Incidental Mutation 'IGL03068:Sema4d'
| ID |
409787 |
| 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 # |
IGL03068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
51839565-51947783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51862922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 479
(S479P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021900]
[ENSMUST00000110039]
[ENSMUST00000110040]
[ENSMUST00000110042]
|
| AlphaFold |
O09126 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021900
AA Change: S479P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021900
Gene: ENSMUSG00000021451
AA Change: S479P
| 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: S479P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105666
Gene: ENSMUSG00000021451
AA Change: S479P
| 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: S479P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105667
Gene: ENSMUSG00000021451
AA Change: S479P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125511
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
A |
G |
4: 126,311,171 (GRCm39) |
L14P |
probably damaging |
Het |
| Ak2 |
G |
T |
4: 128,901,819 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,092,246 (GRCm39) |
Y311C |
probably damaging |
Het |
| Arl9 |
C |
A |
5: 77,155,225 (GRCm39) |
L119I |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,491,175 (GRCm39) |
H620R |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,826,682 (GRCm39) |
D381G |
probably benign |
Het |
| Cngb3 |
T |
C |
4: 19,375,246 (GRCm39) |
F292S |
possibly damaging |
Het |
| Comtd1 |
G |
A |
14: 21,897,711 (GRCm39) |
R203C |
probably damaging |
Het |
| Crmp1 |
G |
T |
5: 37,422,633 (GRCm39) |
A147S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,710,517 (GRCm39) |
H1586L |
possibly damaging |
Het |
| Ctnna1 |
G |
A |
18: 35,382,785 (GRCm39) |
E644K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,841,958 (GRCm39) |
D957G |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eefsec |
G |
T |
6: 88,235,209 (GRCm39) |
Q576K |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,994,927 (GRCm39) |
I1215L |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,394,766 (GRCm39) |
D160E |
probably benign |
Het |
| Exoc7 |
G |
A |
11: 116,191,960 (GRCm39) |
R197C |
possibly damaging |
Het |
| G6pc1 |
A |
G |
11: 101,261,576 (GRCm39) |
D92G |
probably benign |
Het |
| Gm3182 |
T |
A |
14: 4,483,921 (GRCm38) |
|
probably null |
Het |
| Gm4952 |
A |
G |
19: 12,601,068 (GRCm39) |
N96S |
probably damaging |
Het |
| Gpr156 |
G |
A |
16: 37,812,491 (GRCm39) |
V276M |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,054,974 (GRCm39) |
S1153P |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,086,093 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,112,928 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
G |
T |
18: 74,103,415 (GRCm39) |
N31K |
probably damaging |
Het |
| Mccc2 |
T |
C |
13: 100,100,319 (GRCm39) |
T357A |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,570 (GRCm39) |
T343A |
probably benign |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Pald1 |
T |
C |
10: 61,156,963 (GRCm39) |
E829G |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 75,848,208 (GRCm39) |
I873T |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,348 (GRCm39) |
K638* |
probably null |
Het |
| Slc12a2 |
T |
C |
18: 58,037,407 (GRCm39) |
|
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,194,769 (GRCm39) |
N470S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,987,521 (GRCm39) |
P1604S |
probably benign |
Het |
| Taf8 |
C |
A |
17: 47,812,290 (GRCm39) |
V39L |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,941 (GRCm39) |
E309G |
probably benign |
Het |
| Tmem260 |
A |
G |
14: 48,724,371 (GRCm39) |
|
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,571,270 (GRCm39) |
K816M |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,180 (GRCm39) |
I354V |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,386,158 (GRCm39) |
N665Y |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,041 (GRCm39) |
T971A |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,803,137 (GRCm39) |
I349N |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,646,143 (GRCm39) |
T504A |
probably benign |
Het |
| Ythdf3 |
T |
A |
3: 16,258,882 (GRCm39) |
V354E |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,474,677 (GRCm39) |
G13V |
probably damaging |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation