Incidental Mutation 'R6897:Sema5a'
| ID |
538420 |
| 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 |
044991-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
32244959-32696487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32550421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 153
(D153E)
|
| 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: D153E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000069024
Gene: ENSMUSG00000022231
AA Change: D153E
| 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: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,534 (GRCm39) |
I28V |
possibly damaging |
Het |
| Adamts2 |
A |
T |
11: 50,627,991 (GRCm39) |
|
probably null |
Het |
| Adgrg1 |
T |
C |
8: 95,729,126 (GRCm39) |
F17L |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,539,789 (GRCm39) |
L183P |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,656,063 (GRCm39) |
C270R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,720,160 (GRCm39) |
|
probably null |
Het |
| Armc2 |
C |
A |
10: 41,869,225 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
G |
19: 58,030,800 (GRCm39) |
N1314S |
probably benign |
Het |
| Bbs7 |
T |
A |
3: 36,652,460 (GRCm39) |
E331V |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,285,225 (GRCm39) |
V258E |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,939,139 (GRCm39) |
I671F |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,920,376 (GRCm39) |
S508P |
probably damaging |
Het |
| Cd177 |
C |
T |
7: 24,444,499 (GRCm39) |
R694H |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,369,751 (GRCm39) |
Q386H |
possibly damaging |
Het |
| Cnrip1 |
A |
G |
11: 17,004,705 (GRCm39) |
Y85C |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,739,070 (GRCm39) |
F310I |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,984,562 (GRCm39) |
K186R |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 49,996,124 (GRCm39) |
Q417K |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,740,220 (GRCm39) |
D67G |
possibly damaging |
Het |
| Elovl4 |
T |
C |
9: 83,665,278 (GRCm39) |
I103V |
probably benign |
Het |
| Gabpa |
C |
G |
16: 84,657,361 (GRCm39) |
A412G |
probably benign |
Het |
| Gldn |
T |
A |
9: 54,242,158 (GRCm39) |
|
probably null |
Het |
| Ino80d |
A |
T |
1: 63,104,993 (GRCm39) |
I361N |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,796,073 (GRCm39) |
T1234M |
probably damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,028,026 (GRCm39) |
M367K |
probably benign |
Het |
| Klrd1 |
G |
A |
6: 129,570,468 (GRCm39) |
R8Q |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,758,942 (GRCm39) |
N969S |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,768,315 (GRCm39) |
D438G |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,039,840 (GRCm39) |
L684P |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,340,846 (GRCm39) |
M1010V |
probably benign |
Het |
| Magi3 |
C |
A |
3: 103,996,873 (GRCm39) |
R224I |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,380,573 (GRCm39) |
N277S |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,171,112 (GRCm39) |
H17R |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,749,878 (GRCm39) |
S265T |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,805,700 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,024 (GRCm39) |
T246I |
possibly damaging |
Het |
| Palb2 |
A |
G |
7: 121,726,270 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,385,951 (GRCm39) |
V940M |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,598,138 (GRCm39) |
K850E |
probably damaging |
Het |
| Pitx1 |
G |
A |
13: 55,976,335 (GRCm39) |
T108M |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
| Pomp |
T |
A |
5: 147,812,313 (GRCm39) |
M133K |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,423,913 (GRCm39) |
E993G |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,075 (GRCm39) |
|
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,007,917 (GRCm39) |
Q879H |
probably damaging |
Het |
| Rab26 |
G |
A |
17: 24,748,766 (GRCm39) |
T245I |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,592,514 (GRCm39) |
D502G |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
C |
G |
11: 77,844,385 (GRCm39) |
H69Q |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,893,095 (GRCm39) |
T391S |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,234,670 (GRCm39) |
V151A |
possibly damaging |
Het |
| Socs1 |
G |
T |
16: 10,602,266 (GRCm39) |
A157E |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,566,145 (GRCm39) |
Q110L |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,071,375 (GRCm39) |
V346L |
possibly damaging |
Het |
| Srgap1 |
T |
A |
10: 121,621,523 (GRCm39) |
H990L |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,892,809 (GRCm39) |
G36W |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,395,782 (GRCm39) |
E437G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,481,743 (GRCm39) |
L203P |
probably damaging |
Het |
| Tspoap1 |
A |
T |
11: 87,656,638 (GRCm39) |
K283M |
probably damaging |
Het |
| Ttyh1 |
C |
T |
7: 4,127,649 (GRCm39) |
|
probably benign |
Het |
| Ufd1 |
T |
A |
16: 18,645,850 (GRCm39) |
I254N |
probably benign |
Het |
| Ugdh |
T |
G |
5: 65,584,776 (GRCm39) |
T49P |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,434,810 (GRCm39) |
L447P |
probably damaging |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,445 (GRCm39) |
K43* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,306,015 (GRCm39) |
I521T |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,991,932 (GRCm39) |
T3470A |
probably benign |
Het |
| Wdhd1 |
T |
A |
14: 47,485,587 (GRCm39) |
K791N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,338,911 (GRCm39) |
D384G |
probably damaging |
Het |
| Zfp512b |
C |
T |
2: 181,232,273 (GRCm39) |
R86Q |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,880 (GRCm39) |
I275L |
probably benign |
Het |
| Zfp957 |
A |
T |
14: 79,451,344 (GRCm39) |
S152T |
probably damaging |
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 |
|
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'- AGGAAGGATTCTCTGGCCAAG -3'
(R):5'- CATTGAGCCATTTGGAGTTGTACTG -3'
Sequencing Primer
(F):5'- CTCTGGCCAAGATTATAGAGAACTG -3'
(R):5'- TACTGTGCAGTTCGAAGAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation