Incidental Mutation 'R4867:Sema5a'
| ID |
376269 |
| 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 |
042477-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4867 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32550436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 158
(M158I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067458
AA Change: M158I
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: M158I
| 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: ENSMUST00000226876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228555
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,366,099 (GRCm39) |
I215V |
probably damaging |
Het |
| 4921509C19Rik |
A |
T |
2: 151,314,742 (GRCm39) |
L312* |
probably null |
Het |
| 9930111J21Rik1 |
T |
A |
11: 48,839,375 (GRCm39) |
|
probably null |
Het |
| Abca6 |
C |
A |
11: 110,093,205 (GRCm39) |
V1023F |
probably benign |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,169,914 (GRCm39) |
I151T |
possibly damaging |
Het |
| Arid1a |
G |
A |
4: 133,448,168 (GRCm39) |
S115L |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,759,252 (GRCm39) |
D344G |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,614 (GRCm39) |
S139P |
probably benign |
Het |
| Ccnjl |
T |
C |
11: 43,474,055 (GRCm39) |
V210A |
possibly damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
A |
T |
1: 139,702,213 (GRCm39) |
|
probably null |
Het |
| Cog4 |
T |
C |
8: 111,593,242 (GRCm39) |
V451A |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,170,752 (GRCm39) |
N818K |
probably damaging |
Het |
| Crtc1 |
T |
C |
8: 70,855,164 (GRCm39) |
D152G |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,768,323 (GRCm39) |
I207N |
possibly damaging |
Het |
| Cux1 |
TGGCAGGCGCG |
TG |
5: 136,303,815 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,235 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,769,724 (GRCm39) |
F445L |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,799 (GRCm39) |
H644R |
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,684,821 (GRCm39) |
I643F |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,097,108 (GRCm39) |
|
probably benign |
Het |
| Fbxo41 |
A |
C |
6: 85,452,176 (GRCm39) |
S777A |
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,271,250 (GRCm39) |
V897D |
probably damaging |
Het |
| Fmn1 |
G |
T |
2: 113,414,465 (GRCm39) |
|
probably null |
Het |
| Frem3 |
T |
C |
8: 81,339,912 (GRCm39) |
L735P |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,654,356 (GRCm39) |
D344E |
probably benign |
Het |
| Gtf3a |
C |
T |
5: 146,888,723 (GRCm39) |
Q145* |
probably null |
Het |
| Il36rn |
A |
T |
2: 24,170,847 (GRCm39) |
N48I |
probably damaging |
Het |
| Iqca1 |
A |
G |
1: 90,017,226 (GRCm39) |
L403S |
probably benign |
Het |
| Jrk |
C |
T |
15: 74,579,069 (GRCm39) |
R72Q |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Krt12 |
T |
C |
11: 99,307,789 (GRCm39) |
D433G |
possibly damaging |
Het |
| Lce1h |
A |
T |
3: 92,670,770 (GRCm39) |
S127R |
unknown |
Het |
| Lrrc7 |
T |
G |
3: 157,866,642 (GRCm39) |
Y1033S |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,993 (GRCm39) |
S1358P |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,495,320 (GRCm39) |
|
probably null |
Het |
| Mki67 |
T |
C |
7: 135,301,585 (GRCm39) |
T1150A |
probably damaging |
Het |
| Nadk2 |
A |
G |
15: 9,098,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,491 (GRCm39) |
T277A |
probably benign |
Het |
| Or1j12 |
A |
C |
2: 36,343,211 (GRCm39) |
M205L |
probably benign |
Het |
| Or2r2 |
A |
G |
6: 42,464,031 (GRCm39) |
V32A |
probably benign |
Het |
| Or6e1 |
T |
A |
14: 54,520,086 (GRCm39) |
T89S |
probably benign |
Het |
| Or7g17 |
A |
T |
9: 18,768,862 (GRCm39) |
I305F |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,677,697 (GRCm39) |
Y757F |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,113 (GRCm39) |
Y734C |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,726 (GRCm39) |
S849P |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,801,463 (GRCm39) |
K595E |
probably damaging |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Prr5 |
G |
T |
15: 84,624,967 (GRCm39) |
L46F |
probably benign |
Het |
| Ptgdr |
G |
T |
14: 45,096,253 (GRCm39) |
P153Q |
probably damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,094,805 (GRCm39) |
S555P |
probably damaging |
Het |
| Rhog |
T |
G |
7: 101,889,357 (GRCm39) |
Y32S |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,415,975 (GRCm39) |
T209A |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,837,757 (GRCm39) |
I103T |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,379,737 (GRCm39) |
C182* |
probably null |
Het |
| Sema3a |
A |
G |
5: 13,501,208 (GRCm39) |
N84D |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,040,301 (GRCm39) |
D71E |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,882,608 (GRCm39) |
I239T |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Ston1 |
C |
T |
17: 88,943,122 (GRCm39) |
A176V |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,357,976 (GRCm39) |
S3P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,545,158 (GRCm39) |
V1007E |
probably damaging |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,732,156 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tenm3 |
G |
A |
8: 48,688,856 (GRCm39) |
R2244W |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,868 (GRCm39) |
I1130T |
possibly damaging |
Het |
| Tlk1 |
A |
T |
2: 70,551,915 (GRCm39) |
Y585* |
probably null |
Het |
| Tmem221 |
C |
T |
8: 72,007,784 (GRCm39) |
E214K |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,335,077 (GRCm39) |
V172A |
possibly damaging |
Het |
| Tspo2 |
C |
T |
17: 48,755,705 (GRCm39) |
A146T |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,255,374 (GRCm39) |
A1268T |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,847,355 (GRCm39) |
D154E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,401,999 (GRCm39) |
F2410L |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,083,939 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Vmn1r24 |
A |
C |
6: 57,933,421 (GRCm39) |
C32W |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,855 (GRCm39) |
H177L |
probably damaging |
Het |
| Znrf1 |
T |
C |
8: 112,264,198 (GRCm39) |
|
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 |
|
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 |
|
|
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'- CAGGAAGGATTCTCTGGCCAAG -3'
(R):5'- CCATTGAGCCATTTGGAGTTG -3'
Sequencing Primer
(F):5'- CTCTGGCCAAGATTATAGAGAACTG -3'
(R):5'- CCATTGAGCCATTTGGAGTTGTACTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation