Incidental Mutation 'R1161:H2-T24'
ID100431
Institutional Source Beutler Lab
Gene Symbol H2-T24
Ensembl Gene ENSMUSG00000053835
Gene Namehistocompatibility 2, T region locus 24
SynonymsH-2T24
MMRRC Submission 039234-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1161 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location36005695-36020560 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 36014996 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 234 (Y234*)
Ref Sequence ENSEMBL: ENSMUSP00000109389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113760] [ENSMUST00000174063]
Predicted Effect probably null
Transcript: ENSMUST00000113760
AA Change: Y234*
SMART Domains Protein: ENSMUSP00000109389
Gene: ENSMUSG00000053835
AA Change: Y234*

DomainStartEndE-ValueType
Pfam:MHC_I 18 204 3.2e-46 PFAM
IGc1 223 294 2.61e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Predicted Effect probably benign
Transcript: ENSMUST00000174063
SMART Domains Protein: ENSMUSP00000133476
Gene: ENSMUSG00000053835

DomainStartEndE-ValueType
Pfam:MHC_I 18 114 1.3e-23 PFAM
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.4%
  • 10x: 95.7%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl10 T G 3: 145,930,425 V26G probably damaging Het
C4b A G 17: 34,729,593 V1581A probably damaging Het
Camk1g T C 1: 193,348,354 D349G probably benign Het
Ccdc106 G A 7: 5,059,540 D11N possibly damaging Het
Ckap5 T G 2: 91,599,375 L1464R probably null Het
Def6 G A 17: 28,217,619 V86I probably benign Het
Dnm3 T A 1: 162,353,574 T179S probably benign Het
Dync1h1 G A 12: 110,636,509 E2195K probably benign Het
Eme1 G A 11: 94,645,542 R534C probably damaging Het
Fam160a1 A G 3: 85,672,468 I810T probably damaging Het
Fzd3 G A 14: 65,212,088 R514C probably damaging Het
Ifit1bl1 A G 19: 34,593,696 S454P possibly damaging Het
Ipcef1 T A 10: 6,980,288 probably null Het
Mmel1 C T 4: 154,895,214 R764C probably damaging Het
Olfr857 A G 9: 19,713,180 M118V probably damaging Het
Pde4c A G 8: 70,749,923 D592G possibly damaging Het
Prx T C 7: 27,519,677 F1340S probably damaging Het
Rgs7 T C 1: 175,079,455 T90A probably damaging Het
Scn11a C T 9: 119,755,057 W1497* probably null Het
Snrnp40 C G 4: 130,378,043 probably null Het
Srrm3 CAAGAAGAAGAAGAA CAAGAAGAAGAA 5: 135,854,392 probably benign Het
Svep1 T A 4: 58,069,416 Y2790F possibly damaging Het
Tmeff2 T C 1: 51,181,787 V307A probably damaging Het
Tmem38a T A 8: 72,579,970 F98I probably damaging Het
Trp73 A G 4: 154,081,323 probably null Het
Usp29 A G 7: 6,961,530 E124G probably damaging Het
Other mutations in H2-T24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:H2-T24 APN 17 36017236 splice site probably benign
IGL02268:H2-T24 APN 17 36017372 missense probably damaging 1.00
IGL02620:H2-T24 APN 17 36017291 missense probably damaging 1.00
IGL03192:H2-T24 APN 17 36015476 nonsense probably null
IGL03387:H2-T24 APN 17 36006779 missense unknown
R0131:H2-T24 UTSW 17 36014986 missense probably damaging 0.98
R0131:H2-T24 UTSW 17 36014986 missense probably damaging 0.98
R0132:H2-T24 UTSW 17 36014986 missense probably damaging 0.98
R0334:H2-T24 UTSW 17 36014880 missense possibly damaging 0.75
R0531:H2-T24 UTSW 17 36015571 missense probably benign
R0678:H2-T24 UTSW 17 36017441 missense probably damaging 1.00
R1310:H2-T24 UTSW 17 36014996 nonsense probably null
R1726:H2-T24 UTSW 17 36015621 missense probably benign 0.01
R3891:H2-T24 UTSW 17 36015438 missense possibly damaging 0.59
R3948:H2-T24 UTSW 17 36017372 missense probably damaging 1.00
R4106:H2-T24 UTSW 17 36017478 missense possibly damaging 0.65
R4182:H2-T24 UTSW 17 36015484 missense possibly damaging 0.81
R4229:H2-T24 UTSW 17 36014829 missense probably benign 0.06
R5220:H2-T24 UTSW 17 36014670 missense probably benign 0.12
R6257:H2-T24 UTSW 17 36014682 missense probably benign 0.01
R7081:H2-T24 UTSW 17 36017452 missense probably damaging 0.97
R7543:H2-T24 UTSW 17 36014851 missense possibly damaging 0.70
R7739:H2-T24 UTSW 17 36014591 missense probably benign 0.33
V8831:H2-T24 UTSW 17 36017324 missense probably damaging 0.96
Predicted Primers
Posted On2014-01-15