Incidental Mutation 'R7273:Sema5a'
ID |
565419 |
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 |
045357-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7273 (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 32417608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 26
(D26G)
|
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: D26G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069024 Gene: ENSMUSG00000022231 AA Change: D26G
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: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (49/49) |
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 |
Apol10a |
A |
T |
15: 77,373,068 (GRCm39) |
I235F |
probably damaging |
Het |
Aspn |
A |
T |
13: 49,712,352 (GRCm39) |
E222D |
probably benign |
Het |
Cfap221 |
A |
T |
1: 119,881,948 (GRCm39) |
V280D |
possibly damaging |
Het |
Chrd |
G |
A |
16: 20,560,316 (GRCm39) |
R922Q |
probably benign |
Het |
Cnga4 |
T |
A |
7: 105,056,172 (GRCm39) |
V361E |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,284,467 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
G |
9: 105,877,656 (GRCm39) |
V2107A |
possibly damaging |
Het |
Eea1 |
G |
T |
10: 95,825,493 (GRCm39) |
V63F |
probably benign |
Het |
Eml1 |
A |
G |
12: 108,504,432 (GRCm39) |
H797R |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,151,167 (GRCm39) |
T141A |
probably benign |
Het |
Il6st |
T |
C |
13: 112,631,832 (GRCm39) |
V457A |
probably benign |
Het |
Kif19b |
T |
A |
5: 140,461,767 (GRCm39) |
V523E |
probably damaging |
Het |
Lrrc56 |
T |
C |
7: 140,789,578 (GRCm39) |
C532R |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,721,749 (GRCm39) |
S23G |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,125,148 (GRCm39) |
D498E |
probably benign |
Het |
Mcam |
T |
C |
9: 44,052,241 (GRCm39) |
F584S |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,188,912 (GRCm39) |
D50E |
unknown |
Het |
Mga |
T |
C |
2: 119,765,695 (GRCm39) |
S1320P |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,405,307 (GRCm39) |
G905D |
unknown |
Het |
Ncor2 |
T |
C |
5: 125,100,687 (GRCm39) |
N1297S |
|
Het |
Nisch |
A |
G |
14: 30,896,364 (GRCm39) |
V946A |
unknown |
Het |
Npc1l1 |
A |
G |
11: 6,168,320 (GRCm39) |
F957S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,857,057 (GRCm39) |
N402S |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,025,854 (GRCm39) |
T159A |
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,933,961 (GRCm39) |
I91F |
probably benign |
Het |
Otud1 |
A |
G |
2: 19,663,873 (GRCm39) |
D334G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
Prepl |
A |
C |
17: 85,389,420 (GRCm39) |
V128G |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,478,791 (GRCm39) |
V568A |
probably damaging |
Het |
Rab10 |
G |
T |
12: 3,306,891 (GRCm39) |
S101R |
probably benign |
Het |
Rfx3 |
C |
T |
19: 27,779,858 (GRCm39) |
R435Q |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,322,582 (GRCm39) |
|
probably null |
Het |
Slc49a3 |
T |
C |
5: 108,589,857 (GRCm39) |
D515G |
probably benign |
Het |
Spata31d1b |
G |
A |
13: 59,865,446 (GRCm39) |
V865I |
probably benign |
Het |
Sycp3 |
A |
T |
10: 88,305,428 (GRCm39) |
Q176H |
probably damaging |
Het |
Tdpoz8 |
G |
T |
3: 92,981,475 (GRCm39) |
M90I |
probably damaging |
Het |
Tmprss11d |
A |
T |
5: 86,485,098 (GRCm39) |
V102D |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,535,931 (GRCm39) |
V457A |
probably benign |
Het |
Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
Ubr3 |
G |
A |
2: 69,809,677 (GRCm39) |
D1217N |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,201,302 (GRCm39) |
I1146T |
probably damaging |
Het |
Umod |
T |
C |
7: 119,076,250 (GRCm39) |
Q172R |
probably benign |
Het |
Uqcc5 |
G |
T |
14: 30,846,555 (GRCm39) |
R55S |
probably damaging |
Het |
Zdbf2 |
C |
T |
1: 63,342,563 (GRCm39) |
A314V |
possibly damaging |
Het |
Zfp787 |
A |
T |
7: 6,136,039 (GRCm39) |
C71S |
possibly damaging |
Het |
Zhx2 |
C |
T |
15: 57,686,824 (GRCm39) |
A731V |
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 |
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'- GTAGGACTTTTCCAAAACACTACCC -3'
(R):5'- TCTGGGATGCTCTATGAGGAAC -3'
Sequencing Primer
(F):5'- ACAAAACCTGAGCTCATATTTATAGG -3'
(R):5'- GGATGCTCTATGAGGAACTACTACTC -3'
|
Posted On |
2019-06-26 |