Incidental Mutation 'R7870:Sema5a'
| ID |
608069 |
| 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 |
045922-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7870 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32609485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 464
(I464F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067458
AA Change: I464F
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: I464F
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,441,505 (GRCm39) |
F171L |
probably benign |
Het |
| 2410137M14Rik |
A |
T |
17: 37,288,909 (GRCm39) |
C152S |
unknown |
Het |
| Alb |
T |
C |
5: 90,620,488 (GRCm39) |
F533L |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,060,135 (GRCm39) |
M616T |
possibly damaging |
Het |
| Atxn2l |
A |
G |
7: 126,091,924 (GRCm39) |
F968L |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,263,641 (GRCm39) |
H1227Q |
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,474,413 (GRCm39) |
D761V |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,909,284 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
T |
C |
7: 99,659,249 (GRCm39) |
L9P |
unknown |
Het |
| Ctr9 |
A |
G |
7: 110,651,618 (GRCm39) |
E946G |
unknown |
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,597,669 (GRCm39) |
M443R |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,578,486 (GRCm39) |
T3082A |
probably benign |
Het |
| Flnc |
C |
T |
6: 29,454,306 (GRCm39) |
T1906I |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,906 (GRCm39) |
I327V |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,126,885 (GRCm39) |
N192K |
possibly damaging |
Het |
| H3f3a |
A |
T |
1: 180,639,490 (GRCm39) |
M1K |
probably null |
Het |
| Htt |
T |
A |
5: 35,055,891 (GRCm39) |
W2601R |
possibly damaging |
Het |
| Il18r1 |
T |
A |
1: 40,530,296 (GRCm39) |
I341K |
probably benign |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Lrp3 |
C |
A |
7: 34,910,922 (GRCm39) |
G41V |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,532,964 (GRCm39) |
K944N |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,249,371 (GRCm39) |
E95V |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,798,446 (GRCm39) |
R769Q |
possibly damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Mymk |
A |
G |
2: 26,952,298 (GRCm39) |
S190P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,215,761 (GRCm39) |
P182L |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,449 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,894,052 (GRCm39) |
Y1174H |
probably damaging |
Het |
| Nyap1 |
G |
C |
5: 137,733,658 (GRCm39) |
Y458* |
probably null |
Het |
| Or4d5 |
A |
C |
9: 40,011,973 (GRCm39) |
V271G |
possibly damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,473 (GRCm39) |
C317S |
probably damaging |
Het |
| Or5h17 |
G |
A |
16: 58,820,086 (GRCm39) |
V13I |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,312,553 (GRCm39) |
G297V |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,124,693 (GRCm39) |
S492R |
probably damaging |
Het |
| Pcyox1 |
G |
A |
6: 86,369,323 (GRCm39) |
R168C |
probably damaging |
Het |
| Plbd1 |
A |
T |
6: 136,594,326 (GRCm39) |
Y308N |
possibly damaging |
Het |
| Rax |
A |
G |
18: 66,071,284 (GRCm39) |
V117A |
probably benign |
Het |
| Rdh9 |
C |
A |
10: 127,612,566 (GRCm39) |
N71K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,853,714 (GRCm39) |
N968S |
probably benign |
Het |
| Sez6l |
T |
G |
5: 112,586,447 (GRCm39) |
D683A |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,459,649 (GRCm39) |
P1310T |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,328,904 (GRCm39) |
M133V |
probably benign |
Het |
| Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
| Srcap |
G |
A |
7: 127,159,730 (GRCm39) |
S3202N |
unknown |
Het |
| Ssh2 |
T |
C |
11: 77,344,441 (GRCm39) |
W809R |
probably benign |
Het |
| Stau1 |
G |
T |
2: 166,792,870 (GRCm39) |
A365D |
possibly damaging |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,508 (GRCm39) |
N329I |
possibly damaging |
Het |
| Tmem65 |
A |
T |
15: 58,659,010 (GRCm39) |
D184E |
probably damaging |
Het |
| Trpm6 |
G |
T |
19: 18,792,605 (GRCm39) |
E676D |
probably benign |
Het |
| Vdr |
T |
G |
15: 97,782,771 (GRCm39) |
D17A |
possibly damaging |
Het |
| Vmn1r123 |
C |
T |
7: 20,896,192 (GRCm39) |
T28I |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,079,513 (GRCm39) |
L207P |
probably damaging |
Het |
| Zfp354c |
TGTCACACTCG |
TG |
11: 50,706,065 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
A |
G |
17: 24,898,304 (GRCm39) |
E402G |
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 |
|
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'- ACAGCTGTGCTACCTGTGTG -3'
(R):5'- TCCAGAGGTTAGTGGCATCAC -3'
Sequencing Primer
(F):5'- GTGCTACCTGTGTGCTCTATTTTC -3'
(R):5'- TTCAATGAAGACCCTGTGTCCCAG -3'
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| Posted On |
2019-12-20 |
Incidental Mutation