Incidental Mutation 'IGL02795:Sema4d'
ID |
359942 |
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 # |
IGL02795
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
51839565-51947783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 51857447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 595
(K595R)
|
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: K595R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000021900 Gene: ENSMUSG00000021451 AA Change: K595R
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: K595R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105666 Gene: ENSMUSG00000021451 AA Change: K595R
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: K595R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000105667 Gene: ENSMUSG00000021451 AA Change: K595R
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,327,907 (GRCm39) |
L1391P |
probably damaging |
Het |
Abcc3 |
G |
A |
11: 94,252,468 (GRCm39) |
|
probably benign |
Het |
Acvr1 |
A |
G |
2: 58,352,964 (GRCm39) |
I332T |
probably damaging |
Het |
Atp8a2 |
C |
T |
14: 60,271,191 (GRCm39) |
V247M |
probably damaging |
Het |
Btn1a1 |
T |
C |
13: 23,644,786 (GRCm39) |
|
probably null |
Het |
Btnl9 |
A |
T |
11: 49,065,694 (GRCm39) |
|
probably benign |
Het |
Dbx1 |
T |
A |
7: 49,286,325 (GRCm39) |
I47F |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,155,571 (GRCm39) |
Y393C |
probably damaging |
Het |
Dnaja3 |
A |
G |
16: 4,507,937 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,838,407 (GRCm39) |
S220G |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,877,390 (GRCm39) |
M451K |
probably benign |
Het |
Eml3 |
A |
G |
19: 8,911,142 (GRCm39) |
Y257C |
probably benign |
Het |
Fam3d |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
Fbxw19 |
C |
A |
9: 109,324,886 (GRCm39) |
M10I |
possibly damaging |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Galnt5 |
C |
A |
2: 57,917,883 (GRCm39) |
P707H |
probably damaging |
Het |
Gba2 |
G |
T |
4: 43,578,331 (GRCm39) |
P6Q |
probably damaging |
Het |
Gm13199 |
A |
G |
2: 5,867,484 (GRCm39) |
|
probably benign |
Het |
Gpr45 |
C |
T |
1: 43,071,653 (GRCm39) |
R99C |
possibly damaging |
Het |
Hecw1 |
G |
A |
13: 14,497,102 (GRCm39) |
S302L |
probably damaging |
Het |
Hrg |
T |
C |
16: 22,776,303 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,045,889 (GRCm39) |
|
probably null |
Het |
Lgr4 |
T |
C |
2: 109,838,555 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
C |
T |
12: 72,525,542 (GRCm39) |
T830M |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
Mms19 |
C |
T |
19: 41,940,845 (GRCm39) |
|
probably null |
Het |
Nectin1 |
A |
G |
9: 43,714,849 (GRCm39) |
S362G |
probably benign |
Het |
Nlrc3 |
G |
T |
16: 3,783,149 (GRCm39) |
H87N |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,831,755 (GRCm39) |
V228I |
probably benign |
Het |
Or2ah1 |
T |
A |
2: 85,653,856 (GRCm39) |
C180* |
probably null |
Het |
Or4b13 |
A |
G |
2: 90,082,906 (GRCm39) |
L142P |
probably damaging |
Het |
Or52a20 |
T |
A |
7: 103,366,090 (GRCm39) |
F96L |
probably benign |
Het |
Or5h17 |
G |
T |
16: 58,820,640 (GRCm39) |
L197F |
possibly damaging |
Het |
Pcsk1 |
G |
T |
13: 75,260,739 (GRCm39) |
G321C |
probably damaging |
Het |
Poglut3 |
A |
G |
9: 53,303,405 (GRCm39) |
D99G |
probably damaging |
Het |
Prrc2c |
G |
T |
1: 162,541,868 (GRCm39) |
P374T |
probably benign |
Het |
Rusc1 |
A |
T |
3: 88,999,257 (GRCm39) |
L175Q |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,610,076 (GRCm39) |
N4250S |
probably benign |
Het |
Scara5 |
A |
C |
14: 65,968,129 (GRCm39) |
N134T |
possibly damaging |
Het |
Serpinb6a |
A |
C |
13: 34,115,576 (GRCm39) |
L15R |
probably damaging |
Het |
Setdb1 |
A |
T |
3: 95,234,684 (GRCm39) |
N1006K |
probably damaging |
Het |
Slc18a2 |
G |
A |
19: 59,262,922 (GRCm39) |
|
probably benign |
Het |
Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
Slc25a27 |
T |
A |
17: 43,958,003 (GRCm39) |
Y269F |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,395,782 (GRCm39) |
D611V |
probably benign |
Het |
Spag6 |
G |
T |
2: 18,737,894 (GRCm39) |
V255F |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,123,223 (GRCm39) |
G698W |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,013,323 (GRCm39) |
L2839P |
probably damaging |
Het |
Tfb2m |
T |
C |
1: 179,373,524 (GRCm39) |
E58G |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,896,324 (GRCm39) |
E260D |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,065,560 (GRCm39) |
D493V |
probably damaging |
Het |
Vmn1r27 |
A |
G |
6: 58,192,287 (GRCm39) |
V189A |
possibly damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,305,539 (GRCm39) |
Q74R |
probably benign |
Het |
Vps25 |
A |
G |
11: 101,146,916 (GRCm39) |
Y64C |
probably damaging |
Het |
Xirp2 |
G |
A |
2: 67,339,480 (GRCm39) |
G574S |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,970,505 (GRCm39) |
E273G |
possibly 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 |
|
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 |
2015-12-18 |