Incidental Mutation 'IGL02155:Sema4d'
| ID |
282196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sema4d
|
| Ensembl Gene |
ENSMUSG00000021451 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D |
| Synonyms |
Semacl2, Semcl2, Semaj, M-sema G, coll-4, CD100, semaphorin H |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
51839565-51947783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51857303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 643
(V643A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021900]
[ENSMUST00000110039]
[ENSMUST00000110040]
[ENSMUST00000110042]
|
| AlphaFold |
O09126 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021900
AA Change: V643A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000021900
Gene: ENSMUSG00000021451
AA Change: V643A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Sema
|
50 |
482 |
7.68e-192 |
SMART |
|
PSI
|
502 |
554 |
1.41e-12 |
SMART |
|
IG
|
561 |
647 |
4.78e-1 |
SMART |
|
transmembrane domain
|
733 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110039
AA Change: V643A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105666
Gene: ENSMUSG00000021451
AA Change: V643A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Sema
|
50 |
482 |
7.68e-192 |
SMART |
|
PSI
|
502 |
554 |
1.41e-12 |
SMART |
|
IG
|
561 |
647 |
4.78e-1 |
SMART |
|
transmembrane domain
|
733 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110040
AA Change: V643A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105667
Gene: ENSMUSG00000021451
AA Change: V643A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Sema
|
50 |
482 |
7.68e-192 |
SMART |
|
PSI
|
502 |
554 |
1.41e-12 |
SMART |
|
IG
|
561 |
647 |
4.78e-1 |
SMART |
|
transmembrane domain
|
733 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110042
|
| SMART Domains |
Protein: ENSMUSP00000105669
Gene: ENSMUSG00000021451
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
2 |
46 |
2e-15 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display functional defects in their immune system but are normal in other systems of the body. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,583,350 (GRCm39) |
H302R |
probably null |
Het |
| Abi3bp |
A |
T |
16: 56,408,327 (GRCm39) |
H254L |
probably damaging |
Het |
| Adcy3 |
G |
A |
12: 4,262,142 (GRCm39) |
W1064* |
probably null |
Het |
| Arvcf |
C |
T |
16: 18,222,650 (GRCm39) |
P70S |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,050,250 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,542,471 (GRCm39) |
F491Y |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,622,285 (GRCm39) |
R1006C |
probably damaging |
Het |
| Dnajc22 |
T |
C |
15: 98,998,886 (GRCm39) |
Y24H |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,153,245 (GRCm39) |
F3656L |
probably benign |
Het |
| Fbxo31 |
A |
G |
8: 122,285,814 (GRCm39) |
F212S |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,828,696 (GRCm39) |
M6831T |
probably benign |
Het |
| Gpi1 |
G |
T |
7: 33,929,614 (GRCm39) |
Q9K |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,439,349 (GRCm39) |
S5495C |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,567,488 (GRCm39) |
I394V |
probably benign |
Het |
| Kcnh5 |
G |
A |
12: 75,223,312 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,284,047 (GRCm39) |
D745G |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mlxip |
T |
C |
5: 123,591,455 (GRCm39) |
M878T |
probably benign |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,292 (GRCm39) |
Y103C |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,045,806 (GRCm39) |
I1657T |
probably damaging |
Het |
| Or5m11 |
T |
A |
2: 85,782,352 (GRCm39) |
M315K |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,189,888 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
C |
T |
1: 143,637,007 (GRCm39) |
|
probably null |
Het |
| Taf7 |
A |
T |
18: 37,776,564 (GRCm39) |
M1K |
probably null |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,380 (GRCm39) |
D147V |
possibly damaging |
Het |
| Usp45 |
T |
A |
4: 21,798,743 (GRCm39) |
|
probably null |
Het |
| Wdr62 |
T |
C |
7: 29,962,068 (GRCm39) |
D2G |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,743,340 (GRCm39) |
I50F |
probably benign |
Het |
|
| Other mutations in Sema4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02131:Sema4d
|
APN |
13 |
51,856,973 (GRCm39) |
splice site |
probably null |
|
|
IGL02422:Sema4d
|
APN |
13 |
51,857,124 (GRCm39) |
missense |
probably benign |
|
|
IGL02795:Sema4d
|
APN |
13 |
51,857,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03068:Sema4d
|
APN |
13 |
51,862,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03164:Sema4d
|
APN |
13 |
51,862,958 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0060:Sema4d
|
UTSW |
13 |
51,859,293 (GRCm39) |
unclassified |
probably benign |
|
|
R0060:Sema4d
|
UTSW |
13 |
51,859,293 (GRCm39) |
unclassified |
probably benign |
|
|
R0305:Sema4d
|
UTSW |
13 |
51,866,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Sema4d
|
UTSW |
13 |
51,879,347 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0708:Sema4d
|
UTSW |
13 |
51,866,755 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1809:Sema4d
|
UTSW |
13 |
51,867,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1851:Sema4d
|
UTSW |
13 |
51,865,258 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2096:Sema4d
|
UTSW |
13 |
51,864,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Sema4d
|
UTSW |
13 |
51,874,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Sema4d
|
UTSW |
13 |
51,857,176 (GRCm39) |
intron |
probably benign |
|
|
R4329:Sema4d
|
UTSW |
13 |
51,857,340 (GRCm39) |
missense |
probably benign |
|
|
R4372:Sema4d
|
UTSW |
13 |
51,866,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Sema4d
|
UTSW |
13 |
51,856,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Sema4d
|
UTSW |
13 |
51,877,654 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4980:Sema4d
|
UTSW |
13 |
51,865,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Sema4d
|
UTSW |
13 |
51,865,390 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6086:Sema4d
|
UTSW |
13 |
51,867,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Sema4d
|
UTSW |
13 |
51,856,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7340:Sema4d
|
UTSW |
13 |
51,877,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Sema4d
|
UTSW |
13 |
51,877,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Sema4d
|
UTSW |
13 |
51,876,387 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8193:Sema4d
|
UTSW |
13 |
51,859,192 (GRCm39) |
nonsense |
probably null |
|
|
R8703:Sema4d
|
UTSW |
13 |
51,854,959 (GRCm39) |
missense |
|
|
|
R8796:Sema4d
|
UTSW |
13 |
51,865,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Sema4d
|
UTSW |
13 |
51,863,018 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8904:Sema4d
|
UTSW |
13 |
51,854,935 (GRCm39) |
nonsense |
probably null |
|
|
R9016:Sema4d
|
UTSW |
13 |
51,867,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9115:Sema4d
|
UTSW |
13 |
51,877,596 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Sema4d
|
UTSW |
13 |
51,857,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation