Incidental Mutation 'IGL02329:H2-M10.4'
ID288587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-M10.4
Ensembl Gene ENSMUSG00000048231
Gene Namehistocompatibility 2, M region locus 10.4
Synonyms15H
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02329
Quality Score
Status
Chromosome17
Chromosomal Location36458917-36462334 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36460467 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 273 (V273D)
Ref Sequence ENSEMBL: ENSMUSP00000130832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057502] [ENSMUST00000169950]
Predicted Effect probably damaging
Transcript: ENSMUST00000057502
AA Change: V273D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058686
Gene: ENSMUSG00000048231
AA Change: V273D

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 5.7e-45 PFAM
IGc1 222 293 7.45e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169950
AA Change: V273D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130832
Gene: ENSMUSG00000048231
AA Change: V273D

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 8.2e-45 PFAM
IGc1 222 293 7.45e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Ccdc169 A G 3: 55,171,281 M188V probably benign Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpeb4 T C 11: 31,872,316 V10A possibly damaging Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Drc3 T C 11: 60,370,578 L185P probably damaging Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Meig1 T C 2: 3,409,251 K71E probably damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Tiam1 G T 16: 89,800,036 H301N probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R possibly damaging Het
Other mutations in H2-M10.4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02651:H2-M10.4 APN 17 36460656 missense probably benign 0.10
IGL02821:H2-M10.4 APN 17 36460431 missense probably damaging 1.00
IGL03123:H2-M10.4 APN 17 36461920 missense probably damaging 0.99
IGL03171:H2-M10.4 APN 17 36461250 missense probably damaging 0.98
R0206:H2-M10.4 UTSW 17 36460483 missense probably damaging 1.00
R0208:H2-M10.4 UTSW 17 36460483 missense probably damaging 1.00
R3979:H2-M10.4 UTSW 17 36461985 missense probably benign 0.23
R4535:H2-M10.4 UTSW 17 36461844 missense probably damaging 0.97
R4685:H2-M10.4 UTSW 17 36461796 missense probably benign 0.23
R4702:H2-M10.4 UTSW 17 36461982 missense probably benign 0.25
R5390:H2-M10.4 UTSW 17 36460641 missense probably damaging 1.00
R5945:H2-M10.4 UTSW 17 36460626 missense probably benign 0.01
R8135:H2-M10.4 UTSW 17 36461770 missense probably benign
R8956:H2-M10.4 UTSW 17 36461353 missense probably benign 0.08
Posted On2015-04-16