Incidental Mutation 'R0409:Sema5a'
| ID |
36538 |
| 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 |
038611-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0409 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32681755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 945
(N945Y)
|
| 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: N945Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: N945Y
| 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: ENSMUST00000227429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227976
|
| Meta Mutation Damage Score |
0.8464 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
100% (55/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,816 (GRCm39) |
A89S |
probably damaging |
Het |
| Alkbh3 |
T |
A |
2: 93,831,793 (GRCm39) |
I146F |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,375,783 (GRCm39) |
I871F |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,385 (GRCm39) |
V509G |
possibly damaging |
Het |
| Car7 |
G |
A |
8: 105,275,056 (GRCm39) |
A165T |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,535,423 (GRCm39) |
V271A |
probably benign |
Het |
| Cdc40 |
G |
T |
10: 40,723,164 (GRCm39) |
H302N |
probably damaging |
Het |
| Cep104 |
C |
T |
4: 154,067,510 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
A |
10: 92,612,075 (GRCm39) |
S3161I |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,942,282 (GRCm39) |
|
probably benign |
Het |
| Chil6 |
C |
T |
3: 106,311,492 (GRCm39) |
G96D |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,475,483 (GRCm39) |
K531E |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Disp3 |
T |
G |
4: 148,356,416 (GRCm39) |
E148A |
probably damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,922,893 (GRCm39) |
Y52C |
probably damaging |
Het |
| Exph5 |
C |
A |
9: 53,285,643 (GRCm39) |
T908K |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,031,562 (GRCm39) |
S2449F |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,948,751 (GRCm39) |
N154K |
probably benign |
Het |
| Fbxo43 |
C |
T |
15: 36,162,503 (GRCm39) |
A235T |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,180 (GRCm39) |
|
probably null |
Het |
| Fsd1l |
T |
C |
4: 53,679,932 (GRCm39) |
L210P |
probably benign |
Het |
| Gm6420 |
A |
C |
1: 23,295,119 (GRCm39) |
S123R |
unknown |
Het |
| Gm8801 |
T |
G |
17: 36,258,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
T |
C |
14: 47,053,679 (GRCm39) |
I36V |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,427,443 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,829,339 (GRCm39) |
I969L |
possibly damaging |
Het |
| Il21r |
G |
T |
7: 125,229,012 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,867,063 (GRCm39) |
F893L |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,472,739 (GRCm39) |
I1715V |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,287,628 (GRCm39) |
I1339T |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
| Noc3l |
A |
G |
19: 38,806,371 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
A |
G |
8: 95,030,293 (GRCm39) |
D384G |
probably damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,646 (GRCm39) |
C187* |
probably null |
Het |
| Or5p54 |
T |
C |
7: 107,554,433 (GRCm39) |
I195T |
probably benign |
Het |
| Or8b40 |
C |
T |
9: 38,027,547 (GRCm39) |
L152F |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,668,972 (GRCm39) |
|
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,024,200 (GRCm39) |
H75L |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,449 (GRCm39) |
Y539* |
probably null |
Het |
| Rnf10 |
A |
T |
5: 115,393,506 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,582 (GRCm39) |
Y234C |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,741,717 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,409,832 (GRCm39) |
M240K |
probably benign |
Het |
| Snapc4 |
C |
A |
2: 26,257,228 (GRCm39) |
R799L |
probably benign |
Het |
| Spata31g1 |
A |
C |
4: 42,972,203 (GRCm39) |
K512T |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,599,860 (GRCm39) |
|
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,108,532 (GRCm39) |
I5L |
probably benign |
Het |
| Tfpt |
G |
A |
7: 3,623,898 (GRCm39) |
Q50* |
probably null |
Het |
| Trim80 |
T |
C |
11: 115,332,039 (GRCm39) |
V77A |
probably damaging |
Het |
| Trp73 |
T |
A |
4: 154,148,841 (GRCm39) |
D256V |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,519,345 (GRCm39) |
N2202K |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,858,926 (GRCm39) |
F2792Y |
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 |
|
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 |
|
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'- TCAATATCATCAGGTAGCCCTGCCTC -3'
(R):5'- ACCTAGTTTTCAAGAAGTCTGCCACAC -3'
Sequencing Primer
(F):5'- TAGCCCTGCCTCTCCCC -3'
(R):5'- AAGAGAATGGCCCTTTTCTCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation