Incidental Mutation 'IGL02684:Gm43638'
List |< first << previous [record 12 of 33] next >> last >|
ID303486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm43638
Ensembl Gene ENSMUSG00000107180
Gene Namepredicted gene 43638
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02684
Quality Score
Status
Chromosome5
Chromosomal Location87460240-87486806 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87462910 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 522 (I522V)
Ref Sequence ENSEMBL: ENSMUSP00000143986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]
Predicted Effect probably benign
Transcript: ENSMUST00000079811
AA Change: I356V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: I356V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:UDPGT 22 525 3.5e-233 PFAM
Pfam:Glyco_tran_28_C 332 453 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144144
AA Change: I108V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268
AA Change: I108V

DomainStartEndE-ValueType
Pfam:UDPGT 1 277 2.3e-168 PFAM
Pfam:Glyco_tran_28_C 100 203 7.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147854
AA Change: I356V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: I356V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDPGT 21 525 1.2e-235 PFAM
Pfam:Glyco_tran_28_C 332 453 1.4e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000201519
AA Change: I522V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: I522V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDPGT 21 240 2.3e-54 PFAM
Pfam:UDPGT 236 499 2.9e-75 PFAM
Pfam:UDPGT 498 691 2.6e-116 PFAM
Pfam:Glyco_tran_28_C 512 618 3.1e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Ankrd34b T C 13: 92,438,508 S83P probably damaging Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Blk T C 14: 63,379,694 E288G probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fam84a T C 12: 14,150,645 D27G probably damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Hoxd12 A G 2: 74,675,561 S159G probably benign Het
Ints7 A G 1: 191,613,637 probably null Het
Iqsec3 G A 6: 121,412,941 Q524* probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Pm20d1 T A 1: 131,804,959 N345K probably benign Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably damaging Het
Other mutations in Gm43638
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Gm43638 APN 5 87460399 missense probably damaging 0.98
IGL01015:Gm43638 APN 5 87486614 nonsense probably null
IGL01081:Gm43638 APN 5 87486596 missense probably damaging 1.00
IGL01296:Gm43638 APN 5 87460592 missense probably benign 0.22
IGL01449:Gm43638 APN 5 87486215 missense possibly damaging 0.95
IGL01767:Gm43638 APN 5 87465431 missense probably damaging 1.00
IGL02412:Gm43638 APN 5 87486136 missense possibly damaging 0.95
IGL03343:Gm43638 APN 5 87460625 missense possibly damaging 0.85
R0233:Gm43638 UTSW 5 87475001 missense probably damaging 1.00
Posted On2015-04-16