Incidental Mutation 'R8728:Sema5a'
| ID |
662600 |
| 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 |
068576-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32562703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 238
(V238A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067458
AA Change: V238A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: V238A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
G |
14: 66,295,086 (GRCm39) |
L253P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,229,281 (GRCm39) |
G946D |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,119,207 (GRCm39) |
R1648G |
probably damaging |
Het |
| Ak9 |
G |
A |
10: 41,282,959 (GRCm39) |
A1242T |
|
Het |
| Anxa9 |
T |
C |
3: 95,209,979 (GRCm39) |
K127E |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,152 (GRCm39) |
S739P |
probably benign |
Het |
| Bloc1s6 |
A |
T |
2: 122,588,026 (GRCm39) |
M122L |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,618,582 (GRCm39) |
M274L |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,369,331 (GRCm39) |
I990T |
possibly damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,793 (GRCm39) |
T514A |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,470,117 (GRCm39) |
|
silent |
Het |
| Celsr3 |
T |
C |
9: 108,723,940 (GRCm39) |
L2899S |
probably benign |
Het |
| Ces1b |
A |
T |
8: 93,798,576 (GRCm39) |
D203E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,473,365 (GRCm39) |
N753S |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,365,113 (GRCm39) |
G501R |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,125,991 (GRCm39) |
F91L |
possibly damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,614,605 (GRCm39) |
R307S |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,122 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,225,771 (GRCm39) |
R798C |
probably damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,724,005 (GRCm39) |
R478C |
possibly damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,109,929 (GRCm39) |
L28P |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,829,552 (GRCm39) |
D234G |
possibly damaging |
Het |
| Fam83a |
T |
A |
15: 57,873,062 (GRCm39) |
M297K |
possibly damaging |
Het |
| Galnt18 |
T |
A |
7: 111,119,243 (GRCm39) |
D426V |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,438,793 (GRCm39) |
I32V |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,601 (GRCm39) |
Y96C |
unknown |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,332 (GRCm39) |
K441R |
probably benign |
Het |
| Impdh2 |
C |
T |
9: 108,437,562 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,216,334 (GRCm39) |
R358Q |
probably damaging |
Het |
| Kctd18 |
G |
T |
1: 58,002,289 (GRCm39) |
D179E |
probably damaging |
Het |
| Krt13 |
T |
G |
11: 100,012,318 (GRCm39) |
S2R |
probably null |
Het |
| Krt78 |
A |
T |
15: 101,856,225 (GRCm39) |
S529T |
probably benign |
Het |
| Krtap4-7 |
C |
G |
11: 99,534,788 (GRCm39) |
C25S |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,125,663 (GRCm39) |
I2940T |
|
Het |
| Lmnb2 |
A |
G |
10: 80,740,913 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
A |
T |
7: 138,822,555 (GRCm39) |
E482V |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,656 (GRCm39) |
T67M |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,701,753 (GRCm39) |
C789* |
probably null |
Het |
| Mei1 |
T |
G |
15: 81,966,182 (GRCm39) |
V268G |
|
Het |
| Mical3 |
C |
A |
6: 120,950,514 (GRCm39) |
A966S |
probably damaging |
Het |
| Mmp10 |
C |
T |
9: 7,502,480 (GRCm39) |
P29L |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,935,122 (GRCm39) |
F186L |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,754,952 (GRCm38) |
T1609S |
unknown |
Het |
| Myrfl |
A |
T |
10: 116,634,545 (GRCm39) |
C616* |
probably null |
Het |
| Ncor1 |
C |
T |
11: 62,221,685 (GRCm39) |
A946T |
probably benign |
Het |
| Or10al6 |
C |
A |
17: 38,082,642 (GRCm39) |
L33M |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,027 (GRCm39) |
T262A |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,104 (GRCm39) |
Y81C |
probably benign |
Het |
| Plekhh1 |
C |
A |
12: 79,115,862 (GRCm39) |
Q802K |
possibly damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,116,165 (GRCm39) |
F279Y |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,855,261 (GRCm39) |
L63Q |
probably damaging |
Het |
| Rasa3 |
C |
T |
8: 13,636,873 (GRCm39) |
|
probably null |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,131,615 (GRCm39) |
S421P |
probably benign |
Het |
| Sesn1 |
G |
T |
10: 41,779,771 (GRCm39) |
G402W |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,159,180 (GRCm39) |
V260A |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,831 (GRCm39) |
R1825Q |
unknown |
Het |
| Stat1 |
G |
A |
1: 52,178,353 (GRCm39) |
W262* |
probably null |
Het |
| Tcf20 |
A |
T |
15: 82,739,158 (GRCm39) |
D764E |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,962,065 (GRCm39) |
N585D |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,133,821 (GRCm39) |
L1039H |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,974,934 (GRCm39) |
V86A |
probably benign |
Het |
| Ttc39b |
A |
G |
4: 83,171,247 (GRCm39) |
I202T |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,460 (GRCm39) |
F124S |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,133 (GRCm39) |
F29Y |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,559,079 (GRCm39) |
M281L |
probably benign |
Het |
| Zfand2a |
C |
T |
5: 139,467,753 (GRCm39) |
V40M |
possibly damaging |
Het |
| Zfp865 |
G |
C |
7: 5,034,819 (GRCm39) |
A935P |
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 |
|
R2062:Sema5a
|
UTSW |
15 |
32,609,363 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- GCCTTGTGAACTTGAGTGCAG -3'
(R):5'- GGAAGAAAGTACCCTGCAGC -3'
Sequencing Primer
(F):5'- GTGAACTTGAGTGCAGACTTAACTC -3'
(R):5'- CCCTGCAGCTCATTGTAGTAGAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation