Incidental Mutation 'R1657:Sema3d'
ID |
186453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sema3d
|
Ensembl Gene |
ENSMUSG00000040254 |
Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D |
Synonyms |
4631426B19Rik |
MMRRC Submission |
039693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R1657 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
12433352-12638915 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 12634941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 669
(E669G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030868]
|
AlphaFold |
Q8BH34 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030868
AA Change: E669G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030868 Gene: ENSMUSG00000040254 AA Change: E669G
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
G |
11: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
Armh4 |
G |
C |
14: 50,011,017 (GRCm39) |
T230S |
probably damaging |
Het |
Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,319,034 (GRCm39) |
M166T |
possibly damaging |
Het |
Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
Mtif2 |
G |
A |
11: 29,490,721 (GRCm39) |
R475Q |
probably benign |
Het |
Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,125,336 (GRCm39) |
I417L |
probably benign |
Het |
Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
Snx9 |
A |
C |
17: 5,968,711 (GRCm39) |
T336P |
possibly damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
Zfp184 |
C |
T |
13: 22,143,443 (GRCm39) |
T383M |
probably damaging |
Het |
Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
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 |
IGL02676:Sema3d
|
APN |
5 |
12,620,945 (GRCm39) |
missense |
probably benign |
0.38 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGTTATATCTTGGGGACTACTACC -3'
(R):5'- GTACTGGTCCAGGCTGAAGTTCG -3'
Sequencing Primer
(F):5'- tctttctttcttcctttcttccttc -3'
(R):5'- TCGGGCTGCTAAGGATTTG -3'
|
Posted On |
2014-05-09 |