Incidental Mutation 'R1960:Sema5a'
ID |
318072 |
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 |
039974-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1960 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32562877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 296
(F296S)
|
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: F296S
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000069024 Gene: ENSMUSG00000022231 AA Change: F296S
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
|
Meta Mutation Damage Score |
0.1281 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (95/95) |
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
C |
T |
3: 145,643,976 (GRCm39) |
P55S |
probably damaging |
Het |
Adgre4 |
T |
C |
17: 56,098,497 (GRCm39) |
S136P |
probably benign |
Het |
Aoc1l1 |
C |
T |
6: 48,952,687 (GRCm39) |
T204I |
probably damaging |
Het |
Arap1 |
C |
A |
7: 101,022,222 (GRCm39) |
A8E |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,480,401 (GRCm39) |
H174Q |
possibly damaging |
Het |
Btbd2 |
A |
G |
10: 80,480,539 (GRCm39) |
I358T |
probably benign |
Het |
Camkk2 |
G |
A |
5: 122,875,575 (GRCm39) |
R492* |
probably null |
Het |
Capn3 |
T |
C |
2: 120,294,421 (GRCm39) |
V23A |
probably benign |
Het |
Carm1 |
T |
G |
9: 21,491,606 (GRCm39) |
V225G |
probably benign |
Het |
Ccdc113 |
T |
A |
8: 96,267,459 (GRCm39) |
N141K |
probably benign |
Het |
Ccdc60 |
C |
A |
5: 116,284,243 (GRCm39) |
M298I |
probably benign |
Het |
Celsr3 |
C |
T |
9: 108,723,016 (GRCm39) |
P2801L |
probably benign |
Het |
Clec4n |
T |
A |
6: 123,207,505 (GRCm39) |
V23E |
probably damaging |
Het |
Cmtr2 |
T |
G |
8: 110,948,382 (GRCm39) |
L231V |
probably damaging |
Het |
Csrnp3 |
T |
G |
2: 65,853,363 (GRCm39) |
V585G |
probably null |
Het |
Ctnnd2 |
T |
C |
15: 30,647,257 (GRCm39) |
S318P |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,344,828 (GRCm39) |
|
probably null |
Het |
Dgkd |
C |
A |
1: 87,857,549 (GRCm39) |
P754T |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,724,142 (GRCm39) |
S108P |
probably benign |
Het |
Dnajc24 |
A |
G |
2: 105,832,268 (GRCm39) |
|
probably benign |
Het |
Dner |
A |
T |
1: 84,423,177 (GRCm39) |
S475R |
probably damaging |
Het |
Dtnb |
T |
C |
12: 3,831,190 (GRCm39) |
L630P |
probably benign |
Het |
Dysf |
T |
C |
6: 84,050,885 (GRCm39) |
F411L |
probably benign |
Het |
Fbh1 |
G |
A |
2: 11,762,339 (GRCm39) |
A566V |
probably damaging |
Het |
Fbxw19 |
G |
T |
9: 109,315,004 (GRCm39) |
T186K |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,698,437 (GRCm39) |
V327D |
possibly damaging |
Het |
Gm4825 |
A |
G |
15: 85,395,245 (GRCm39) |
|
noncoding transcript |
Het |
Grhl2 |
T |
A |
15: 37,336,558 (GRCm39) |
V54D |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,551,742 (GRCm39) |
I2621V |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,553,127 (GRCm39) |
E2521V |
possibly damaging |
Het |
Kcng1 |
A |
G |
2: 168,104,904 (GRCm39) |
V314A |
probably benign |
Het |
Kif13a |
G |
A |
13: 47,018,314 (GRCm39) |
|
probably benign |
Het |
Kif21a |
G |
A |
15: 90,855,051 (GRCm39) |
A703V |
probably damaging |
Het |
Kifc1 |
A |
G |
17: 34,103,561 (GRCm39) |
|
probably null |
Het |
Klk13 |
T |
A |
7: 43,370,431 (GRCm39) |
N31K |
possibly damaging |
Het |
Klri1 |
T |
A |
6: 129,674,347 (GRCm39) |
H221L |
probably benign |
Het |
Ltbp4 |
G |
A |
7: 27,028,443 (GRCm39) |
P273L |
unknown |
Het |
Med16 |
T |
C |
10: 79,742,929 (GRCm39) |
H14R |
possibly damaging |
Het |
Mpeg1 |
G |
A |
19: 12,440,275 (GRCm39) |
V578M |
probably damaging |
Het |
Mrgpra2a |
T |
A |
7: 47,076,983 (GRCm39) |
I92F |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,416,374 (GRCm39) |
C3107R |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,055,139 (GRCm39) |
F441I |
probably damaging |
Het |
Ndst4 |
T |
A |
3: 125,232,331 (GRCm39) |
L300* |
probably null |
Het |
Nlgn2 |
G |
T |
11: 69,718,136 (GRCm39) |
D356E |
probably damaging |
Het |
Nlrp2 |
T |
C |
7: 5,330,737 (GRCm39) |
E553G |
probably damaging |
Het |
Oas1f |
G |
A |
5: 120,994,502 (GRCm39) |
C341Y |
possibly damaging |
Het |
Olfm5 |
A |
T |
7: 103,809,619 (GRCm39) |
C111S |
possibly damaging |
Het |
Oplah |
G |
A |
15: 76,181,664 (GRCm39) |
T1119I |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,601 (GRCm39) |
E180G |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,545 (GRCm39) |
L212P |
probably damaging |
Het |
Or6c74 |
C |
T |
10: 129,870,187 (GRCm39) |
Q231* |
probably null |
Het |
Or6f2 |
A |
T |
7: 139,756,596 (GRCm39) |
I188L |
probably benign |
Het |
Or8b12c |
A |
G |
9: 37,715,242 (GRCm39) |
I12V |
probably benign |
Het |
Or8g51 |
T |
A |
9: 38,609,500 (GRCm39) |
H58L |
probably benign |
Het |
Pde10a |
T |
C |
17: 9,161,750 (GRCm39) |
I477T |
possibly damaging |
Het |
Pde4b |
A |
G |
4: 102,454,657 (GRCm39) |
E108G |
probably damaging |
Het |
Pdgfrb |
A |
T |
18: 61,198,855 (GRCm39) |
T338S |
probably benign |
Het |
Pgghg |
A |
G |
7: 140,523,260 (GRCm39) |
M180V |
probably benign |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Pot1b |
A |
T |
17: 55,969,531 (GRCm39) |
Y546N |
probably damaging |
Het |
Rangap1 |
T |
C |
15: 81,590,704 (GRCm39) |
T463A |
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,756,317 (GRCm39) |
I13V |
probably null |
Het |
Rbak |
A |
T |
5: 143,160,437 (GRCm39) |
Y205* |
probably null |
Het |
Reg3b |
A |
T |
6: 78,348,797 (GRCm39) |
K31M |
probably damaging |
Het |
Rfpl4 |
A |
T |
7: 5,118,533 (GRCm39) |
Y12* |
probably null |
Het |
Rnase6 |
A |
G |
14: 51,367,889 (GRCm39) |
N94D |
possibly damaging |
Het |
Rtn4 |
T |
C |
11: 29,686,464 (GRCm39) |
L273P |
probably damaging |
Het |
Ryr3 |
A |
C |
2: 112,624,812 (GRCm39) |
F2203V |
probably damaging |
Het |
Sae1 |
A |
T |
7: 16,102,490 (GRCm39) |
D161E |
possibly damaging |
Het |
Sh3rf1 |
C |
A |
8: 61,837,897 (GRCm39) |
P814Q |
probably damaging |
Het |
Slc22a29 |
C |
A |
19: 8,146,557 (GRCm39) |
R415M |
probably benign |
Het |
Slc25a25 |
C |
T |
2: 32,310,663 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
T |
A |
1: 96,795,654 (GRCm39) |
M135L |
probably benign |
Het |
Slfn1 |
A |
G |
11: 83,012,579 (GRCm39) |
I232V |
possibly damaging |
Het |
Slitrk1 |
T |
A |
14: 109,149,622 (GRCm39) |
N363I |
probably damaging |
Het |
Srr |
A |
G |
11: 74,799,542 (GRCm39) |
V311A |
probably damaging |
Het |
Tasor |
T |
C |
14: 27,160,621 (GRCm39) |
S128P |
probably damaging |
Het |
Tasor |
C |
T |
14: 27,201,746 (GRCm39) |
H1419Y |
possibly damaging |
Het |
Tenm1 |
T |
C |
X: 41,916,078 (GRCm39) |
D402G |
probably benign |
Het |
Topors |
T |
C |
4: 40,261,044 (GRCm39) |
R747G |
unknown |
Het |
Trank1 |
A |
T |
9: 111,220,696 (GRCm39) |
I2478F |
probably damaging |
Het |
Trim69 |
A |
G |
2: 121,998,165 (GRCm39) |
N46D |
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,879,978 (GRCm39) |
L661Q |
probably damaging |
Het |
Ttbk1 |
A |
C |
17: 46,791,150 (GRCm39) |
F45V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,644,649 (GRCm39) |
K4708R |
probably damaging |
Het |
Unkl |
A |
G |
17: 25,428,619 (GRCm39) |
|
probably benign |
Het |
Uros |
A |
T |
7: 133,288,735 (GRCm39) |
N257K |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,873,259 (GRCm39) |
Y439C |
probably damaging |
Het |
Vgf |
A |
G |
5: 137,061,029 (GRCm39) |
|
probably benign |
Het |
Vmn2r8 |
A |
T |
5: 108,947,152 (GRCm39) |
D533E |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,702,995 (GRCm39) |
Y653N |
probably damaging |
Het |
Zfp358 |
T |
C |
8: 3,545,742 (GRCm39) |
V135A |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTCTTCCTACGACATCGG -3'
(R):5'- CTGTTGGCCCAGGAAAATAAG -3'
Sequencing Primer
(F):5'- TTCTTCCGAGAAAACGCCGTG -3'
(R):5'- TAAGAAAGACTTCCTCTAGAGCAAC -3'
|
Posted On |
2015-05-19 |