Incidental Mutation 'IGL01088:H2-T22'
ID53040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-T22
Ensembl Gene ENSMUSG00000056116
Gene Namehistocompatibility 2, T region locus 22
SynonymsH-2T22, H-2T17, H2-T17
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01088
Quality Score
Status
Chromosome17
Chromosomal Location36037128-36042747 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36041919 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 99 (S99P)
Ref Sequence ENSEMBL: ENSMUSP00000078927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058801] [ENSMUST00000077960] [ENSMUST00000080015] [ENSMUST00000097331] [ENSMUST00000173280]
Predicted Effect probably damaging
Transcript: ENSMUST00000058801
AA Change: S99P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
AA Change: S99P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 5.8e-47 PFAM
IGc1 210 281 2.06e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077960
AA Change: S99P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: S99P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 4e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080015
AA Change: S99P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: S99P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 7.3e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097331
SMART Domains Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172633
Predicted Effect probably benign
Transcript: ENSMUST00000173280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,725,841 V148I probably damaging Het
Aspn G T 13: 49,566,553 K348N probably benign Het
C1qtnf9 T C 14: 60,779,756 V245A probably benign Het
Chd4 T C 6: 125,122,468 probably benign Het
Clcn3 A T 8: 60,937,347 C187S probably damaging Het
Dcxr T C 11: 120,726,167 I123M possibly damaging Het
Fstl1 T C 16: 37,826,813 Y182H probably damaging Het
Ghrhr T C 6: 55,379,193 probably null Het
Gm4788 T C 1: 139,698,085 probably benign Het
Gpr179 T C 11: 97,337,801 E1176G probably damaging Het
Igkv4-79 T A 6: 69,043,126 K68N probably damaging Het
Kpna6 C T 4: 129,655,483 V169I probably damaging Het
Krit1 G T 5: 3,812,844 V278F probably damaging Het
Mrpl4 T C 9: 21,003,331 S68P probably damaging Het
Mylk3 A C 8: 85,351,957 probably null Het
Nfasc A T 1: 132,642,776 probably benign Het
Ntsr1 T C 2: 180,542,542 F346S probably damaging Het
Olfr1333 A G 4: 118,829,792 V216A probably benign Het
Olfr1461 T C 19: 13,165,371 M119T probably damaging Het
Phox2a T C 7: 101,821,735 F145L probably damaging Het
Rbm7 A G 9: 48,490,849 V146A probably damaging Het
Sall3 A T 18: 80,973,232 Y494N probably damaging Het
Ssbp1 T A 6: 40,478,070 probably benign Het
Stard7 T C 2: 127,270,826 L4P probably damaging Het
Stk-ps2 A T 1: 46,029,850 noncoding transcript Het
Tmem67 G A 4: 12,063,126 R507C probably damaging Het
Unc13c A T 9: 73,932,281 D429E possibly damaging Het
Unc93b1 A G 19: 3,935,356 probably null Het
Vmn1r171 T C 7: 23,632,827 V159A probably damaging Het
Zfp608 T C 18: 54,898,087 E927G probably benign Het
Zfp820 T A 17: 21,821,181 K16* probably null Het
Zgrf1 T C 3: 127,588,141 probably benign Het
Other mutations in H2-T22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02978:H2-T22 APN 17 36041625 missense probably benign 0.00
R0078:H2-T22 UTSW 17 36040609 missense probably damaging 0.99
R0448:H2-T22 UTSW 17 36042386 missense possibly damaging 0.96
R1402:H2-T22 UTSW 17 36040269 missense possibly damaging 0.95
R1402:H2-T22 UTSW 17 36040269 missense possibly damaging 0.95
R1592:H2-T22 UTSW 17 36041577 missense probably damaging 0.99
R1830:H2-T22 UTSW 17 36041542 missense probably benign 0.00
R2105:H2-T22 UTSW 17 36040517 missense probably benign 0.23
R2116:H2-T22 UTSW 17 36039057 splice site probably null
R2964:H2-T22 UTSW 17 36040645 missense probably damaging 1.00
R2965:H2-T22 UTSW 17 36040645 missense probably damaging 1.00
R3425:H2-T22 UTSW 17 36041580 missense probably damaging 1.00
R3875:H2-T22 UTSW 17 36040303 missense probably benign 0.03
R4614:H2-T22 UTSW 17 36040537 missense probably benign 0.28
R4691:H2-T22 UTSW 17 36041570 frame shift probably null
R4870:H2-T22 UTSW 17 36039032 missense probably benign 0.00
R4954:H2-T22 UTSW 17 36041959 missense probably damaging 1.00
R5109:H2-T22 UTSW 17 36039221 nonsense probably null
R5995:H2-T22 UTSW 17 36041485 missense probably benign 0.18
Z1088:H2-T22 UTSW 17 36041638 missense probably benign 0.00
Posted On2013-06-21