Incidental Mutation 'IGL02676:Sema3d'
ID |
303130 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sema3d
|
Ensembl Gene |
ENSMUSG00000040254 |
Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D |
Synonyms |
4631426B19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
IGL02676
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
12433352-12638915 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12620945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 517
(Q517L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030868]
[ENSMUST00000197927]
|
AlphaFold |
Q8BH34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030868
AA Change: Q517L
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030868 Gene: ENSMUSG00000040254 AA Change: Q517L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
16 |
35 |
N/A |
INTRINSIC |
Sema
|
70 |
515 |
2.97e-207 |
SMART |
PSI
|
533 |
585 |
2.03e-13 |
SMART |
IG
|
598 |
682 |
1.39e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195923
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197927
AA Change: Q517L
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142453 Gene: ENSMUSG00000040254 AA Change: Q517L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
Sema
|
70 |
515 |
1e-209 |
SMART |
PSI
|
533 |
585 |
8.5e-16 |
SMART |
Blast:Sema
|
590 |
622 |
1e-9 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit pulmonary vein connection to the right atrium and atrial septal defect. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
G |
A |
18: 34,448,687 (GRCm39) |
S1827N |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,680,316 (GRCm39) |
C739S |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,737,977 (GRCm39) |
E2622G |
possibly damaging |
Het |
Chd5 |
C |
T |
4: 152,440,530 (GRCm39) |
|
probably benign |
Het |
Chst11 |
T |
A |
10: 83,027,563 (GRCm39) |
L330Q |
probably damaging |
Het |
Clcnka |
A |
T |
4: 141,120,094 (GRCm39) |
V275E |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,135,616 (GRCm39) |
S456N |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,229,361 (GRCm39) |
I1909N |
probably damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,553,626 (GRCm39) |
I176T |
probably damaging |
Het |
Dst |
A |
G |
1: 34,346,668 (GRCm39) |
R7717G |
probably damaging |
Het |
Eml2 |
C |
T |
7: 18,918,846 (GRCm39) |
R99* |
probably null |
Het |
Fibin |
T |
C |
2: 110,192,929 (GRCm39) |
Q71R |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,812,501 (GRCm39) |
I2940S |
possibly damaging |
Het |
Gabrb3 |
G |
T |
7: 57,241,112 (GRCm39) |
|
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Gm6483 |
C |
T |
8: 19,743,675 (GRCm39) |
|
noncoding transcript |
Het |
Hdgfl1 |
G |
A |
13: 26,953,348 (GRCm39) |
R242C |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,494,760 (GRCm39) |
T4110A |
probably benign |
Het |
Lama2 |
T |
G |
10: 26,994,489 (GRCm39) |
M1807L |
probably benign |
Het |
Larp4 |
T |
C |
15: 99,888,302 (GRCm39) |
V113A |
possibly damaging |
Het |
Mkx |
T |
C |
18: 7,000,640 (GRCm39) |
T101A |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,718,491 (GRCm39) |
F15L |
probably damaging |
Het |
Nherf2 |
A |
T |
17: 24,860,930 (GRCm39) |
V204E |
probably damaging |
Het |
Nif3l1 |
G |
A |
1: 58,494,895 (GRCm39) |
|
probably null |
Het |
Nop14 |
A |
G |
5: 34,796,565 (GRCm39) |
V764A |
probably damaging |
Het |
Nosip |
C |
A |
7: 44,726,752 (GRCm39) |
A259E |
probably damaging |
Het |
Ntn5 |
T |
C |
7: 45,341,300 (GRCm39) |
|
probably benign |
Het |
Or9g20 |
T |
C |
2: 85,629,934 (GRCm39) |
I227V |
possibly damaging |
Het |
Phospho1 |
G |
A |
11: 95,721,714 (GRCm39) |
G128D |
probably damaging |
Het |
Ppp4r3a |
G |
A |
12: 101,008,770 (GRCm39) |
T703M |
probably benign |
Het |
Pramel21 |
T |
C |
4: 143,342,667 (GRCm39) |
F258S |
possibly damaging |
Het |
Pramel58 |
A |
G |
5: 94,831,730 (GRCm39) |
T246A |
possibly damaging |
Het |
Prdm8 |
G |
A |
5: 98,334,418 (GRCm39) |
E662K |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,723,202 (GRCm39) |
S1775P |
probably damaging |
Het |
Rapgef6 |
T |
C |
11: 54,540,172 (GRCm39) |
|
probably benign |
Het |
Rasef |
T |
C |
4: 73,677,966 (GRCm39) |
T87A |
possibly damaging |
Het |
Scrn3 |
A |
G |
2: 73,160,215 (GRCm39) |
Q286R |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,752,413 (GRCm39) |
Y425C |
probably damaging |
Het |
Tbk1 |
T |
C |
10: 121,403,985 (GRCm39) |
N254S |
possibly damaging |
Het |
Tcf3 |
C |
T |
10: 80,256,925 (GRCm39) |
G64R |
probably damaging |
Het |
Tmco4 |
T |
C |
4: 138,750,380 (GRCm39) |
|
probably null |
Het |
Trappc11 |
A |
G |
8: 47,946,448 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
A |
T |
6: 57,382,025 (GRCm39) |
I193F |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,367,882 (GRCm39) |
T370I |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,589,381 (GRCm39) |
H845L |
possibly damaging |
Het |
Vmn2r98 |
A |
T |
17: 19,285,521 (GRCm39) |
T114S |
probably benign |
Het |
Zfp280d |
A |
T |
9: 72,242,356 (GRCm39) |
R661S |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,568,410 (GRCm39) |
I356T |
probably benign |
Het |
|
Other mutations in Sema3d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00559:Sema3d
|
APN |
5 |
12,613,189 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00582:Sema3d
|
APN |
5 |
12,635,162 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00661:Sema3d
|
APN |
5 |
12,555,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00780:Sema3d
|
APN |
5 |
12,574,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01531:Sema3d
|
APN |
5 |
12,591,047 (GRCm39) |
missense |
probably benign |
|
IGL01957:Sema3d
|
APN |
5 |
12,613,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Sema3d
|
APN |
5 |
12,634,958 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02749:Sema3d
|
APN |
5 |
12,613,112 (GRCm39) |
splice site |
probably benign |
|
IGL02827:Sema3d
|
APN |
5 |
12,635,085 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03325:Sema3d
|
APN |
5 |
12,513,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Sema3d
|
UTSW |
5 |
12,634,920 (GRCm39) |
missense |
probably benign |
0.00 |
R0085:Sema3d
|
UTSW |
5 |
12,620,953 (GRCm39) |
missense |
probably benign |
0.00 |
R0095:Sema3d
|
UTSW |
5 |
12,613,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R0157:Sema3d
|
UTSW |
5 |
12,558,104 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0328:Sema3d
|
UTSW |
5 |
12,498,042 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0924:Sema3d
|
UTSW |
5 |
12,513,183 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0930:Sema3d
|
UTSW |
5 |
12,513,183 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1609:Sema3d
|
UTSW |
5 |
12,591,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Sema3d
|
UTSW |
5 |
12,634,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1669:Sema3d
|
UTSW |
5 |
12,558,051 (GRCm39) |
splice site |
probably benign |
|
R1795:Sema3d
|
UTSW |
5 |
12,634,854 (GRCm39) |
missense |
probably benign |
0.02 |
R1861:Sema3d
|
UTSW |
5 |
12,547,570 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Sema3d
|
UTSW |
5 |
12,534,988 (GRCm39) |
splice site |
probably null |
|
R1895:Sema3d
|
UTSW |
5 |
12,623,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R1946:Sema3d
|
UTSW |
5 |
12,623,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R1975:Sema3d
|
UTSW |
5 |
12,634,965 (GRCm39) |
missense |
probably benign |
|
R1975:Sema3d
|
UTSW |
5 |
12,613,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Sema3d
|
UTSW |
5 |
12,613,240 (GRCm39) |
missense |
probably benign |
|
R2148:Sema3d
|
UTSW |
5 |
12,534,926 (GRCm39) |
missense |
probably damaging |
0.99 |
R2276:Sema3d
|
UTSW |
5 |
12,592,549 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3761:Sema3d
|
UTSW |
5 |
12,621,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R4063:Sema3d
|
UTSW |
5 |
12,635,091 (GRCm39) |
missense |
probably benign |
0.25 |
R4428:Sema3d
|
UTSW |
5 |
12,498,087 (GRCm39) |
missense |
probably benign |
0.32 |
R4903:Sema3d
|
UTSW |
5 |
12,613,125 (GRCm39) |
missense |
probably benign |
0.00 |
R4999:Sema3d
|
UTSW |
5 |
12,558,054 (GRCm39) |
splice site |
probably null |
|
R5000:Sema3d
|
UTSW |
5 |
12,498,005 (GRCm39) |
missense |
probably benign |
0.01 |
R5022:Sema3d
|
UTSW |
5 |
12,634,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Sema3d
|
UTSW |
5 |
12,634,875 (GRCm39) |
missense |
probably benign |
|
R5584:Sema3d
|
UTSW |
5 |
12,620,954 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5584:Sema3d
|
UTSW |
5 |
12,615,975 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6270:Sema3d
|
UTSW |
5 |
12,498,074 (GRCm39) |
missense |
probably benign |
|
R6368:Sema3d
|
UTSW |
5 |
12,620,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R6426:Sema3d
|
UTSW |
5 |
12,613,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Sema3d
|
UTSW |
5 |
12,635,067 (GRCm39) |
nonsense |
probably null |
|
R7403:Sema3d
|
UTSW |
5 |
12,547,551 (GRCm39) |
missense |
probably damaging |
0.97 |
R7450:Sema3d
|
UTSW |
5 |
12,634,901 (GRCm39) |
nonsense |
probably null |
|
R7470:Sema3d
|
UTSW |
5 |
12,558,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R7548:Sema3d
|
UTSW |
5 |
12,627,783 (GRCm39) |
missense |
unknown |
|
R7593:Sema3d
|
UTSW |
5 |
12,558,112 (GRCm39) |
missense |
probably benign |
0.02 |
R7683:Sema3d
|
UTSW |
5 |
12,623,823 (GRCm39) |
nonsense |
probably null |
|
R8155:Sema3d
|
UTSW |
5 |
12,498,148 (GRCm39) |
critical splice donor site |
probably null |
|
R8442:Sema3d
|
UTSW |
5 |
12,592,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R8725:Sema3d
|
UTSW |
5 |
12,555,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R8754:Sema3d
|
UTSW |
5 |
12,603,191 (GRCm39) |
critical splice donor site |
probably null |
|
R9293:Sema3d
|
UTSW |
5 |
12,603,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R9771:Sema3d
|
UTSW |
5 |
12,613,207 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Sema3d
|
UTSW |
5 |
12,635,026 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |