Incidental Mutation 'R1992:H2-T13'
ID 223760
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 040003-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1992 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 36391007-36395115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36391938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 216 (I216S)
Ref Sequence ENSEMBL: ENSMUSP00000141271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173080] [ENSMUST00000183560] [ENSMUST00000183999] [ENSMUST00000184502] [ENSMUST00000194244] [ENSMUST00000195833] [ENSMUST00000192532] [ENSMUST00000195838] [ENSMUST00000185167] [ENSMUST00000185087]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000173080
AA Change: I319S

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: I319S

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: I227S

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133982
Gene: ENSMUSG00000073406
AA Change: I227S

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 possibly damaging
Transcript: ENSMUST00000183560
AA Change: I45S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406
AA Change: I45S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183999
AA Change: I59S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: I59S

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: I227S

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: I227S

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 probably benign
Transcript: ENSMUST00000194244
AA Change: I227S

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: I227S

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 probably damaging
Transcript: ENSMUST00000195833
AA Change: I216S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: I216S

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
Predicted Effect probably benign
Transcript: ENSMUST00000192532
AA Change: I309S

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: I309S

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 possibly damaging
Transcript: ENSMUST00000195838
AA Change: I308S

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: I308S

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 probably benign
Transcript: ENSMUST00000185167
SMART Domains Protein: ENSMUSP00000139373
Gene: ENSMUSG00000073406

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185087
SMART Domains Protein: ENSMUSP00000139166
Gene: ENSMUSG00000073406

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 113 5.2e-44 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T C 1: 138,781,380 (GRCm39) T90A probably damaging Het
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abcc2 A T 19: 43,795,581 (GRCm39) I446F probably damaging Het
Adam34l T C 8: 44,080,176 (GRCm39) K16R probably benign Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrl2 A G 3: 148,522,880 (GRCm39) I217T possibly damaging Het
Afap1l1 A T 18: 61,874,842 (GRCm39) Y446* probably null Het
Aimp2 G A 5: 143,843,548 (GRCm39) A14V probably damaging Het
Akap8 G A 17: 32,535,586 (GRCm39) H143Y probably damaging Het
Aldh2 A T 5: 121,714,026 (GRCm39) V207E possibly damaging Het
Aoc1l2 T A 6: 48,907,703 (GRCm39) H234Q probably damaging Het
Armc3 T C 2: 19,297,953 (GRCm39) Y575H probably damaging Het
Arpp21 T C 9: 111,986,861 (GRCm39) E230G probably damaging Het
Arrdc3 G A 13: 81,031,808 (GRCm39) D14N probably damaging Het
Atn1 A G 6: 124,722,291 (GRCm39) probably benign Het
Atxn7l1 G A 12: 33,408,743 (GRCm39) D302N probably damaging Het
Bbs1 T A 19: 4,941,736 (GRCm39) H518L probably benign Het
Bltp1 A T 3: 37,054,181 (GRCm39) H3100L probably benign Het
Bmpr1a C A 14: 34,147,050 (GRCm39) G241C probably damaging Het
Cacna1b G A 2: 24,622,318 (GRCm39) P222L probably damaging Het
Calcrl T C 2: 84,200,855 (GRCm39) Y63C probably damaging Het
Cand2 A G 6: 115,762,093 (GRCm39) H173R possibly damaging Het
Cap2 T A 13: 46,791,357 (GRCm39) Y175N possibly damaging Het
Card14 A T 11: 119,212,647 (GRCm39) probably null Het
Cd3d T A 9: 44,896,299 (GRCm39) Y29* probably null Het
Cd4 A G 6: 124,844,651 (GRCm39) V378A possibly damaging Het
Cluh A T 11: 74,550,828 (GRCm39) H318L probably damaging Het
Clvs1 T A 4: 9,281,899 (GRCm39) D114E probably benign Het
Cnot4 T A 6: 35,000,344 (GRCm39) T548S probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Cr2 G A 1: 194,836,458 (GRCm39) P1278S possibly damaging Het
Crebbp A T 16: 3,946,561 (GRCm39) probably null Het
Dnah7a T G 1: 53,621,835 (GRCm39) K1097Q possibly damaging Het
Doc2a T A 7: 126,450,979 (GRCm39) probably null Het
Dpp10 A T 1: 123,832,833 (GRCm39) V48E probably null Het
Dsg2 A G 18: 20,734,530 (GRCm39) K836R probably damaging Het
Egr2 T C 10: 67,375,857 (GRCm39) V164A probably damaging Het
Erbin A T 13: 103,970,221 (GRCm39) S1132T probably benign Het
Espn T A 4: 152,213,012 (GRCm39) probably null Het
Fam83b A G 9: 76,399,304 (GRCm39) S600P probably benign Het
Fanca A T 8: 124,024,551 (GRCm39) N425K possibly damaging Het
Flot2 C T 11: 77,949,445 (GRCm39) L294F probably damaging Het
Frs2 A G 10: 116,910,459 (GRCm39) V301A probably benign Het
Fv1 T A 4: 147,953,618 (GRCm39) N61K possibly damaging Het
Fxr2 A G 11: 69,540,659 (GRCm39) E339G possibly damaging Het
Gck T C 11: 5,856,515 (GRCm39) Y214C probably damaging Het
Golga3 C G 5: 110,340,839 (GRCm39) T551R probably damaging Het
Gorab A G 1: 163,224,625 (GRCm39) S59P probably damaging Het
Gsdme C T 6: 50,185,102 (GRCm39) V451M probably damaging Het
Herc4 T A 10: 63,081,743 (GRCm39) V22E possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa2 A T 6: 52,141,576 (GRCm39) S17T probably damaging Het
Hs3st5 A G 10: 36,708,882 (GRCm39) Y139C probably damaging Het
Ism1 G A 2: 139,587,937 (GRCm39) V221I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Kdm4c A G 4: 74,261,631 (GRCm39) D602G possibly damaging Het
Ktn1 A G 14: 47,932,978 (GRCm39) K711E probably damaging Het
Lce1k A T 3: 92,714,125 (GRCm39) C20S unknown Het
Macf1 A G 4: 123,350,488 (GRCm39) S3792P probably damaging Het
Maml3 C T 3: 51,598,178 (GRCm39) M189I probably benign Het
Mcc C A 18: 44,624,382 (GRCm39) E213* probably null Het
Mep1a T G 17: 43,813,573 (GRCm39) I13L probably benign Het
Mkrn2 G T 6: 115,586,562 (GRCm39) C16F probably damaging Het
Mlh1 C T 9: 111,057,631 (GRCm39) A727T probably damaging Het
Muc21 A T 17: 35,929,600 (GRCm39) S1529T probably benign Het
Naa16 T C 14: 79,593,931 (GRCm39) Y344C probably damaging Het
Nebl T A 2: 17,457,321 (GRCm39) I80F probably damaging Het
Nlrc4 T A 17: 74,752,628 (GRCm39) Y585F probably benign Het
Nrcam A G 12: 44,587,753 (GRCm39) K149R probably damaging Het
Nufip1 T A 14: 76,372,287 (GRCm39) I467N probably damaging Het
Nup133 A G 8: 124,632,960 (GRCm39) I1057T possibly damaging Het
Obscn A T 11: 58,886,653 (GRCm39) probably benign Het
Or10ag52 T A 2: 87,043,588 (GRCm39) C117* probably null Het
Or5k1 A G 16: 58,617,309 (GRCm39) V300A probably benign Het
Or5k14 A C 16: 58,692,874 (GRCm39) I213R probably benign Het
Pi4k2a A T 19: 42,104,377 (GRCm39) I380F probably damaging Het
Piezo2 A T 18: 63,207,733 (GRCm39) L1426Q probably null Het
Pik3cg A T 12: 32,254,024 (GRCm39) D654E possibly damaging Het
Poli G T 18: 70,642,058 (GRCm39) P714Q probably damaging Het
Polr3f A G 2: 144,378,230 (GRCm39) N201D probably benign Het
Prorp A G 12: 55,384,991 (GRCm39) D89G probably damaging Het
Ptprz1 A T 6: 22,959,747 (GRCm39) K81N probably benign Het
Rbm19 T C 5: 120,271,948 (GRCm39) probably null Het
Sec24a C T 11: 51,627,190 (GRCm39) V241I probably benign Het
Sgk3 A G 1: 9,950,567 (GRCm39) T160A possibly damaging Het
Slc1a4 A G 11: 20,254,375 (GRCm39) I497T probably benign Het
Slc26a9 A T 1: 131,690,532 (GRCm39) D512V probably damaging Het
Slc43a3 C T 2: 84,788,084 (GRCm39) R489C probably damaging Het
Slc5a12 T A 2: 110,452,089 (GRCm39) F327L probably benign Het
Slitrk3 A G 3: 72,957,104 (GRCm39) V556A possibly damaging Het
Spata6l A G 19: 28,926,024 (GRCm39) F130L probably damaging Het
Spib T C 7: 44,178,281 (GRCm39) E180G probably benign Het
Spint2 T A 7: 28,958,833 (GRCm39) N128Y probably damaging Het
Spx G A 6: 142,364,245 (GRCm39) G102E probably benign Het
Spz1 T A 13: 92,712,166 (GRCm39) E103D possibly damaging Het
Sstr2 T C 11: 113,515,495 (GRCm39) I138T probably benign Het
Sytl3 T A 17: 7,000,448 (GRCm39) I206N possibly damaging Het
Tcaf2 T C 6: 42,606,791 (GRCm39) T388A probably benign Het
Tdpoz8 G T 3: 92,981,344 (GRCm39) A121S probably benign Het
Thap12 T C 7: 98,365,572 (GRCm39) V580A possibly damaging Het
Tlr5 T A 1: 182,801,912 (GRCm39) D405E probably damaging Het
Tnxb T C 17: 34,890,878 (GRCm39) V407A probably damaging Het
Tpx2 T A 2: 152,732,544 (GRCm39) M606K probably benign Het
Trim43a T G 9: 88,466,312 (GRCm39) L211R probably damaging Het
Trim46 A T 3: 89,145,008 (GRCm39) Y489N probably damaging Het
Ttc28 C T 5: 111,424,188 (GRCm39) S1485L probably benign Het
Ttll8 T C 15: 88,798,654 (GRCm39) T694A probably benign Het
Txnl1 T C 18: 63,812,585 (GRCm39) T70A probably benign Het
Ube3a C T 7: 58,953,535 (GRCm39) A823V probably damaging Het
Ubqln5 C A 7: 103,778,741 (GRCm39) V28F probably damaging Het
Ulk1 T A 5: 110,935,017 (GRCm39) Q972L probably damaging Het
Unc93b1 T C 19: 3,994,062 (GRCm39) Y398H probably benign Het
Usp1 A G 4: 98,822,531 (GRCm39) D615G probably benign Het
Utp15 A G 13: 98,387,420 (GRCm39) C385R probably benign Het
Vmn2r91 T A 17: 18,356,142 (GRCm39) V603D probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt8a A G 18: 34,677,937 (GRCm39) D115G probably damaging Het
Yjefn3 A T 8: 70,341,645 (GRCm39) probably null Het
Ywhab A T 2: 163,853,807 (GRCm39) I95F probably damaging Het
Zfp143 C T 7: 109,660,489 (GRCm39) probably benign Het
Zfp607b C G 7: 27,401,949 (GRCm39) T135R possibly damaging Het
Zfp970 A G 2: 177,166,663 (GRCm39) Q79R possibly damaging 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
R0924:H2-T13 UTSW 17 36,394,824 (GRCm39) missense probably damaging 1.00
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
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'- GTTCCCAGAACTGACAGAGG -3'
(R):5'- ATGTGTACCATGAGGGGCTG -3'

Sequencing Primer
(F):5'- CTGACAGAGGACCCAGGTG -3'
(R):5'- AGTGCAGAGCTGGGGTC -3'
Posted On 2014-08-25