Incidental Mutation 'R0924:H2-T13'
ID 83118
Institutional Source Beutler Lab
Gene Symbol H2-T13
Ensembl Gene
Gene Name histocompatibility 2, T region locus 13
Synonyms blastocyst MHC, H-2T13, H2-Bl
MMRRC Submission 039071-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0924 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36391007-36395115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36394824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 33 (V33E)
Ref Sequence ENSEMBL: ENSMUSP00000134155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173080] [ENSMUST00000183560] [ENSMUST00000183999] [ENSMUST00000184502] [ENSMUST00000185167] [ENSMUST00000185087] [ENSMUST00000194244] [ENSMUST00000192532] [ENSMUST00000195838] [ENSMUST00000195833]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000173080
AA Change: V33E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: V33E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 1.6e-88 PFAM
IGc1 219 289 6.29e-19 SMART
transmembrane domain 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174067
AA Change: V33E

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133982
Gene: ENSMUSG00000073406
AA Change: V33E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 6.3e-87 PFAM
transmembrane domain 214 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183560
SMART Domains Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183999
SMART Domains Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406

DomainStartEndE-ValueType
low complexity region 6 14 N/A INTRINSIC
SCOP:d1dr9a2 21 36 4e-5 SMART
transmembrane domain 46 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184502
AA Change: V33E

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: V33E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 6.8e-89 PFAM
transmembrane domain 214 236 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184850
Predicted Effect unknown
Transcript: ENSMUST00000185167
AA Change: S24R
SMART Domains Protein: ENSMUSP00000139373
Gene: ENSMUSG00000073406
AA Change: S24R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185087
AA Change: V33E

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139166
Gene: ENSMUSG00000073406
AA Change: V33E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 113 5.2e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194244
AA Change: V33E

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: V33E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 118 2.9e-43 PFAM
IGc1 127 197 6.29e-19 SMART
transmembrane domain 213 235 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000192532
AA Change: V23E
SMART Domains Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: V23E

DomainStartEndE-ValueType
Pfam:MHC_I 12 190 1.4e-88 PFAM
IGc1 209 279 6.29e-19 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000195838
AA Change: V22E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: V22E

DomainStartEndE-ValueType
Pfam:MHC_I 12 189 1e-82 PFAM
IGc1 208 278 6.29e-19 SMART
transmembrane domain 294 316 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195833
AA Change: V22E

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: V22E

DomainStartEndE-ValueType
Pfam:MHC_I 12 107 1.8e-37 PFAM
IGc1 116 186 6.29e-19 SMART
transmembrane domain 202 224 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ajap1 T A 4: 153,470,929 (GRCm39) I293F probably damaging Het
Akap10 T C 11: 61,795,689 (GRCm39) probably benign Het
Aldh3b2 T C 19: 4,029,350 (GRCm39) V241A probably benign Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Atpaf1 T A 4: 115,652,635 (GRCm39) V12D probably damaging Het
Aurkb C A 11: 68,936,822 (GRCm39) Y12* probably null Het
Bicdl1 A G 5: 115,799,587 (GRCm39) probably benign Het
Bnc1 A T 7: 81,628,156 (GRCm39) probably benign Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Ccrl2 A G 9: 110,885,036 (GRCm39) V154A probably benign Het
Celsr3 C A 9: 108,723,224 (GRCm39) Q2831K possibly damaging Het
Cplane1 T C 15: 8,280,554 (GRCm39) probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Cwf19l2 T C 9: 3,441,047 (GRCm39) probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Dnah2 T C 11: 69,312,134 (GRCm39) H4393R probably damaging Het
Eif2b3 T A 4: 116,938,775 (GRCm39) V408D possibly damaging Het
Eml3 T C 19: 8,910,675 (GRCm39) probably null Het
Enpp2 T C 15: 54,770,355 (GRCm39) probably benign Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Gm14178 T A 11: 99,638,326 (GRCm39) T18S Het
H2bc12 G A 13: 22,220,210 (GRCm39) D52N probably damaging Het
H2-M11 A G 17: 36,860,106 (GRCm39) M324V probably benign Het
Hdac10 T C 15: 89,010,065 (GRCm39) T298A probably benign Het
Hepacam A C 9: 37,295,224 (GRCm39) probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Ifi27l2a A G 12: 103,408,639 (GRCm39) V68A probably damaging Het
Itga11 A G 9: 62,683,956 (GRCm39) E1079G probably benign Het
Krt6a T C 15: 101,599,235 (GRCm39) probably benign Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lrrtm2 G A 18: 35,346,808 (GRCm39) R165C probably damaging Het
Macf1 G T 4: 123,279,271 (GRCm39) A3910E probably damaging Het
Muc5ac A T 7: 141,361,252 (GRCm39) Y1521F possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Ncam1 A T 9: 49,473,476 (GRCm39) probably benign Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nf1 T G 11: 79,344,692 (GRCm39) W1260G probably damaging Het
Or3a1d T C 11: 74,237,624 (GRCm39) Y262C probably damaging Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Or6c76b A T 10: 129,692,515 (GRCm39) I43F probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pabpc4 C T 4: 123,188,458 (GRCm39) R356C possibly damaging Het
Pcbp2 T A 15: 102,398,197 (GRCm39) D182E probably damaging Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Rnf31 T C 14: 55,830,459 (GRCm39) probably benign Het
Robo3 T A 9: 37,340,778 (GRCm39) probably benign Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sema6a A G 18: 47,381,559 (GRCm39) L996P probably damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Sorl1 T A 9: 41,919,470 (GRCm39) probably benign Het
Sox1ot G T 8: 12,480,455 (GRCm39) noncoding transcript Het
Spsb3 A T 17: 25,110,358 (GRCm39) N395I probably damaging Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Srd5a2 G T 17: 74,331,516 (GRCm39) N160K probably damaging Het
Sting1 A G 18: 35,868,154 (GRCm39) probably null Het
Tmem132d G A 5: 128,061,503 (GRCm39) probably benign Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Vmn2r93 A G 17: 18,524,443 (GRCm39) T146A probably benign Het
Wdr19 A G 5: 65,413,782 (GRCm39) probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Zfp683 T C 4: 133,783,138 (GRCm39) Y201H probably benign Het
Other mutations in H2-T13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0396:H2-T13 UTSW 17 36,394,614 (GRCm39) missense possibly damaging 0.47
R0412:H2-T13 UTSW 17 36,392,413 (GRCm39) splice site probably benign
R1170:H2-T13 UTSW 17 36,391,983 (GRCm39) missense possibly damaging 0.66
R1211:H2-T13 UTSW 17 36,391,965 (GRCm39) missense probably damaging 1.00
R1902:H2-T13 UTSW 17 36,394,845 (GRCm39) missense probably damaging 1.00
R1913:H2-T13 UTSW 17 36,391,908 (GRCm39) missense probably damaging 0.99
R1992:H2-T13 UTSW 17 36,391,938 (GRCm39) missense probably damaging 0.98
R5538:H2-T13 UTSW 17 36,392,178 (GRCm39) missense probably benign 0.35
R6021:H2-T13 UTSW 17 36,392,166 (GRCm39) missense probably damaging 1.00
R7091:H2-T13 UTSW 17 36,394,833 (GRCm39) missense possibly damaging 0.94
R7200:H2-T13 UTSW 17 36,391,938 (GRCm39) missense possibly damaging 0.83
R7711:H2-T13 UTSW 17 36,394,770 (GRCm39) missense probably damaging 0.98
R8479:H2-T13 UTSW 17 36,395,111 (GRCm39) missense probably damaging 1.00
R9183:H2-T13 UTSW 17 36,392,382 (GRCm39) missense unknown
R9193:H2-T13 UTSW 17 36,391,956 (GRCm39) missense possibly damaging 0.46
R9375:H2-T13 UTSW 17 36,391,993 (GRCm39) missense possibly damaging 0.66
R9582:H2-T13 UTSW 17 36,392,375 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGTAGTGGATCAGGTTCCTCAGGC -3'
(R):5'- GTATTCCAAATGGGGCAATGGCG -3'

Sequencing Primer
(F):5'- GGCTCCATCCGAAACTCTG -3'
(R):5'- TGACTATGATCGAGACTCGC -3'
Posted On 2013-11-08