Incidental Mutation 'R7037:Sema5a'
| ID |
546793 |
| 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 |
045137-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32686993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1035
(K1035R)
|
| 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: K1035R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: K1035R
| 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 |
|
| Meta Mutation Damage Score |
0.1458 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
T |
7: 119,367,266 (GRCm39) |
N33I |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,740,712 (GRCm39) |
V314D |
probably damaging |
Het |
| Arl14epl |
T |
G |
18: 47,065,510 (GRCm39) |
C92G |
probably benign |
Het |
| Atp6v1h |
T |
A |
1: 5,220,215 (GRCm39) |
M423K |
possibly damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,764,014 (GRCm39) |
|
probably null |
Het |
| Bicral |
T |
C |
17: 47,135,560 (GRCm39) |
H550R |
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,598 (GRCm39) |
Y323C |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,609,036 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,344,267 (GRCm39) |
R91* |
probably null |
Het |
| Coro1c |
A |
G |
5: 113,983,457 (GRCm39) |
F357S |
possibly damaging |
Het |
| Cpsf4 |
G |
A |
5: 145,112,939 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Cryzl2 |
G |
A |
1: 157,298,318 (GRCm39) |
V236I |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,435,117 (GRCm39) |
E247G |
probably damaging |
Het |
| Dbr1 |
T |
A |
9: 99,458,621 (GRCm39) |
|
probably null |
Het |
| Dclk1 |
T |
C |
3: 55,370,469 (GRCm39) |
S23P |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,692,938 (GRCm39) |
I361F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,874,537 (GRCm39) |
E218G |
probably benign |
Het |
| Eml4 |
T |
A |
17: 83,732,756 (GRCm39) |
D136E |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,118,844 (GRCm39) |
S223T |
probably benign |
Het |
| Garin5b |
G |
T |
7: 4,761,584 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
G |
T |
9: 121,794,592 (GRCm39) |
V249L |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,474 (GRCm39) |
C69R |
unknown |
Het |
| Gna14 |
A |
T |
19: 16,511,128 (GRCm39) |
H59L |
|
Het |
| H2-Ab1 |
T |
A |
17: 34,486,963 (GRCm39) |
I239N |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,717 (GRCm39) |
S809P |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,896,391 (GRCm39) |
Y1379* |
probably null |
Het |
| Kank1 |
A |
G |
19: 25,407,705 (GRCm39) |
D1233G |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,764,504 (GRCm39) |
D846E |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,791,251 (GRCm39) |
H38R |
probably damaging |
Het |
| Mc3r |
T |
C |
2: 172,091,554 (GRCm39) |
F259L |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,532,206 (GRCm39) |
Y384H |
probably damaging |
Het |
| Met |
A |
T |
6: 17,547,127 (GRCm39) |
|
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,116,148 (GRCm39) |
V584A |
possibly damaging |
Het |
| Mrgprb3 |
A |
G |
7: 48,292,942 (GRCm39) |
L203P |
probably damaging |
Het |
| Mus81 |
A |
G |
19: 5,536,108 (GRCm39) |
L185P |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,424,934 (GRCm39) |
V75A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,934,755 (GRCm39) |
T5292S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,430 (GRCm39) |
S4801G |
probably damaging |
Het |
| Or2ag19 |
T |
C |
7: 106,444,543 (GRCm39) |
S242P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,538,882 (GRCm39) |
D1112G |
probably benign |
Het |
| Pals1 |
T |
A |
12: 78,843,973 (GRCm39) |
I59N |
probably damaging |
Het |
| Pbx4 |
A |
G |
8: 70,317,525 (GRCm39) |
R170G |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Plce1 |
A |
T |
19: 38,690,461 (GRCm39) |
D715V |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,246,770 (GRCm39) |
T311A |
possibly damaging |
Het |
| Popdc2 |
A |
G |
16: 38,194,629 (GRCm39) |
D350G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,429,100 (GRCm39) |
V661A |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,545,557 (GRCm39) |
Y130H |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,727,971 (GRCm39) |
R2707W |
probably damaging |
Het |
| Rpl37 |
G |
A |
15: 5,147,185 (GRCm39) |
R75K |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,779,475 (GRCm39) |
R259* |
probably null |
Het |
| Scai |
A |
T |
2: 39,080,633 (GRCm39) |
S8T |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,211,726 (GRCm39) |
L1430F |
probably damaging |
Het |
| Siah3 |
A |
G |
14: 75,763,025 (GRCm39) |
H92R |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,925,528 (GRCm39) |
V342I |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,848,138 (GRCm39) |
C1330Y |
possibly damaging |
Het |
| St18 |
C |
A |
1: 6,873,260 (GRCm39) |
H332N |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,806,250 (GRCm39) |
E480D |
possibly damaging |
Het |
| Tex14 |
A |
T |
11: 87,388,741 (GRCm39) |
I323F |
probably damaging |
Het |
| Tm7sf2 |
A |
T |
19: 6,114,107 (GRCm39) |
|
probably null |
Het |
| Tmem241 |
G |
T |
18: 12,246,463 (GRCm39) |
H62Q |
probably benign |
Het |
| Tmem54 |
T |
A |
4: 129,004,594 (GRCm39) |
|
probably null |
Het |
| Tomm34 |
A |
G |
2: 163,912,398 (GRCm39) |
L39P |
probably damaging |
Het |
| Triml2 |
T |
A |
8: 43,646,573 (GRCm39) |
V354D |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,374,157 (GRCm39) |
I738T |
possibly damaging |
Het |
| Utp25 |
A |
C |
1: 192,803,031 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,702,514 (GRCm39) |
|
probably null |
Het |
| Zfp1005 |
G |
T |
2: 150,108,376 (GRCm39) |
V46F |
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 |
|
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 |
|
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'- TAGCAGTTCCATTCTTGGCTG -3'
(R):5'- CAGCCACTACTCATAGGCTTCC -3'
Sequencing Primer
(F):5'- GGCTGCCTCCTCACACTG -3'
(R):5'- TAGGCTTCCTACAACTACTACAGGGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation