Incidental Mutation 'R7072:Sema5a'
ID |
548988 |
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 |
045168-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7072 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 32575105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 404
(H404Q)
|
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: H404Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000069024 Gene: ENSMUSG00000022231 AA Change: H404Q
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% (73/73) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,967,592 (GRCm39) |
L2214Q |
probably damaging |
Het |
Acbd3 |
T |
C |
1: 180,553,934 (GRCm39) |
F90L |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,751,786 (GRCm39) |
Q23L |
|
Het |
Anpep |
A |
T |
7: 79,485,127 (GRCm39) |
L620I |
possibly damaging |
Het |
Bpi |
T |
C |
2: 158,113,998 (GRCm39) |
S299P |
probably damaging |
Het |
Bpifa2 |
A |
G |
2: 153,853,293 (GRCm39) |
D132G |
probably damaging |
Het |
Brd7 |
T |
A |
8: 89,073,615 (GRCm39) |
E258D |
probably benign |
Het |
Btc |
T |
C |
5: 91,550,796 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
A |
G |
6: 118,573,067 (GRCm39) |
V2039A |
|
Het |
Calm4 |
T |
A |
13: 3,888,275 (GRCm39) |
V127E |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,644,766 (GRCm39) |
S1280T |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,748,803 (GRCm39) |
V80A |
unknown |
Het |
Ccdc33 |
A |
G |
9: 58,019,267 (GRCm39) |
*279R |
probably null |
Het |
Cercam |
T |
A |
2: 29,771,936 (GRCm39) |
H585Q |
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,429,296 (GRCm39) |
D138G |
probably benign |
Het |
Cox4i2 |
T |
C |
2: 152,602,573 (GRCm39) |
F89S |
probably damaging |
Het |
Crb1 |
G |
A |
1: 139,165,013 (GRCm39) |
T1098I |
probably damaging |
Het |
Csnk1e |
C |
T |
15: 79,322,967 (GRCm39) |
|
probably null |
Het |
Ctsj |
C |
A |
13: 61,150,897 (GRCm39) |
E187* |
probably null |
Het |
Dagla |
A |
T |
19: 10,233,659 (GRCm39) |
|
probably null |
Het |
Dnah7a |
G |
A |
1: 53,458,912 (GRCm39) |
T3742I |
probably benign |
Het |
Dnajc6 |
A |
C |
4: 101,472,812 (GRCm39) |
H381P |
probably damaging |
Het |
Dyrk3 |
A |
T |
1: 131,057,465 (GRCm39) |
L236Q |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,614,634 (GRCm39) |
D105E |
probably damaging |
Het |
Frmd5 |
A |
T |
2: 121,388,351 (GRCm39) |
L241Q |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,106,749 (GRCm39) |
T662A |
probably benign |
Het |
Gins1 |
C |
T |
2: 150,751,671 (GRCm39) |
|
probably null |
Het |
Gli3 |
T |
A |
13: 15,900,280 (GRCm39) |
N1222K |
possibly damaging |
Het |
Gm4302 |
G |
T |
10: 100,177,521 (GRCm39) |
Q268H |
unknown |
Het |
Grin2d |
A |
T |
7: 45,506,922 (GRCm39) |
W518R |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,723,512 (GRCm39) |
I601F |
probably damaging |
Het |
Gtpbp10 |
A |
T |
5: 5,596,365 (GRCm39) |
N193K |
probably benign |
Het |
Igdcc4 |
T |
G |
9: 65,038,013 (GRCm39) |
V798G |
probably damaging |
Het |
Igkv8-19 |
A |
T |
6: 70,318,396 (GRCm39) |
F13I |
probably benign |
Het |
Kctd11 |
T |
A |
11: 69,770,621 (GRCm39) |
N139I |
probably benign |
Het |
Lmo7 |
G |
A |
14: 102,136,136 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
A |
T |
15: 91,686,123 (GRCm39) |
M2155L |
probably benign |
Het |
Ly6g6g |
C |
T |
15: 74,644,119 (GRCm39) |
V66M |
|
Het |
Mettl24 |
A |
C |
10: 40,559,509 (GRCm39) |
H53P |
probably benign |
Het |
Mier2 |
A |
G |
10: 79,376,133 (GRCm39) |
M264T |
unknown |
Het |
Mplkip |
T |
C |
13: 17,870,122 (GRCm39) |
I18T |
unknown |
Het |
Mtmr2 |
T |
C |
9: 13,699,916 (GRCm39) |
V101A |
probably benign |
Het |
Nbeal2 |
G |
T |
9: 110,455,119 (GRCm39) |
T2593K |
probably benign |
Het |
Neu3 |
A |
T |
7: 99,463,404 (GRCm39) |
C106* |
probably null |
Het |
Nutm1 |
T |
C |
2: 112,082,192 (GRCm39) |
T295A |
probably benign |
Het |
Or2h2b-ps1 |
A |
G |
17: 37,481,269 (GRCm39) |
I90T |
probably benign |
Het |
Pcdhga7 |
G |
T |
18: 37,850,329 (GRCm39) |
V779L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,161,858 (GRCm39) |
E231G |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plcg2 |
T |
A |
8: 118,316,574 (GRCm39) |
|
probably null |
Het |
Pofut2 |
T |
C |
10: 77,095,263 (GRCm39) |
L36P |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,299,754 (GRCm39) |
N635S |
|
Het |
Pramel14 |
A |
C |
4: 143,720,698 (GRCm39) |
I81R |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,395,350 (GRCm39) |
Y818H |
probably damaging |
Het |
Rad18 |
T |
C |
6: 112,658,401 (GRCm39) |
E168G |
probably benign |
Het |
Rev1 |
C |
A |
1: 38,106,626 (GRCm39) |
E634* |
probably null |
Het |
Sec24d |
A |
G |
3: 123,124,000 (GRCm39) |
D403G |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,994,370 (GRCm39) |
S844G |
unknown |
Het |
Slc32a1 |
T |
A |
2: 158,453,416 (GRCm39) |
Y85* |
probably null |
Het |
Slc39a4 |
T |
C |
15: 76,497,458 (GRCm39) |
T485A |
probably damaging |
Het |
Sp5 |
A |
C |
2: 70,307,074 (GRCm39) |
Q253P |
probably benign |
Het |
Sspo |
A |
T |
6: 48,431,913 (GRCm39) |
D709V |
probably damaging |
Het |
Sucnr1 |
A |
G |
3: 59,993,604 (GRCm39) |
Y44C |
probably damaging |
Het |
Taar8b |
A |
G |
10: 23,967,876 (GRCm39) |
L106P |
possibly damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,991,494 (GRCm39) |
D922G |
probably damaging |
Het |
Tbx6 |
A |
T |
7: 126,383,912 (GRCm39) |
D322V |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,065,459 (GRCm39) |
S1630T |
possibly damaging |
Het |
Ube2o |
G |
A |
11: 116,432,327 (GRCm39) |
P880S |
probably benign |
Het |
Uck1 |
C |
T |
2: 32,148,178 (GRCm39) |
R182Q |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,340,957 (GRCm39) |
H2840L |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
Wnk1 |
A |
T |
6: 119,914,822 (GRCm39) |
I1909N |
unknown |
Het |
Zfp352 |
C |
T |
4: 90,112,661 (GRCm39) |
T267I |
probably benign |
Het |
Zfp773 |
A |
T |
7: 7,135,874 (GRCm39) |
C241S |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,668,339 (GRCm39) |
D8G |
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 |
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'- TTGATTCGGTTGCACACTCAG -3'
(R):5'- TGGGTTCCACTTGTCATGAC -3'
Sequencing Primer
(F):5'- GTGGGCATCCAGCTTTTACAAC -3'
(R):5'- TCATGACAATACAGGTCCATGGCTG -3'
|
Posted On |
2019-05-15 |