Incidental Mutation 'R7548:Sema3d'
| ID |
584297 |
| 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 |
045619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R7548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
12433352-12638915 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12627783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 658
(M658K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030868]
[ENSMUST00000197927]
|
| AlphaFold |
Q8BH34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030868
|
| SMART Domains |
Protein: ENSMUSP00000030868
Gene: ENSMUSG00000040254
| 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 |
unknown
Transcript: ENSMUST00000197927
AA Change: M658K
|
| SMART Domains |
Protein: ENSMUSP00000142453
Gene: ENSMUSG00000040254
AA Change: M658K
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
G |
A |
5: 115,016,059 (GRCm39) |
S146N |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,458,596 (GRCm39) |
S426P |
possibly damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,725,733 (GRCm39) |
I59N |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,629,379 (GRCm39) |
*81K |
probably null |
Het |
| Atp8a1 |
T |
A |
5: 67,973,071 (GRCm39) |
R26* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,231,262 (GRCm39) |
Q453L |
probably benign |
Het |
| B4galt4 |
A |
G |
16: 38,574,428 (GRCm39) |
E134G |
probably damaging |
Het |
| Bcl9 |
G |
A |
3: 97,113,209 (GRCm39) |
T1082I |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,251 (GRCm39) |
F617L |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,188,723 (GRCm39) |
N800S |
probably benign |
Het |
| Cd300ld |
T |
C |
11: 114,878,248 (GRCm39) |
D88G |
probably benign |
Het |
| Ceacam2 |
A |
T |
7: 25,229,958 (GRCm39) |
V216E |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,738,675 (GRCm39) |
M356K |
|
Het |
| Cenpm |
T |
C |
15: 82,128,880 (GRCm39) |
M1V |
probably null |
Het |
| Ces2e |
A |
G |
8: 105,658,538 (GRCm39) |
E401G |
probably benign |
Het |
| Cib3 |
C |
A |
8: 72,961,041 (GRCm39) |
L65F |
probably damaging |
Het |
| Clip4 |
C |
G |
17: 72,096,963 (GRCm39) |
T29R |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,953,874 (GRCm39) |
I131T |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,673,415 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
C |
3: 113,917,409 (GRCm39) |
H732P |
unknown |
Het |
| Coq4 |
A |
T |
2: 29,685,420 (GRCm39) |
T145S |
possibly damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,098,989 (GRCm39) |
D527G |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,735 (GRCm39) |
I303V |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,459,399 (GRCm39) |
T437I |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,809 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,004,423 (GRCm39) |
L3847F |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,877,838 (GRCm39) |
E411G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,944,517 (GRCm39) |
Y95H |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,408,590 (GRCm39) |
D310E |
possibly damaging |
Het |
| Eml4 |
C |
A |
17: 83,732,766 (GRCm39) |
Q140K |
probably benign |
Het |
| Epb41l3 |
T |
C |
17: 69,517,271 (GRCm39) |
S100P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,263 (GRCm39) |
T2972S |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 100,951,079 (GRCm39) |
E401G |
unknown |
Het |
| Fryl |
T |
A |
5: 73,349,105 (GRCm39) |
D19V |
unknown |
Het |
| Gck |
C |
T |
11: 5,852,040 (GRCm39) |
G16R |
|
Het |
| Gm3371 |
T |
C |
14: 44,648,145 (GRCm39) |
M1V |
probably null |
Het |
| Hlcs |
T |
A |
16: 93,933,876 (GRCm39) |
K661* |
probably null |
Het |
| Il17re |
C |
G |
6: 113,443,348 (GRCm39) |
P363A |
probably damaging |
Het |
| Kif24 |
C |
T |
4: 41,423,601 (GRCm39) |
E217K |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,272,907 (GRCm39) |
I605T |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,940,346 (GRCm39) |
T170A |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,287,669 (GRCm39) |
D126G |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,344 (GRCm39) |
F601Y |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,484,471 (GRCm39) |
I384T |
probably damaging |
Het |
| Mfap5 |
A |
T |
6: 122,502,993 (GRCm39) |
T102S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,702,446 (GRCm39) |
F600S |
possibly damaging |
Het |
| Nlrp4a |
G |
A |
7: 26,149,604 (GRCm39) |
E404K |
probably damaging |
Het |
| Nme3 |
T |
C |
17: 25,115,522 (GRCm39) |
L12P |
probably damaging |
Het |
| Nxpe5 |
A |
T |
5: 138,249,493 (GRCm39) |
T428S |
probably benign |
Het |
| Or1e26 |
G |
A |
11: 73,479,802 (GRCm39) |
T254I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,430 (GRCm39) |
T191A |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,641,259 (GRCm39) |
P175Q |
possibly damaging |
Het |
| Psmc6 |
T |
C |
14: 45,572,375 (GRCm39) |
Y110H |
probably benign |
Het |
| Pthlh |
T |
A |
6: 147,158,653 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ric8b |
G |
T |
10: 84,783,736 (GRCm39) |
S198I |
probably damaging |
Het |
| Rrp7a |
C |
A |
15: 83,001,871 (GRCm39) |
R212S |
possibly damaging |
Het |
| Rubcnl |
T |
C |
14: 75,279,792 (GRCm39) |
Y392H |
probably benign |
Het |
| Sag |
G |
A |
1: 87,772,638 (GRCm39) |
V369I |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,680,094 (GRCm39) |
E140G |
probably benign |
Het |
| Skor2 |
C |
T |
18: 76,948,600 (GRCm39) |
S774F |
possibly damaging |
Het |
| Slc1a6 |
G |
T |
10: 78,650,265 (GRCm39) |
R501L |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,468 (GRCm39) |
M539V |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,823,602 (GRCm39) |
L133P |
|
Het |
| Sptlc1 |
A |
T |
13: 53,521,968 (GRCm39) |
N96K |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,501,946 (GRCm39) |
S205T |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,917,693 (GRCm39) |
M509V |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Ttc34 |
T |
A |
4: 154,940,816 (GRCm39) |
L499Q |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,751,309 (GRCm39) |
C120R |
probably damaging |
Het |
| Usp39 |
C |
T |
6: 72,321,996 (GRCm39) |
S46N |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,724 (GRCm39) |
E220G |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,604,701 (GRCm39) |
C735* |
probably null |
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 |
|
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 |
|
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'- TAGGCATTAGTCATGAAACAGCTG -3'
(R):5'- AACTAGACAACTCAATGTTCGC -3'
Sequencing Primer
(F):5'- ACAGCTGATGAAAAGGTGATTTTTGG -3'
(R):5'- CTAGACAACTCAATGTTCGCTATAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation