Incidental Mutation 'IGL03114:Sema5a'
| ID |
419326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32673573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 804
(I804F)
|
| 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: I804F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: I804F
| 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: ENSMUST00000227976
|
| 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 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
T |
3: 59,651,144 (GRCm39) |
I89F |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,478,999 (GRCm39) |
H4282Q |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,222,310 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,723,579 (GRCm39) |
|
probably benign |
Het |
| Avpr1a |
A |
G |
10: 122,285,623 (GRCm39) |
Y305C |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,603 (GRCm39) |
N565K |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,307,115 (GRCm39) |
S1035R |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,532 (GRCm39) |
S1654T |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,753,170 (GRCm39) |
N187S |
possibly damaging |
Het |
| Cntn5 |
C |
T |
9: 9,748,457 (GRCm39) |
E680K |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,946,835 (GRCm39) |
Y1014* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,683,847 (GRCm39) |
S1662P |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,353,042 (GRCm39) |
F360L |
possibly damaging |
Het |
| Efnb3 |
A |
T |
11: 69,447,628 (GRCm39) |
|
probably benign |
Het |
| Egf |
A |
T |
3: 129,530,529 (GRCm39) |
L211Q |
probably damaging |
Het |
| Eno1 |
G |
A |
4: 150,325,583 (GRCm39) |
R56H |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Git2 |
G |
A |
5: 114,871,918 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,752 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
T |
6: 24,755,964 (GRCm39) |
I61L |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,217,885 (GRCm39) |
|
probably null |
Het |
| Kif13b |
T |
C |
14: 65,025,897 (GRCm39) |
V1418A |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,383,274 (GRCm39) |
K35E |
probably benign |
Het |
| Lyrm7 |
G |
T |
11: 54,741,198 (GRCm39) |
N45K |
possibly damaging |
Het |
| Mical2 |
G |
T |
7: 111,996,764 (GRCm39) |
G559V |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,712,441 (GRCm39) |
C648* |
probably null |
Het |
| Muc5b |
C |
A |
7: 141,412,556 (GRCm39) |
S1834* |
probably null |
Het |
| Mup16 |
G |
A |
4: 61,436,250 (GRCm39) |
T101M |
probably benign |
Het |
| Myof |
A |
T |
19: 37,892,309 (GRCm39) |
L1148Q |
probably damaging |
Het |
| Nags |
A |
T |
11: 102,039,814 (GRCm39) |
I501F |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,317,886 (GRCm39) |
Y672F |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,415,993 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,891,365 (GRCm39) |
S7056P |
unknown |
Het |
| Or52s1 |
T |
C |
7: 102,861,928 (GRCm39) |
I287T |
probably damaging |
Het |
| Pde2a |
C |
A |
7: 101,157,890 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,163,343 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,268,395 (GRCm39) |
D3328Y |
probably damaging |
Het |
| Plxdc2 |
T |
C |
2: 16,654,935 (GRCm39) |
V178A |
probably damaging |
Het |
| Prdx3 |
T |
C |
19: 60,861,556 (GRCm39) |
|
probably benign |
Het |
| Prkce |
T |
A |
17: 86,961,983 (GRCm39) |
D694E |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,012 (GRCm39) |
C205S |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,142,058 (GRCm39) |
Y405* |
probably null |
Het |
| Rad54l |
A |
T |
4: 115,955,729 (GRCm39) |
W608R |
probably damaging |
Het |
| Rassf6 |
G |
T |
5: 90,756,649 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,572,267 (GRCm39) |
I668N |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 130,116,288 (GRCm39) |
E1347G |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,348,205 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,996 (GRCm39) |
M31214V |
probably null |
Het |
| Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
| Ugt2b5 |
T |
C |
5: 87,276,209 (GRCm39) |
Y355C |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,383,436 (GRCm39) |
T1031K |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vmn1r202 |
T |
A |
13: 22,685,500 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,771 (GRCm39) |
I645T |
probably damaging |
Het |
| Vps18 |
T |
C |
2: 119,124,132 (GRCm39) |
V353A |
possibly damaging |
Het |
| Vwf |
C |
T |
6: 125,576,326 (GRCm39) |
Q469* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation