Incidental Mutation 'R7880:Sema5a'
| ID |
608714 |
| 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 |
045932-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32686954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1022
(I1022N)
|
| 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: I1022N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: I1022N
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,511,691 (GRCm39) |
D703V |
possibly damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Akap13 |
A |
G |
7: 75,235,964 (GRCm39) |
T180A |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,423,087 (GRCm39) |
A993V |
probably benign |
Het |
| Asxl3 |
C |
T |
18: 22,655,208 (GRCm39) |
P1073S |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,020,434 (GRCm39) |
S286A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,326,116 (GRCm39) |
S1078F |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,182 (GRCm39) |
L799P |
probably benign |
Het |
| Chst13 |
C |
T |
6: 90,302,062 (GRCm39) |
R28H |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,130,308 (GRCm39) |
C390* |
probably null |
Het |
| Crabp1 |
C |
A |
9: 54,672,942 (GRCm39) |
C82* |
probably null |
Het |
| Cyp2b23 |
A |
C |
7: 26,372,559 (GRCm39) |
V352G |
probably damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,577,081 (GRCm39) |
V179E |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,012,702 (GRCm39) |
D839G |
possibly damaging |
Het |
| Espnl |
A |
T |
1: 91,272,488 (GRCm39) |
E616V |
possibly damaging |
Het |
| Fam50b |
C |
A |
13: 34,930,802 (GRCm39) |
Q93K |
probably benign |
Het |
| Focad |
C |
T |
4: 88,319,407 (GRCm39) |
R1539C |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,011,163 (GRCm39) |
I428L |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gramd1c |
C |
G |
16: 43,812,439 (GRCm39) |
A193P |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,939 (GRCm39) |
H54R |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,194,712 (GRCm39) |
I902F |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,761 (GRCm39) |
H210L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,539,879 (GRCm39) |
S280P |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,506 (GRCm39) |
R4827L |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,884,819 (GRCm39) |
C46R |
probably damaging |
Het |
| Kansl1 |
G |
T |
11: 104,314,979 (GRCm39) |
A353D |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,222,290 (GRCm39) |
Y311C |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,006,778 (GRCm39) |
I24T |
possibly damaging |
Het |
| Lpcat4 |
C |
A |
2: 112,070,376 (GRCm39) |
H30N |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,461,143 (GRCm39) |
I590V |
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,703,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Nsun6 |
A |
C |
2: 15,001,190 (GRCm39) |
C455W |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,434 (GRCm39) |
C134* |
probably null |
Het |
| Or4c3 |
A |
T |
2: 89,852,381 (GRCm39) |
F10I |
probably damaging |
Het |
| Or5ak22 |
G |
T |
2: 85,230,379 (GRCm39) |
S166Y |
possibly damaging |
Het |
| Or7g19 |
T |
G |
9: 18,856,024 (GRCm39) |
L27V |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,031,873 (GRCm39) |
I162T |
probably benign |
Het |
| Pex13 |
A |
T |
11: 23,599,369 (GRCm39) |
S381T |
probably benign |
Het |
| Ppil1 |
G |
A |
17: 29,480,762 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,155 (GRCm39) |
I766V |
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,422,159 (GRCm39) |
V187M |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,191,132 (GRCm39) |
T953A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,393 (GRCm39) |
R235G |
probably benign |
Het |
| Stx5a |
G |
A |
19: 8,719,692 (GRCm39) |
G19D |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,577,726 (GRCm39) |
R532* |
probably null |
Het |
| Tmpo |
T |
A |
10: 91,001,892 (GRCm39) |
K106* |
probably null |
Het |
| Trnt1 |
T |
C |
6: 106,746,517 (GRCm39) |
|
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,996,672 (GRCm39) |
I282N |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,907,684 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,468,718 (GRCm39) |
I51V |
unknown |
Het |
| Zfp787 |
A |
G |
7: 6,135,190 (GRCm39) |
F354L |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,794,332 (GRCm39) |
V111A |
probably benign |
Het |
| Zwint |
G |
T |
10: 72,492,924 (GRCm39) |
R182L |
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 |
|
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'- TGGCCCTATTCCACAGAGTTC -3'
(R):5'- CCTACACTGTTTGTACTCACCAAAG -3'
Sequencing Primer
(F):5'- ATTCCACAGAGTTCAACATGTTCC -3'
(R):5'- TTTGTACTCACCAAAGAATATCCAGC -3'
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| Posted On |
2019-12-20 |
Incidental Mutation