Incidental Mutation 'R2082:Sema5a'
| ID |
230109 |
| 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 |
040087-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32619002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 510
(M510K)
|
| 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: M510K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: M510K
| 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: ENSMUST00000227802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228442
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,686,391 (GRCm39) |
|
probably null |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,769 (GRCm39) |
I228V |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,797,896 (GRCm39) |
W657R |
possibly damaging |
Het |
| Acsm2 |
T |
A |
7: 119,179,857 (GRCm39) |
H333Q |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 114,501,965 (GRCm39) |
V299I |
probably damaging |
Het |
| Adat2 |
G |
A |
10: 13,435,907 (GRCm39) |
C84Y |
probably damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,633,303 (GRCm39) |
T690I |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,860,155 (GRCm39) |
D1242G |
probably damaging |
Het |
| Casp14 |
A |
G |
10: 78,550,867 (GRCm39) |
M106T |
probably benign |
Het |
| Ccdc69 |
T |
A |
11: 54,943,215 (GRCm39) |
I130F |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,599,513 (GRCm39) |
L189P |
probably damaging |
Het |
| Cfhr1 |
C |
T |
1: 139,478,624 (GRCm39) |
V249I |
possibly damaging |
Het |
| Chst1 |
T |
C |
2: 92,444,335 (GRCm39) |
V269A |
possibly damaging |
Het |
| Col18a1 |
G |
T |
10: 76,895,127 (GRCm39) |
P1178Q |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,545,430 (GRCm39) |
L1014P |
probably damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,751 (GRCm39) |
Y188C |
probably damaging |
Het |
| Dse |
G |
A |
10: 34,031,936 (GRCm39) |
R363C |
probably damaging |
Het |
| Exoc5 |
T |
C |
14: 49,253,044 (GRCm39) |
I525V |
probably benign |
Het |
| Fech |
A |
T |
18: 64,591,260 (GRCm39) |
I388N |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,082,851 (GRCm39) |
L363P |
probably damaging |
Het |
| Gm10842 |
T |
A |
11: 105,037,909 (GRCm39) |
L64Q |
unknown |
Het |
| Gm8225 |
C |
A |
17: 26,762,670 (GRCm39) |
P287Q |
possibly damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,261 (GRCm39) |
L512H |
probably damaging |
Het |
| Ifi30 |
T |
C |
8: 71,216,373 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,671,556 (GRCm39) |
D115E |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,411,577 (GRCm39) |
L174H |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,279,701 (GRCm39) |
V153A |
probably damaging |
Het |
| Krt18 |
G |
A |
15: 101,939,455 (GRCm39) |
|
probably null |
Het |
| Micu1 |
A |
G |
10: 59,699,129 (GRCm39) |
T469A |
probably benign |
Het |
| Mtss2 |
T |
C |
8: 111,452,889 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,786,079 (GRCm39) |
F1253L |
probably damaging |
Het |
| N4bp2 |
A |
T |
5: 65,964,908 (GRCm39) |
T986S |
probably damaging |
Het |
| Naip6 |
C |
A |
13: 100,440,852 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
G |
A |
4: 152,643,821 (GRCm39) |
V1117M |
probably benign |
Het |
| Oca2 |
C |
A |
7: 55,946,885 (GRCm39) |
Q305K |
probably benign |
Het |
| Or56b34 |
C |
T |
7: 104,937,710 (GRCm39) |
Q137* |
probably null |
Het |
| Or5k3 |
T |
A |
16: 58,969,248 (GRCm39) |
F12I |
probably damaging |
Het |
| Or7g27 |
G |
A |
9: 19,250,574 (GRCm39) |
V273I |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,782,158 (GRCm39) |
N8Y |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,764,545 (GRCm39) |
S203T |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,439 (GRCm39) |
|
probably null |
Het |
| Pip4k2c |
T |
C |
10: 127,034,958 (GRCm39) |
D414G |
probably damaging |
Het |
| Pkp1 |
T |
G |
1: 135,812,714 (GRCm39) |
Q329P |
possibly damaging |
Het |
| Polrmt |
A |
T |
10: 79,579,346 (GRCm39) |
I135N |
probably benign |
Het |
| Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,558,746 (GRCm39) |
T439A |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,533,827 (GRCm39) |
Y1555C |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,553,774 (GRCm39) |
D859G |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,461,335 (GRCm39) |
E379G |
probably benign |
Het |
| Slc30a5 |
C |
A |
13: 100,943,041 (GRCm39) |
|
probably null |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,997,616 (GRCm39) |
S1058C |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,191,488 (GRCm39) |
L982P |
possibly damaging |
Het |
| Tmem101 |
G |
T |
11: 102,044,203 (GRCm39) |
T228K |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,728,135 (GRCm39) |
K441N |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,794,222 (GRCm39) |
I228N |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,921,338 (GRCm39) |
I692N |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,230 (GRCm39) |
S665P |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,910,892 (GRCm39) |
V3552A |
possibly damaging |
Het |
| Vps35 |
A |
T |
8: 85,990,094 (GRCm39) |
M638K |
possibly damaging |
Het |
| Vps41 |
T |
G |
13: 19,036,521 (GRCm39) |
I645S |
probably benign |
Het |
| Zfp703 |
T |
C |
8: 27,469,016 (GRCm39) |
S227P |
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 |
|
|
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'- GCAGGAGATTTTCAGTCCTTCAC -3'
(R):5'- TCCTCCTACAAGCCAGGAATAG -3'
Sequencing Primer
(F):5'- CTGAGTCCCCACCTCACCTAG -3'
(R):5'- TCCTACAAGCCAGGAATAGATCAAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation