Incidental Mutation 'R2698:Sema5a'
| ID |
251385 |
| 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 |
040436-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2698 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32673546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 795
(Q795K)
|
| 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: Q795K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: Q795K
| 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 |
0.0793 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,578,862 (GRCm39) |
R901G |
possibly damaging |
Het |
| Abhd18 |
T |
A |
3: 40,885,401 (GRCm39) |
M262K |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,689,309 (GRCm39) |
L145I |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,408,426 (GRCm39) |
W874R |
probably damaging |
Het |
| Cox4i1 |
G |
T |
8: 121,396,102 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
A |
T |
13: 104,943,259 (GRCm39) |
N94K |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,804,342 (GRCm39) |
S372P |
probably damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,681 (GRCm39) |
N356S |
probably damaging |
Het |
| Dusp8 |
A |
G |
7: 141,635,701 (GRCm39) |
|
probably benign |
Het |
| Erc2 |
G |
A |
14: 27,993,662 (GRCm39) |
V894M |
probably benign |
Het |
| Fbxo28 |
T |
A |
1: 182,144,719 (GRCm39) |
I282F |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,729,421 (GRCm39) |
H453R |
probably benign |
Het |
| Glrx |
T |
A |
13: 75,988,065 (GRCm39) |
|
probably null |
Het |
| Gm11541 |
A |
T |
11: 94,586,441 (GRCm39) |
L102* |
probably null |
Het |
| Gm5113 |
T |
A |
7: 29,878,150 (GRCm39) |
Y79* |
probably null |
Het |
| Gpr87 |
T |
A |
3: 59,086,587 (GRCm39) |
N306I |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,336,561 (GRCm39) |
Y5113N |
possibly damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,390,430 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
A |
6: 95,103,570 (GRCm39) |
Y406* |
probably null |
Het |
| Lamb1 |
G |
T |
12: 31,348,882 (GRCm39) |
R590L |
probably benign |
Het |
| Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,367,845 (GRCm39) |
E165G |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,305,557 (GRCm39) |
R276C |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,841,028 (GRCm39) |
T1384S |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,217,780 (GRCm39) |
|
probably null |
Het |
| Morc2a |
T |
C |
11: 3,635,400 (GRCm39) |
V797A |
probably damaging |
Het |
| Mrps23 |
T |
C |
11: 88,096,193 (GRCm39) |
|
probably benign |
Het |
| Muc17 |
A |
T |
5: 137,175,484 (GRCm39) |
I62K |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,349,630 (GRCm38) |
|
noncoding transcript |
Het |
| Nptx1 |
A |
T |
11: 119,435,669 (GRCm39) |
|
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,208 (GRCm39) |
I210K |
possibly damaging |
Het |
| Pabpc1l |
T |
G |
2: 163,886,302 (GRCm39) |
|
probably null |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,575 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,250,349 (GRCm39) |
Q230R |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,824,282 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptch1 |
T |
A |
13: 63,690,038 (GRCm39) |
N320Y |
probably damaging |
Het |
| Qars1 |
G |
A |
9: 108,385,642 (GRCm39) |
V60I |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,147,367 (GRCm39) |
S410P |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,970 (GRCm39) |
K297E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,814,720 (GRCm39) |
E294G |
probably benign |
Het |
| Scaf4 |
T |
A |
16: 90,041,244 (GRCm39) |
I695F |
unknown |
Het |
| Scrn2 |
T |
C |
11: 96,923,122 (GRCm39) |
|
probably benign |
Het |
| Scx |
T |
A |
15: 76,342,363 (GRCm39) |
C188S |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 142,197,805 (GRCm39) |
V1893L |
possibly damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,455,487 (GRCm39) |
S459G |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,820,372 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
T |
C |
10: 23,837,328 (GRCm39) |
Y313H |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,419,322 (GRCm39) |
F79S |
probably damaging |
Het |
| Tnfaip8l2 |
T |
A |
3: 95,047,672 (GRCm39) |
I64F |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,372 (GRCm39) |
T102A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,976,222 (GRCm39) |
N160K |
probably damaging |
Het |
| Ttc22 |
A |
G |
4: 106,496,435 (GRCm39) |
Y495C |
probably benign |
Het |
| Usp50 |
A |
G |
2: 126,619,949 (GRCm39) |
I121T |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,885 (GRCm39) |
S780P |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,607 (GRCm39) |
V601D |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,413,734 (GRCm39) |
A199T |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,222,969 (GRCm39) |
T415A |
possibly damaging |
Het |
| Zfp760 |
C |
T |
17: 21,939,935 (GRCm39) |
T9I |
probably damaging |
Het |
| Zfp998 |
A |
G |
13: 66,581,495 (GRCm39) |
S59P |
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 |
|
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'- TGAAGTATGAAAGGGTTCAGTTGAC -3'
(R):5'- GTCTCCAGTGGCTTCAGTAC -3'
Sequencing Primer
(F):5'- ATGAAAGGGTTCAGTTGACTATTAGG -3'
(R):5'- CCAGTGGCTTCAGTACTTAAAGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation