Incidental Mutation 'IGL02131:Sema4d'
| ID |
281203 |
| 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 # |
IGL02131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
51839565-51947783 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 51856973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021900]
[ENSMUST00000110039]
[ENSMUST00000110040]
[ENSMUST00000110042]
|
| AlphaFold |
O09126 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021900
AA Change: N753S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021900
Gene: ENSMUSG00000021451
AA Change: N753S
| 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 damaging
Transcript: ENSMUST00000110039
AA Change: N753S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105666
Gene: ENSMUSG00000021451
AA Change: N753S
| 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 damaging
Transcript: ENSMUST00000110040
AA Change: N753S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105667
Gene: ENSMUSG00000021451
AA Change: N753S
| 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 null
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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
| Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
| Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
| Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
| Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
| Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
| Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
| Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
| Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
Het |
|
| Other mutations in Sema4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02155:Sema4d
|
APN |
13 |
51,857,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
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