Incidental Mutation 'IGL00233:Gm43638'
ID306837
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 #IGL00233
Quality Score
Status
Chromosome5
Chromosomal Location87460240-87486806 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87460399 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 527 (R527H)
Ref Sequence ENSEMBL: ENSMUSP00000114583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079811
AA Change: R527H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: R527H

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 possibly damaging
Transcript: ENSMUST00000144144
AA Change: R279H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268
AA Change: R279H

DomainStartEndE-ValueType
Pfam:UDPGT 1 277 2.3e-168 PFAM
Pfam:Glyco_tran_28_C 100 203 7.4e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147854
AA Change: R527H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: R527H

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 probably damaging
Transcript: ENSMUST00000201519
AA Change: R693H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: R693H

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm3238 C T 10: 77,771,292 probably benign Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Gm43638
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02684:Gm43638 APN 5 87462910 missense possibly damaging 0.51
IGL03343:Gm43638 APN 5 87460625 missense possibly damaging 0.85
R0233:Gm43638 UTSW 5 87475001 missense probably damaging 1.00
Posted On2015-04-16