Incidental Mutation 'R9663:Sema5a'
ID |
727713 |
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 # |
R9663 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 32673546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 795
(Q795*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067458]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000067458
AA Change: Q795*
|
SMART Domains |
Protein: ENSMUSP00000069024 Gene: ENSMUSG00000022231 AA Change: Q795*
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: 99.6%
- 20x: 98.6%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh6 |
T |
C |
7: 30,013,371 (GRCm39) |
S161P |
probably damaging |
Het |
Alppl2 |
T |
A |
1: 87,015,753 (GRCm39) |
H297L |
probably benign |
Het |
Angptl2 |
A |
G |
2: 33,118,231 (GRCm39) |
R2G |
probably benign |
Het |
Arhgef15 |
T |
A |
11: 68,845,255 (GRCm39) |
N199I |
probably damaging |
Het |
Asns |
A |
T |
6: 7,680,132 (GRCm39) |
I328K |
probably damaging |
Het |
Atad2 |
G |
T |
15: 57,971,540 (GRCm39) |
T734K |
probably benign |
Het |
Capn3 |
A |
C |
2: 120,316,859 (GRCm39) |
M283L |
probably benign |
Het |
Catsperd |
T |
A |
17: 56,960,751 (GRCm39) |
C384S |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,911,222 (GRCm39) |
V816A |
probably benign |
Het |
Cd5 |
T |
G |
19: 10,703,858 (GRCm39) |
D68A |
probably benign |
Het |
Ceacam18 |
G |
A |
7: 43,288,764 (GRCm39) |
V172M |
probably damaging |
Het |
Cfap100 |
G |
A |
6: 90,386,328 (GRCm39) |
R276C |
|
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Creb3l2 |
A |
G |
6: 37,356,926 (GRCm39) |
V47A |
probably damaging |
Het |
Crebbp |
T |
A |
16: 3,933,654 (GRCm39) |
E1017D |
probably damaging |
Het |
Cttn |
T |
C |
7: 144,011,461 (GRCm39) |
D116G |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,079,070 (GRCm39) |
|
probably null |
Het |
Dcaf13 |
C |
T |
15: 38,982,178 (GRCm39) |
T48I |
possibly damaging |
Het |
Dsc2 |
T |
A |
18: 20,171,205 (GRCm39) |
D598V |
probably damaging |
Het |
Dtx3 |
G |
A |
10: 127,028,518 (GRCm39) |
T237I |
probably damaging |
Het |
E130308A19Rik |
A |
G |
4: 59,719,764 (GRCm39) |
E432G |
possibly damaging |
Het |
Eps15 |
G |
A |
4: 109,179,270 (GRCm39) |
V219I |
probably benign |
Het |
Ext1 |
A |
G |
15: 53,208,456 (GRCm39) |
S102P |
probably damaging |
Het |
Fam151a |
A |
T |
4: 106,604,894 (GRCm39) |
I419L |
possibly damaging |
Het |
Fam89a |
C |
T |
8: 125,478,436 (GRCm39) |
G38D |
probably damaging |
Het |
Fdx2 |
G |
T |
9: 20,984,717 (GRCm39) |
A29E |
probably benign |
Het |
Hhla1 |
G |
A |
15: 65,813,630 (GRCm39) |
T234I |
probably damaging |
Het |
Hspb6 |
G |
A |
7: 30,253,714 (GRCm39) |
V76M |
probably damaging |
Het |
Ighmbp2 |
C |
A |
19: 3,315,325 (GRCm39) |
K698N |
probably benign |
Het |
Invs |
A |
G |
4: 48,426,218 (GRCm39) |
I1002V |
probably damaging |
Het |
Itga8 |
A |
C |
2: 12,196,580 (GRCm39) |
F612L |
probably benign |
Het |
Kcnma1 |
G |
T |
14: 24,053,897 (GRCm39) |
F99L |
probably benign |
Het |
Klf11 |
A |
G |
12: 24,705,731 (GRCm39) |
Y395C |
probably damaging |
Het |
Kplce |
A |
T |
3: 92,776,283 (GRCm39) |
N133K |
probably benign |
Het |
Lama4 |
G |
A |
10: 38,923,944 (GRCm39) |
E451K |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,884 (GRCm39) |
Y342C |
probably damaging |
Het |
Lrrc18 |
A |
T |
14: 32,731,021 (GRCm39) |
M187L |
probably benign |
Het |
Luc7l3 |
A |
G |
11: 94,187,756 (GRCm39) |
S311P |
unknown |
Het |
Lypd3 |
T |
A |
7: 24,338,349 (GRCm39) |
S133R |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mug1 |
T |
A |
6: 121,859,699 (GRCm39) |
S1233T |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,857,463 (GRCm39) |
E1062D |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,221,098 (GRCm39) |
K942E |
probably damaging |
Het |
Nedd9 |
T |
C |
13: 41,469,941 (GRCm39) |
D404G |
probably damaging |
Het |
Nisch |
C |
A |
14: 30,895,625 (GRCm39) |
A1022S |
probably damaging |
Het |
Nkx3-1 |
A |
G |
14: 69,429,321 (GRCm39) |
D113G |
probably benign |
Het |
Or1ad6 |
T |
C |
11: 50,860,165 (GRCm39) |
F107L |
probably benign |
Het |
Or6c1b |
A |
T |
10: 129,272,929 (GRCm39) |
I83F |
probably damaging |
Het |
Or6c215 |
A |
G |
10: 129,637,497 (GRCm39) |
F299S |
probably benign |
Het |
Otub1 |
C |
T |
19: 7,176,813 (GRCm39) |
G181D |
probably damaging |
Het |
Palb2 |
T |
C |
7: 121,726,304 (GRCm39) |
H522R |
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,459 (GRCm39) |
D570V |
probably damaging |
Het |
Phyhd1 |
A |
G |
2: 30,171,070 (GRCm39) |
N271S |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,498,291 (GRCm39) |
Q50R |
probably benign |
Het |
Rfx2 |
C |
A |
17: 57,087,895 (GRCm39) |
V499L |
possibly damaging |
Het |
Sf3a2 |
A |
G |
10: 80,637,309 (GRCm39) |
N49S |
probably damaging |
Het |
Sft2d1 |
T |
G |
17: 8,545,812 (GRCm39) |
S156A |
probably benign |
Het |
Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
Slc25a33 |
T |
A |
4: 149,836,913 (GRCm39) |
T144S |
probably benign |
Het |
Slc7a13 |
A |
T |
4: 19,818,818 (GRCm39) |
K6M |
possibly damaging |
Het |
Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
Tfap2c |
G |
A |
2: 172,399,213 (GRCm39) |
D487N |
probably damaging |
Het |
Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
Thsd4 |
A |
G |
9: 59,890,026 (GRCm39) |
F857S |
probably damaging |
Het |
Tnfrsf4 |
A |
G |
4: 156,100,884 (GRCm39) |
I272V |
probably benign |
Het |
Trak1 |
C |
T |
9: 121,220,924 (GRCm39) |
R45C |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,756,320 (GRCm39) |
S1167P |
probably benign |
Het |
Ttc14 |
A |
T |
3: 33,855,537 (GRCm39) |
T161S |
probably benign |
Het |
Ttll1 |
A |
G |
15: 83,380,579 (GRCm39) |
V262A |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ufsp1 |
C |
A |
5: 137,293,545 (GRCm39) |
P165Q |
possibly damaging |
Het |
Usp19 |
T |
G |
9: 108,371,894 (GRCm39) |
L390R |
probably damaging |
Het |
Vegfc |
G |
T |
8: 54,634,338 (GRCm39) |
C339F |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,463,549 (GRCm39) |
N428K |
possibly damaging |
Het |
Wdr11 |
T |
G |
7: 129,210,647 (GRCm39) |
V517G |
probably damaging |
Het |
Xkr4 |
T |
A |
1: 3,286,519 (GRCm39) |
D557V |
probably benign |
Het |
Zan |
C |
A |
5: 137,379,119 (GRCm39) |
C5327F |
unknown |
Het |
Zfp770 |
A |
T |
2: 114,026,949 (GRCm39) |
N373K |
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 |
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 |
X0020:Sema5a
|
UTSW |
15 |
32,417,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATATTGGAAGCTGCCATTCAG -3'
(R):5'- TCAGTACTTAAAGGCTGCAAGC -3'
Sequencing Primer
(F):5'- TGCCATTCAGCTGCAGTG -3'
(R):5'- GCACACAGCTTTCCCAGTC -3'
|
Posted On |
2022-10-06 |