Incidental Mutation 'IGL03164:Sema4d'
ID |
411559 |
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 # |
IGL03164
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
51839565-51947783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51862958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 467
(F467L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105667
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021900]
[ENSMUST00000110039]
[ENSMUST00000110040]
[ENSMUST00000110042]
|
AlphaFold |
O09126 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021900
AA Change: F467L
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000021900 Gene: ENSMUSG00000021451 AA Change: F467L
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 |
possibly damaging
Transcript: ENSMUST00000110039
AA Change: F467L
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105666 Gene: ENSMUSG00000021451 AA Change: F467L
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 |
possibly damaging
Transcript: ENSMUST00000110040
AA Change: F467L
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105667 Gene: ENSMUSG00000021451 AA Change: F467L
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
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 |
IGL03068:Sema4d
|
APN |
13 |
51,862,922 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |