Incidental Mutation 'R9298:Sema5a'
| ID |
704747 |
| 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 |
068963-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9298 (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 G
at 32619040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 523
(T523A)
|
| 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: T523A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: T523A
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,198,923 (GRCm39) |
A110D |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,615 (GRCm39) |
E504G |
probably benign |
Het |
| Apbb2 |
T |
C |
5: 66,609,018 (GRCm39) |
K210E |
probably benign |
Het |
| Arhgef37 |
G |
T |
18: 61,651,072 (GRCm39) |
A151D |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,964,114 (GRCm39) |
Y895C |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,560,600 (GRCm39) |
I864V |
possibly damaging |
Het |
| Cdhr17 |
T |
A |
5: 16,996,855 (GRCm39) |
C10* |
probably null |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Col18a1 |
G |
A |
10: 76,893,204 (GRCm39) |
T1057M |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
G |
9: 105,945,534 (GRCm39) |
I860T |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,617,187 (GRCm39) |
H1000Q |
|
Het |
| Cyp4a29 |
T |
A |
4: 115,108,395 (GRCm39) |
M373K |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,333,173 (GRCm39) |
E215G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,597,087 (GRCm39) |
E1972G |
probably damaging |
Het |
| Dusp19 |
T |
C |
2: 80,447,729 (GRCm39) |
M1T |
probably null |
Het |
| Eif4b |
A |
G |
15: 101,990,449 (GRCm39) |
T18A |
possibly damaging |
Het |
| Exosc6 |
G |
A |
8: 111,783,513 (GRCm39) |
A171T |
probably damaging |
Het |
| Fau |
G |
A |
19: 6,108,297 (GRCm39) |
R6H |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,501,879 (GRCm39) |
D583G |
probably damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,695 (GRCm39) |
L444* |
probably null |
Het |
| Gm10226 |
A |
G |
17: 21,910,768 (GRCm39) |
E1G |
probably null |
Het |
| Gm14443 |
A |
T |
2: 175,011,869 (GRCm39) |
C192* |
probably null |
Het |
| Gm4353 |
T |
A |
7: 115,682,843 (GRCm39) |
N246I |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,926,327 (GRCm39) |
L41P |
probably benign |
Het |
| Iigp1 |
T |
G |
18: 60,523,063 (GRCm39) |
D60E |
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,353,035 (GRCm39) |
V248D |
probably damaging |
Het |
| Kctd14 |
A |
G |
7: 97,107,243 (GRCm39) |
K166R |
probably benign |
Het |
| Kdm4d |
G |
A |
9: 14,375,336 (GRCm39) |
T174M |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,528,493 (GRCm39) |
|
probably null |
Het |
| Maz |
CGCGGCCTCGGCGGCTGGTGCGG |
CGCGG |
7: 126,625,075 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,202,082 (GRCm39) |
Q115R |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,635,640 (GRCm39) |
I93F |
probably damaging |
Het |
| Or2h1b |
A |
T |
17: 37,462,572 (GRCm39) |
V97D |
probably damaging |
Het |
| Or5b95 |
T |
A |
19: 12,658,190 (GRCm39) |
C239* |
probably null |
Het |
| Pigc |
C |
T |
1: 161,798,032 (GRCm39) |
R5C |
probably benign |
Het |
| Plekhm2 |
C |
A |
4: 141,356,829 (GRCm39) |
M771I |
probably benign |
Het |
| Runx1 |
T |
A |
16: 92,441,147 (GRCm39) |
T221S |
possibly damaging |
Het |
| S100pbp |
A |
G |
4: 129,044,847 (GRCm39) |
Y363H |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,851 (GRCm39) |
F270S |
possibly damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,693,538 (GRCm39) |
S491P |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,300,300 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc7a6 |
T |
C |
8: 106,922,534 (GRCm39) |
V440A |
probably damaging |
Het |
| Sobp |
A |
T |
10: 42,898,902 (GRCm39) |
C228S |
probably damaging |
Het |
| Svop |
G |
A |
5: 114,168,231 (GRCm39) |
T456M |
probably benign |
Het |
| Synrg |
A |
G |
11: 83,900,278 (GRCm39) |
D750G |
probably damaging |
Het |
| Syt14 |
C |
A |
1: 192,612,944 (GRCm39) |
E336* |
probably null |
Het |
| Tcp11l1 |
C |
T |
2: 104,528,897 (GRCm39) |
V134I |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,594,029 (GRCm39) |
R110G |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,562 (GRCm39) |
H443Q |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,108,335 (GRCm39) |
R506Q |
possibly damaging |
Het |
| Vmn1r121 |
A |
C |
7: 20,832,344 (GRCm39) |
V32G |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,580,714 (GRCm39) |
F246L |
probably benign |
Het |
| Zfp672 |
A |
T |
11: 58,220,590 (GRCm39) |
M3K |
unknown |
Het |
| Zfp709 |
A |
T |
8: 72,644,648 (GRCm39) |
E692D |
possibly damaging |
Het |
| Zglp1 |
A |
T |
9: 20,977,482 (GRCm39) |
L111Q |
probably benign |
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 |
|
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'- CCTCACCTAGGTCTGTTTCATAGG -3'
(R):5'- ACAAACTCTGTAGAGGCTTGTG -3'
Sequencing Primer
(F):5'- CACCTAGGTCTGTTTCATAGGTCATG -3'
(R):5'- TGTGGTCCTCCTACAAGCCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation