Incidental Mutation 'R9582:H2-T13'
ID 722629
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
Accession Numbers
Essential gene? Not available question?
Stock # R9582 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 36391007-36395115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36392375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 33 (R33S)
Ref Sequence ENSEMBL: ENSMUSP00000139165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173080] [ENSMUST00000183560] [ENSMUST00000183999] [ENSMUST00000184502] [ENSMUST00000185087] [ENSMUST00000185167] [ENSMUST00000192532] [ENSMUST00000194244] [ENSMUST00000195833] [ENSMUST00000195838]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000173080
AA Change: R215S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: R215S

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: 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 unknown
Transcript: ENSMUST00000183999
AA Change: R33S
SMART Domains Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: R33S

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
SMART Domains Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406

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

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: R205S

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 benign
Transcript: ENSMUST00000194244
AA Change: R123S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: R123S

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 possibly damaging
Transcript: ENSMUST00000195833
AA Change: R112S

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: R112S

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: ENSMUST00000195838
AA Change: R204S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: R204S

DomainStartEndE-ValueType
Pfam:MHC_I 12 189 1e-82 PFAM
IGc1 208 278 6.29e-19 SMART
transmembrane domain 294 316 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,766 (GRCm39) F652I probably damaging Het
Adam17 A T 12: 21,386,665 (GRCm39) I457K probably benign Het
Arpin T C 7: 79,585,038 (GRCm39) probably benign Het
Bhlhe40 A G 6: 108,638,467 (GRCm39) E51G probably benign Het
Ces1a C T 8: 93,766,156 (GRCm39) D153N probably benign Het
Cog7 T C 7: 121,536,200 (GRCm39) M547V probably benign Het
Csrnp2 C T 15: 100,386,067 (GRCm39) R57K possibly damaging Het
Dact1 A T 12: 71,365,619 (GRCm39) K763M probably damaging Het
Ddost A T 4: 138,035,583 (GRCm39) I101F possibly damaging Het
Dyrk1b C T 7: 27,882,028 (GRCm39) R130W probably damaging Het
Ep400 A C 5: 110,824,315 (GRCm39) probably null Het
Fam227a A G 15: 79,501,978 (GRCm39) V532A probably benign Het
Flnc C A 6: 29,460,736 (GRCm39) T2609K probably damaging Het
Gbp10 A G 5: 105,372,256 (GRCm39) V168A probably benign Het
Gp5 A G 16: 30,127,057 (GRCm39) V539A probably benign Het
Itih5 A G 2: 10,195,013 (GRCm39) E135G probably benign Het
L2hgdh A G 12: 69,739,172 (GRCm39) V433A probably benign Het
Leng9 A G 7: 4,152,263 (GRCm39) S138P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ly6g6e T C 17: 35,296,159 (GRCm39) V10A probably benign Het
Lypla1 C T 1: 4,911,248 (GRCm39) P178S probably benign Het
Mark1 A G 1: 184,651,858 (GRCm39) F216L possibly damaging Het
Mertk G A 2: 128,624,527 (GRCm39) R646Q possibly damaging Het
Mmp9 A C 2: 164,791,235 (GRCm39) D135A probably benign Het
Nefl A G 14: 68,324,849 (GRCm39) K529E unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nwd1 A G 8: 73,421,917 (GRCm39) T988A probably damaging Het
P4ha2 T A 11: 54,022,065 (GRCm39) C529* probably null Het
Pcdhb4 T A 18: 37,441,417 (GRCm39) F242L probably damaging Het
Pced1b A G 15: 97,282,450 (GRCm39) N163S probably damaging Het
Pde8b A G 13: 95,169,369 (GRCm39) V585A probably damaging Het
Pknox2 T A 9: 36,804,252 (GRCm39) T432S probably damaging Het
Rad18 A G 6: 112,658,298 (GRCm39) probably null Het
Rpgrip1l C T 8: 91,996,886 (GRCm39) V665I probably benign Het
Rreb1 A G 13: 38,114,734 (GRCm39) I698V probably benign Het
Schip1 TCTGGCC TC 3: 68,525,060 (GRCm39) probably null Het
Slc2a4 C T 11: 69,837,450 (GRCm39) V32M probably damaging Het
Slc40a1 A G 1: 45,950,499 (GRCm39) Y318H probably damaging Het
Spag16 A G 1: 69,897,717 (GRCm39) T156A probably benign Het
Srebf1 C A 11: 60,097,868 (GRCm39) A103S probably benign Het
Sspn C T 6: 145,899,334 (GRCm39) probably benign Het
Stoml2 A T 4: 43,030,238 (GRCm39) probably null Het
Stra6 T A 9: 58,054,770 (GRCm39) V319E probably damaging Het
Syt7 T C 19: 10,416,780 (GRCm39) F414L probably damaging Het
Tet3 G T 6: 83,381,226 (GRCm39) P314Q probably damaging Het
Tnrc18 A T 5: 142,757,128 (GRCm39) L1313Q Het
Topors A T 4: 40,260,460 (GRCm39) D941E unknown Het
Txnip T A 3: 96,465,659 (GRCm39) C36* probably null Het
Uba3 A T 6: 97,168,491 (GRCm39) M178K probably damaging Het
Vmn1r6 A G 6: 56,979,925 (GRCm39) T196A probably benign Het
Vwc2 T A 11: 11,066,129 (GRCm39) S72R probably benign Het
Wnk2 A G 13: 49,210,975 (GRCm39) S1627P 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
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
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
Predicted Primers PCR Primer
(F):5'- ATTCTGCTCCTTCCCAAGAGG -3'
(R):5'- CAAACAGACACATAGTTCGGTG -3'

Sequencing Primer
(F):5'- GAGGCACCACCACAGCTG -3'
(R):5'- CACATAGTTCGGTGTCATCATTG -3'
Posted On 2022-08-09