Incidental Mutation 'R9354:Sema5a'
| ID |
708291 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 32562902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 304
(Y304*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067458
AA Change: Y304*
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: Y304*
| 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: 99.8%
- 20x: 99.4%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,873 (GRCm39) |
Q181R |
unknown |
Het |
| Acsl1 |
T |
G |
8: 46,966,753 (GRCm39) |
C242G |
probably benign |
Het |
| Agap2 |
A |
C |
10: 126,923,104 (GRCm39) |
N646T |
unknown |
Het |
| Ankrd44 |
A |
T |
1: 54,687,438 (GRCm39) |
*994R |
probably null |
Het |
| Apol7c |
C |
T |
15: 77,410,112 (GRCm39) |
R278H |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,921,401 (GRCm39) |
E2166G |
probably benign |
Het |
| Caskin2 |
G |
A |
11: 115,693,468 (GRCm39) |
T528M |
probably damaging |
Het |
| Ccdc30 |
G |
T |
4: 119,230,850 (GRCm39) |
P15Q |
possibly damaging |
Het |
| Cemip2 |
A |
G |
19: 21,779,389 (GRCm39) |
S400G |
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,379,114 (GRCm39) |
T45I |
|
Het |
| Cep68 |
T |
C |
11: 20,188,569 (GRCm39) |
E612G |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,796,392 (GRCm39) |
L446P |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,516,850 (GRCm39) |
Y40N |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,221,922 (GRCm39) |
N496S |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,272,323 (GRCm39) |
D561V |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,818,411 (GRCm38) |
L87Q |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,825 (GRCm39) |
I276F |
possibly damaging |
Het |
| Gid4 |
G |
T |
11: 60,308,618 (GRCm39) |
R46L |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,412,029 (GRCm39) |
D125N |
possibly damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,366 (GRCm39) |
N56S |
probably benign |
Het |
| Grhpr |
G |
T |
4: 44,981,465 (GRCm39) |
R5L |
probably benign |
Het |
| Gstm6 |
A |
T |
3: 107,850,018 (GRCm39) |
N59K |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,694,769 (GRCm39) |
F802L |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,816,348 (GRCm39) |
V159D |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,237,668 (GRCm39) |
S351G |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 127,785,146 (GRCm39) |
H354Q |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,059,875 (GRCm39) |
S641P |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,130,385 (GRCm39) |
T110A |
probably benign |
Het |
| Lcorl |
T |
A |
5: 45,890,968 (GRCm39) |
K545* |
probably null |
Het |
| Lilra6 |
A |
G |
7: 3,914,628 (GRCm39) |
S546P |
probably damaging |
Het |
| Ly6c1 |
T |
A |
15: 74,916,471 (GRCm39) |
I124F |
probably benign |
Het |
| Map4 |
A |
G |
9: 109,897,847 (GRCm39) |
T858A |
probably benign |
Het |
| Marchf5 |
G |
T |
19: 37,185,264 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,307,157 (GRCm39) |
K769E |
|
Het |
| Myh6 |
T |
A |
14: 55,200,992 (GRCm39) |
I157F |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,994 (GRCm39) |
V389A |
probably benign |
Het |
| Or52b3 |
G |
A |
7: 102,204,397 (GRCm39) |
R302H |
possibly damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,949,640 (GRCm39) |
H352R |
probably benign |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,123,848 (GRCm39) |
V73A |
probably damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,342,080 (GRCm39) |
V625I |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,905,473 (GRCm39) |
V61A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,986 (GRCm39) |
E1830G |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,279,313 (GRCm39) |
N445S |
possibly damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,510,749 (GRCm39) |
R222L |
possibly damaging |
Het |
| Rorc |
A |
T |
3: 94,280,170 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,594,432 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,725,757 (GRCm39) |
Y1164C |
probably benign |
Het |
| Slc26a4 |
A |
T |
12: 31,585,255 (GRCm39) |
V513D |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,936,471 (GRCm39) |
D705E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,934,905 (GRCm39) |
T704A |
probably benign |
Het |
| Tex15 |
C |
G |
8: 34,063,344 (GRCm39) |
Q925E |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,875 (GRCm39) |
T145S |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,425,696 (GRCm39) |
C17Y |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,701,027 (GRCm39) |
Y999H |
probably benign |
Het |
| Vat1 |
A |
C |
11: 101,351,441 (GRCm39) |
M300R |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,725 (GRCm39) |
I140F |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,049,663 (GRCm39) |
I695M |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,942,660 (GRCm39) |
R789Q |
unknown |
Het |
| Zswim5 |
G |
A |
4: 116,844,232 (GRCm39) |
G1090D |
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 |
|
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 |
|
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'- ACTGTGGGAAGACGGTGTTC -3'
(R):5'- CCTTTCCTAAAGCGAGTCCTG -3'
Sequencing Primer
(F):5'- AAGACGGTGTTCTCCAGGG -3'
(R):5'- TTTCCTAAAGCGAGTCCTGCAAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation