Incidental Mutation 'R9235:Sema5a'
| ID |
700444 |
| 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 # |
R9235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32619034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 521
(S521G)
|
| 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: S521G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: S521G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,623,518 (GRCm39) |
I76N |
possibly damaging |
Het |
| 4930558K02Rik |
T |
C |
1: 161,780,172 (GRCm39) |
H114R |
possibly damaging |
Het |
| C2 |
T |
C |
17: 35,083,845 (GRCm39) |
D414G |
probably damaging |
Het |
| Catsper4 |
C |
T |
4: 133,954,606 (GRCm39) |
D15N |
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,318,163 (GRCm39) |
V203A |
probably damaging |
Het |
| Cd2 |
A |
G |
3: 101,195,159 (GRCm39) |
F13L |
probably benign |
Het |
| Cwf19l1 |
G |
A |
19: 44,113,275 (GRCm39) |
A227V |
probably damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,749,061 (GRCm39) |
D176N |
possibly damaging |
Het |
| Dmpk |
T |
G |
7: 18,822,141 (GRCm39) |
N366K |
probably damaging |
Het |
| Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,907,987 (GRCm39) |
D4479G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,833,674 (GRCm39) |
E126V |
probably null |
Het |
| Fbxo27 |
T |
A |
7: 28,397,756 (GRCm39) |
Y264* |
probably null |
Het |
| Fign |
A |
G |
2: 63,810,907 (GRCm39) |
M121T |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,320,202 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Frmd4a |
G |
A |
2: 4,599,366 (GRCm39) |
R460H |
probably damaging |
Het |
| Igkv4-53 |
A |
T |
6: 69,626,301 (GRCm39) |
I13N |
possibly damaging |
Het |
| Islr |
T |
A |
9: 58,064,944 (GRCm39) |
I188F |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Klra3 |
A |
T |
6: 130,311,218 (GRCm39) |
C54* |
probably null |
Het |
| Klrb1b |
A |
G |
6: 128,795,547 (GRCm39) |
F140S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,997 (GRCm39) |
E3437G |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,739,122 (GRCm39) |
L3648I |
probably benign |
Het |
| Mlxipl |
C |
A |
5: 135,157,541 (GRCm39) |
T359K |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,659,321 (GRCm39) |
W410R |
probably damaging |
Het |
| Mrpl49 |
G |
A |
19: 6,105,147 (GRCm39) |
R105* |
probably null |
Het |
| Myom3 |
T |
A |
4: 135,541,653 (GRCm39) |
Y1415N |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,330,760 (GRCm39) |
Y1100* |
probably null |
Het |
| Or14a257 |
A |
T |
7: 86,138,306 (GRCm39) |
V151E |
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,724 (GRCm39) |
I223N |
probably damaging |
Het |
| Or5t5 |
T |
C |
2: 86,616,548 (GRCm39) |
I158T |
probably benign |
Het |
| Or6c8b |
G |
T |
10: 128,882,051 (GRCm39) |
Q294K |
probably benign |
Het |
| Pank1 |
C |
A |
19: 34,856,197 (GRCm39) |
A94S |
probably benign |
Het |
| Pikfyve |
C |
A |
1: 65,299,188 (GRCm39) |
T1613K |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,626,554 (GRCm39) |
I352L |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,701 (GRCm39) |
D3412G |
probably damaging |
Het |
| Plekhd1 |
T |
A |
12: 80,768,791 (GRCm39) |
Y425N |
possibly damaging |
Het |
| Plscr5 |
A |
G |
9: 92,086,417 (GRCm39) |
N129S |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,651,751 (GRCm39) |
M3796K |
probably damaging |
Het |
| Psme3 |
A |
T |
11: 101,211,594 (GRCm39) |
E213D |
possibly damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,233,271 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
T |
5: 53,226,667 (GRCm39) |
M597L |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,301,984 (GRCm39) |
R189G |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,295,689 (GRCm39) |
E782K |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,466,718 (GRCm39) |
C4078S |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,774,559 (GRCm39) |
R271L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,045,982 (GRCm39) |
L114P |
|
Het |
| Ugt1a2 |
A |
G |
1: 88,128,488 (GRCm39) |
R44G |
possibly damaging |
Het |
| Ulk4 |
G |
A |
9: 120,981,217 (GRCm39) |
T907I |
probably benign |
Het |
| Unc13a |
G |
T |
8: 72,115,912 (GRCm39) |
L97I |
probably benign |
Het |
| Uqcc6 |
A |
T |
10: 82,458,586 (GRCm39) |
C22S |
possibly damaging |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,488 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,238 (GRCm39) |
N341K |
probably damaging |
Het |
| Wdr3 |
T |
A |
3: 100,054,023 (GRCm39) |
Q534L |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,397,605 (GRCm39) |
H680L |
probably damaging |
Het |
| Zfp986 |
T |
A |
4: 145,625,759 (GRCm39) |
F140I |
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 |
|
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'- GGCAGGAGATTTTCAGTCCTTC -3'
(R):5'- GTCCTCCTACAAGCCAGGAATAG -3'
Sequencing Primer
(F):5'- CACCTAGGTCTGTTTCATAGGTCATG -3'
(R):5'- TCCTACAAGCCAGGAATAGATCAAG -3'
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| Posted On |
2022-02-07 |
Incidental Mutation