null |
Het |
Dnaja2 |
A |
G |
8: 86,273,347 (GRCm39) |
|
probably benign |
Het |
Dnajc6 |
T |
C |
4: 101,468,450 (GRCm39) |
V162A |
possibly damaging |
Het |
Dok4 |
T |
C |
8: 95,597,547 (GRCm39) |
T3A |
probably benign |
Het |
Efcab7 |
T |
C |
4: 99,761,981 (GRCm39) |
W424R |
probably damaging |
Het |
Fah |
A |
T |
7: 84,242,392 (GRCm39) |
|
probably null |
Het |
Fam120a |
T |
C |
13: 49,121,114 (GRCm39) |
D64G |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gas8 |
T |
G |
8: 124,250,845 (GRCm39) |
L106R |
probably damaging |
Het |
Gykl1 |
T |
G |
18: 52,827,123 (GRCm39) |
N110K |
possibly damaging |
Het |
Hsd3b3 |
G |
T |
3: 98,649,295 (GRCm39) |
L343I |
possibly damaging |
Het |
Itch |
T |
A |
2: 155,024,098 (GRCm39) |
S234T |
possibly damaging |
Het |
Itgbl1 |
A |
T |
14: 124,065,259 (GRCm39) |
I61F |
possibly damaging |
Het |
Klf6 |
T |
A |
13: 5,915,115 (GRCm39) |
S185T |
probably damaging |
Het |
Klk1b1 |
A |
C |
7: 43,620,143 (GRCm39) |
K202T |
probably benign |
Het |
Liph |
T |
C |
16: 21,786,818 (GRCm39) |
Y268C |
probably damaging |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,783,400 (GRCm39) |
D574N |
probably damaging |
Het |
Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
Nipbl |
A |
G |
15: 8,322,562 (GRCm39) |
|
probably null |
Het |
Olfm3 |
T |
A |
3: 114,916,194 (GRCm39) |
N355K |
probably benign |
Het |
Or4k15c |
A |
T |
14: 50,321,689 (GRCm39) |
F150I |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,648,370 (GRCm39) |
T500A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,764,033 (GRCm39) |
I4169V |
unknown |
Het |
Pde4d |
T |
C |
13: 109,877,078 (GRCm39) |
S144P |
possibly damaging |
Het |
Pgghg |
T |
C |
7: 140,523,191 (GRCm39) |
Y157H |
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pla2g12a |
T |
C |
3: 129,674,947 (GRCm39) |
|
probably null |
Het |
Ppp1r14d |
T |
C |
2: 119,060,093 (GRCm39) |
D63G |
probably damaging |
Het |
Sgip1 |
A |
T |
4: 102,823,449 (GRCm39) |
D690V |
probably damaging |
Het |
Skp1 |
T |
C |
11: 52,134,592 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
T |
C |
2: 71,141,837 (GRCm39) |
Y272C |
possibly damaging |
Het |
Slc37a2 |
A |
G |
9: 37,146,846 (GRCm39) |
|
probably benign |
Het |
Snx6 |
A |
T |
12: 54,810,441 (GRCm39) |
S112T |
probably benign |
Het |
Sox6 |
A |
G |
7: 115,085,786 (GRCm39) |
V685A |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,926,461 (GRCm39) |
V163E |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,711,253 (GRCm39) |
|
probably benign |
Het |
Tmem30c |
A |
G |
16: 57,090,536 (GRCm39) |
Y224H |
probably damaging |
Het |
Tmem45b |
T |
C |
9: 31,339,879 (GRCm39) |
N173D |
probably benign |
Het |
Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
Trerf1 |
C |
T |
17: 47,630,300 (GRCm39) |
|
noncoding transcript |
Het |
Triobp |
A |
T |
15: 78,844,188 (GRCm39) |
K135* |
probably null |
Het |
Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
Vmn1r63 |
T |
C |
7: 5,806,609 (GRCm39) |
I8V |
probably benign |
Het |
Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,300,782 (GRCm39) |
S595P |
possibly damaging |
Het |
Zcchc2 |
C |
T |
1: 105,958,234 (GRCm39) |
Q504* |
probably null |
Het |
Zfp2 |
T |
C |
11: 50,791,734 (GRCm39) |
D103G |
probably benign |
Het |
Zfp59 |
A |
G |
7: 27,553,142 (GRCm39) |
K198R |
probably benign |
Het |
Zfp64 |
C |
A |
2: 168,777,121 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGACTACCTGGTCCAGGCAAAG -3'
(R):5'- GATTGCGTCATTAAGCAGAGGCAAC -3'
Sequencing Primer
(F):5'- GTCCAGGCAAAGGAATGTTTTAATC -3'
(R):5'- CAGAGGCAACTTCTTCTAAGGTC -3'
|
Posted On |
2013-07-30 |