Incidental Mutation 'R2062:Sema5a'
| ID |
228799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema5a
|
| Ensembl Gene |
ENSMUSG00000022231 |
| Gene Name |
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A |
| Synonyms |
M-Sema D, semF, Semaf, 9130201M22Rik |
| MMRRC Submission |
040067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2062 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 32609363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067458
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Sema
|
58 |
468 |
2.18e-173 |
SMART |
|
PSI
|
486 |
533 |
1.78e-9 |
SMART |
|
TSP1
|
543 |
597 |
2.23e-1 |
SMART |
|
TSP1
|
598 |
651 |
2.05e-15 |
SMART |
|
TSP1
|
656 |
702 |
6.94e-13 |
SMART |
|
low complexity region
|
707 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
771 |
N/A |
INTRINSIC |
|
TSP1
|
787 |
839 |
4.17e-16 |
SMART |
|
TSP1
|
844 |
896 |
9.08e-17 |
SMART |
|
TSP1
|
899 |
946 |
3.19e-3 |
SMART |
|
low complexity region
|
949 |
960 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228442
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
99% (84/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for one null mutation die during organogenesis and display defects in branching of cranial vessels. Mice homozygous for another null mutation appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,529,271 (GRCm39) |
M957K |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,742,610 (GRCm39) |
V668F |
probably benign |
Het |
| Adcy7 |
T |
G |
8: 89,038,902 (GRCm39) |
L306R |
probably damaging |
Het |
| Akt3 |
A |
G |
1: 176,930,551 (GRCm39) |
S136P |
possibly damaging |
Het |
| Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
| Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,318,035 (GRCm39) |
V249A |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,098,351 (GRCm39) |
|
probably null |
Het |
| Asah2 |
A |
T |
19: 32,002,274 (GRCm39) |
V290E |
probably damaging |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,095,038 (GRCm39) |
K421N |
probably damaging |
Het |
| Cars2 |
T |
C |
8: 11,597,747 (GRCm39) |
I110V |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,467,890 (GRCm39) |
N249S |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,928,082 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Cnep1r1 |
G |
T |
8: 88,845,445 (GRCm39) |
|
probably benign |
Het |
| Cyp2d37-ps |
C |
T |
15: 82,574,289 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp3a25 |
A |
G |
5: 145,923,779 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
G |
T |
9: 64,246,855 (GRCm39) |
Q67K |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,993,086 (GRCm39) |
V2936A |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,366,416 (GRCm39) |
R2710C |
probably damaging |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Dvl3 |
G |
A |
16: 20,345,101 (GRCm39) |
S361N |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,881,181 (GRCm39) |
V1085A |
probably benign |
Het |
| Eif3b |
T |
C |
5: 140,412,208 (GRCm39) |
Y226H |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,390,408 (GRCm39) |
F12S |
probably damaging |
Het |
| Ercc1 |
A |
G |
7: 19,088,295 (GRCm39) |
*37W |
probably null |
Het |
| Evi2a |
G |
A |
11: 79,418,593 (GRCm39) |
Q6* |
probably null |
Het |
| Faah |
C |
T |
4: 115,855,770 (GRCm39) |
V552M |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,369 (GRCm39) |
N2138K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,479,741 (GRCm39) |
V2929E |
probably damaging |
Het |
| Gm2959 |
A |
G |
14: 42,235,658 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
A |
T |
16: 12,578,979 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
| Gtf2f2 |
A |
G |
14: 76,155,136 (GRCm39) |
S142P |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,286,678 (GRCm39) |
T3666S |
possibly damaging |
Het |
| Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
| Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,373,727 (GRCm39) |
Q1421* |
probably null |
Het |
| Itga3 |
T |
A |
11: 94,944,902 (GRCm39) |
Q802L |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,392,403 (GRCm39) |
T490A |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,327,534 (GRCm39) |
V79A |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,895,601 (GRCm39) |
E736K |
probably benign |
Het |
| Mpp4 |
G |
A |
1: 59,182,941 (GRCm39) |
P322L |
possibly damaging |
Het |
| Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
| Myof |
A |
G |
19: 37,904,194 (GRCm39) |
V2A |
possibly damaging |
Het |
| Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,555,882 (GRCm39) |
T1683M |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,993,578 (GRCm39) |
|
probably benign |
Het |
| Nebl |
A |
T |
2: 17,401,932 (GRCm39) |
M427K |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,259,564 (GRCm39) |
V205A |
possibly damaging |
Het |
| Nup133 |
C |
A |
8: 124,641,314 (GRCm39) |
D869Y |
probably damaging |
Het |
| Oas1g |
T |
C |
5: 121,023,946 (GRCm39) |
E121G |
probably damaging |
Het |
| Or10j3b |
T |
C |
1: 173,043,277 (GRCm39) |
F20L |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or2w3 |
G |
T |
11: 58,556,808 (GRCm39) |
C141F |
probably damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,299 (GRCm39) |
T158A |
probably damaging |
Het |
| Or6c205 |
T |
A |
10: 129,087,001 (GRCm39) |
Y199* |
probably null |
Het |
| Park7 |
T |
C |
4: 150,989,732 (GRCm39) |
N76S |
probably benign |
Het |
| Pcdh8 |
A |
T |
14: 80,005,651 (GRCm39) |
S912R |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,271,559 (GRCm39) |
I2998T |
probably damaging |
Het |
| Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
| Ppard |
A |
G |
17: 28,518,663 (GRCm39) |
H388R |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,869,001 (GRCm39) |
S142P |
possibly damaging |
Het |
| Pth2r |
T |
C |
1: 65,382,721 (GRCm39) |
I158T |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,833,367 (GRCm39) |
P714Q |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,385,813 (GRCm39) |
S104T |
possibly damaging |
Het |
| Spmip10 |
C |
T |
18: 56,721,535 (GRCm39) |
Q25* |
probably null |
Het |
| Sun2 |
A |
G |
15: 79,622,852 (GRCm39) |
L109P |
probably damaging |
Het |
| Tdg |
A |
G |
10: 82,477,368 (GRCm39) |
T116A |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,020,019 (GRCm39) |
V118M |
probably benign |
Het |
| Tnfsf11 |
T |
A |
14: 78,516,362 (GRCm39) |
N202I |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 72,023,360 (GRCm39) |
S759P |
probably benign |
Het |
| Ttc7b |
G |
A |
12: 100,291,948 (GRCm39) |
A208V |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,338 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,905,118 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,330,806 (GRCm39) |
|
probably null |
Het |
| Zfyve28 |
T |
C |
5: 34,391,681 (GRCm39) |
M157V |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
probably damaging |
Het |
|
| Other mutations in Sema5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Sema5a
|
APN |
15 |
32,619,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01148:Sema5a
|
APN |
15 |
32,681,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01285:Sema5a
|
APN |
15 |
32,575,143 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01647:Sema5a
|
APN |
15 |
32,417,587 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01845:Sema5a
|
APN |
15 |
32,474,514 (GRCm39) |
splice site |
probably benign |
|
|
IGL01970:Sema5a
|
APN |
15 |
32,686,792 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01986:Sema5a
|
APN |
15 |
32,682,506 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:Sema5a
|
APN |
15 |
32,550,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02234:Sema5a
|
APN |
15 |
32,679,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02325:Sema5a
|
APN |
15 |
32,686,977 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02370:Sema5a
|
APN |
15 |
32,682,445 (GRCm39) |
splice site |
probably benign |
|
|
IGL02427:Sema5a
|
APN |
15 |
32,673,690 (GRCm39) |
splice site |
probably benign |
|
|
IGL02621:Sema5a
|
APN |
15 |
32,538,802 (GRCm39) |
splice site |
probably benign |
|
|
IGL02656:Sema5a
|
APN |
15 |
32,631,431 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03091:Sema5a
|
APN |
15 |
32,538,880 (GRCm39) |
splice site |
probably benign |
|
|
IGL03107:Sema5a
|
APN |
15 |
32,669,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03114:Sema5a
|
APN |
15 |
32,673,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03222:Sema5a
|
APN |
15 |
32,628,304 (GRCm39) |
missense |
probably benign |
0.32 |
|
PIT4305001:Sema5a
|
UTSW |
15 |
32,628,345 (GRCm39) |
missense |
probably benign |
|
|
R0190:Sema5a
|
UTSW |
15 |
32,562,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0409:Sema5a
|
UTSW |
15 |
32,681,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Sema5a
|
UTSW |
15 |
32,669,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Sema5a
|
UTSW |
15 |
32,574,949 (GRCm39) |
splice site |
probably benign |
|
|
R1235:Sema5a
|
UTSW |
15 |
32,609,372 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1484:Sema5a
|
UTSW |
15 |
32,460,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Sema5a
|
UTSW |
15 |
32,618,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1557:Sema5a
|
UTSW |
15 |
32,460,418 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1670:Sema5a
|
UTSW |
15 |
32,548,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Sema5a
|
UTSW |
15 |
32,669,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1760:Sema5a
|
UTSW |
15 |
32,641,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1960:Sema5a
|
UTSW |
15 |
32,562,877 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1967:Sema5a
|
UTSW |
15 |
32,681,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2082:Sema5a
|
UTSW |
15 |
32,619,002 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2218:Sema5a
|
UTSW |
15 |
32,631,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2267:Sema5a
|
UTSW |
15 |
32,575,065 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2299:Sema5a
|
UTSW |
15 |
32,562,922 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2438:Sema5a
|
UTSW |
15 |
32,550,399 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2698:Sema5a
|
UTSW |
15 |
32,673,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Sema5a
|
UTSW |
15 |
32,689,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4197:Sema5a
|
UTSW |
15 |
32,619,064 (GRCm39) |
missense |
probably benign |
|
|
R4496:Sema5a
|
UTSW |
15 |
32,641,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Sema5a
|
UTSW |
15 |
32,550,400 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4842:Sema5a
|
UTSW |
15 |
32,609,563 (GRCm39) |
missense |
probably benign |
|
|
R4867:Sema5a
|
UTSW |
15 |
32,550,436 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4934:Sema5a
|
UTSW |
15 |
32,679,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Sema5a
|
UTSW |
15 |
32,679,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5204:Sema5a
|
UTSW |
15 |
32,686,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5580:Sema5a
|
UTSW |
15 |
32,575,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5937:Sema5a
|
UTSW |
15 |
32,574,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Sema5a
|
UTSW |
15 |
32,686,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6897:Sema5a
|
UTSW |
15 |
32,550,421 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7037:Sema5a
|
UTSW |
15 |
32,686,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Sema5a
|
UTSW |
15 |
32,575,105 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7273:Sema5a
|
UTSW |
15 |
32,417,608 (GRCm39) |
missense |
probably benign |
|
|
R7572:Sema5a
|
UTSW |
15 |
32,673,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Sema5a
|
UTSW |
15 |
32,609,378 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7642:Sema5a
|
UTSW |
15 |
32,682,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7870:Sema5a
|
UTSW |
15 |
32,609,485 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7880:Sema5a
|
UTSW |
15 |
32,686,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Sema5a
|
UTSW |
15 |
32,548,928 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8034:Sema5a
|
UTSW |
15 |
32,574,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Sema5a
|
UTSW |
15 |
32,575,064 (GRCm39) |
missense |
probably benign |
|
|
R8539:Sema5a
|
UTSW |
15 |
32,618,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8728:Sema5a
|
UTSW |
15 |
32,562,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8807:Sema5a
|
UTSW |
15 |
32,562,868 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8825:Sema5a
|
UTSW |
15 |
32,689,498 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9109:Sema5a
|
UTSW |
15 |
32,619,040 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9235:Sema5a
|
UTSW |
15 |
32,619,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9298:Sema5a
|
UTSW |
15 |
32,619,040 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9354:Sema5a
|
UTSW |
15 |
32,562,902 (GRCm39) |
nonsense |
probably null |
|
|
R9515:Sema5a
|
UTSW |
15 |
32,679,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Sema5a
|
UTSW |
15 |
32,673,546 (GRCm39) |
nonsense |
probably null |
|
|
X0020:Sema5a
|
UTSW |
15 |
32,417,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCTCAGGCTTGCAACTGC -3'
(R):5'- ACATGCTCCTGTAGTCCCAC -3'
Sequencing Primer
(F):5'- AGATCAGGAGTTCTCACCACTGG -3'
(R):5'- CACAAATAGGACACTCTGGCTGTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation