Incidental Mutation 'R7621:Sema5a'
| ID |
589163 |
| 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 |
045688-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32609378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 428
(T428N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067458
AA Change: T428N
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: T428N
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,051,359 (GRCm39) |
K112N |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,866,087 (GRCm39) |
S232P |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,629 (GRCm39) |
M108L |
possibly damaging |
Het |
| Ces1g |
A |
T |
8: 94,055,094 (GRCm39) |
V201D |
probably damaging |
Het |
| Cltc |
C |
A |
11: 86,598,312 (GRCm39) |
V1017L |
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,516 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csrnp1 |
C |
A |
9: 119,806,158 (GRCm39) |
A39S |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,808,322 (GRCm39) |
D258G |
possibly damaging |
Het |
| Entrep1 |
A |
C |
19: 23,972,168 (GRCm39) |
S179A |
possibly damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,300 (GRCm39) |
D29V |
probably benign |
Het |
| Gm4340 |
T |
C |
10: 104,031,820 (GRCm39) |
V188A |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,540,375 (GRCm39) |
M98T |
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,903,476 (GRCm39) |
D315E |
probably benign |
Het |
| Hsph1 |
A |
C |
5: 149,555,540 (GRCm39) |
Y89D |
probably damaging |
Het |
| Ighv11-2 |
T |
A |
12: 114,012,008 (GRCm39) |
D69V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,995,528 (GRCm39) |
G438D |
possibly damaging |
Het |
| Krt6a |
G |
T |
15: 101,600,187 (GRCm39) |
T355K |
possibly damaging |
Het |
| Lce1m |
T |
C |
3: 92,925,177 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
A |
T |
1: 24,767,625 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,442,841 (GRCm39) |
E508G |
probably damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,809,899 (GRCm39) |
V312I |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,789,834 (GRCm39) |
K477* |
probably null |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,176,280 (GRCm39) |
C105Y |
probably benign |
Het |
| Or4f14d |
T |
C |
2: 111,960,926 (GRCm39) |
T77A |
probably benign |
Het |
| Or55b3 |
G |
A |
7: 102,126,472 (GRCm39) |
R202C |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,447 (GRCm39) |
F31L |
probably benign |
Het |
| Pgap6 |
C |
A |
17: 26,336,865 (GRCm39) |
P261Q |
probably benign |
Het |
| Pkm |
T |
A |
9: 59,585,441 (GRCm39) |
C474* |
probably null |
Het |
| Prr36 |
T |
A |
8: 4,263,150 (GRCm39) |
I839F |
unknown |
Het |
| Qtrt2 |
A |
G |
16: 43,689,303 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
A |
T |
16: 97,547,125 (GRCm39) |
V379E |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,133,042 (GRCm39) |
P304Q |
|
Het |
| Saxo2 |
A |
T |
7: 82,297,625 (GRCm39) |
C5S |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,742 (GRCm39) |
G711D |
probably damaging |
Het |
| Setd5 |
C |
A |
6: 113,121,010 (GRCm39) |
P1073Q |
possibly damaging |
Het |
| Sh2d5 |
T |
G |
4: 137,984,150 (GRCm39) |
C173G |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,080,823 (GRCm39) |
V350G |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,106,743 (GRCm39) |
C15R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,295 (GRCm39) |
F940Y |
possibly damaging |
Het |
| Spata17 |
T |
A |
1: 186,854,833 (GRCm39) |
|
probably null |
Het |
| Specc1 |
A |
G |
11: 62,019,210 (GRCm39) |
N603S |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,421,673 (GRCm39) |
D355G |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,894,426 (GRCm39) |
D807G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,754,934 (GRCm39) |
T174A |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,907,274 (GRCm39) |
Y151H |
probably benign |
Het |
| Wdr12 |
G |
A |
1: 60,136,748 (GRCm39) |
|
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 |
|
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'- GTTCTCAGGCTTGCAACTGC -3'
(R):5'- ATGGAAGTGGCACCTCTTC -3'
Sequencing Primer
(F):5'- AGATCAGGAGTTCTCACCACTGG -3'
(R):5'- CACCTCTTCAGGGGGATCTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation