Incidental Mutation 'R7291:H2-M10.1'
ID566451
Institutional Source Beutler Lab
Gene Symbol H2-M10.1
Ensembl Gene ENSMUSG00000024448
Gene Namehistocompatibility 2, M region locus 10.1
Synonyms9.5H
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #R7291 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location36322858-36326155 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36325729 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 61 (D61V)
Ref Sequence ENSEMBL: ENSMUSP00000025322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025322]
Predicted Effect probably damaging
Transcript: ENSMUST00000025322
AA Change: D61V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025322
Gene: ENSMUSG00000024448
AA Change: D61V

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Pfam:MHC_I 25 203 3.2e-54 PFAM
IGc1 222 293 3.72e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172576
SMART Domains Protein: ENSMUSP00000133408
Gene: ENSMUSG00000024448

DomainStartEndE-ValueType
Pfam:MHC_I 12 159 5e-43 PFAM
IGc1 178 249 3.72e-21 SMART
transmembrane domain 262 284 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430069I07Rik T C 15: 34,355,553 E51G possibly damaging Het
9530053A07Rik A C 7: 28,140,220 D486A probably benign Het
Abca14 C A 7: 120,289,609 C1259* probably null Het
Ablim1 T C 19: 57,215,908 E17G probably benign Het
Acsf3 G A 8: 122,813,577 V505I probably benign Het
Actn1 T C 12: 80,174,085 M650V probably benign Het
Adamts4 G A 1: 171,256,528 V525I probably benign Het
Adh1 T C 3: 138,282,808 Y181H probably damaging Het
Alpl G A 4: 137,752,698 R168W probably damaging Het
Ate1 T G 7: 130,519,931 K11Q probably benign Het
Atpaf1 T A 4: 115,811,091 F314L probably damaging Het
Baiap3 T A 17: 25,244,317 D1004V probably damaging Het
Bpifb9a C T 2: 154,267,696 T504M probably damaging Het
C1s2 T A 6: 124,625,384 I623F probably benign Het
Card11 T C 5: 140,901,070 D308G probably damaging Het
Cul9 C T 17: 46,540,433 V354I probably benign Het
Dnah1 A T 14: 31,298,705 F1236I probably damaging Het
Dync2h1 T A 9: 6,929,590 I4266F possibly damaging Het
Ear10 A T 14: 43,922,920 V150D probably damaging Het
Elfn2 C T 15: 78,672,983 A455T probably benign Het
Erp44 A G 4: 48,208,792 Y223H probably damaging Het
Fam110b T A 4: 5,798,895 H104Q probably benign Het
Fcgbp A G 7: 28,101,392 N1288D probably benign Het
Fcrl1 T C 3: 87,385,781 probably null Het
Fmo2 G T 1: 162,887,702 P117Q probably benign Het
Fsip2 A G 2: 82,980,519 K2394R possibly damaging Het
Gab1 T G 8: 80,800,151 K106T probably damaging Het
Gatad2b T C 3: 90,351,414 V248A probably damaging Het
Gemin6 T C 17: 80,227,775 S55P possibly damaging Het
Gfm2 G A 13: 97,175,024 V701I probably benign Het
Gm3250 T C 10: 77,782,227 T106A unknown Het
Gm7356 T C 17: 14,001,581 N62S probably benign Het
Gsdmc4 T C 15: 63,902,840 T31A possibly damaging Het
Heatr5a A G 12: 51,925,339 L716S probably damaging Het
Hecw2 A G 1: 53,914,594 Y831H probably damaging Het
Ifi202b C T 1: 173,974,815 S151N probably benign Het
Il15ra C T 2: 11,718,381 T72I probably damaging Het
Ints1 A G 5: 139,765,074 L858P probably damaging Het
Kat2a C T 11: 100,710,900 V230I possibly damaging Het
Kcnq2 A T 2: 181,088,379 I498N possibly damaging Het
Kif26b C T 1: 178,679,046 T229I possibly damaging Het
Ly75 T A 2: 60,329,993 I957F probably damaging Het
Map3k12 T A 15: 102,502,166 R459W probably damaging Het
Mia2 T A 12: 59,158,369 probably null Het
Mrgprf A G 7: 145,307,469 I53V unknown Het
Mttp A G 3: 138,091,203 L846P probably damaging Het
Myrip C T 9: 120,417,141 L112F probably damaging Het
Nav1 A G 1: 135,465,859 F1047S probably damaging Het
Nfkbib T C 7: 28,759,203 D327G possibly damaging Het
Notch1 C T 2: 26,476,375 V776I probably benign Het
Obsl1 G T 1: 75,489,517 D1522E probably damaging Het
Olfr1464-ps1 A T 19: 13,282,153 F302I unknown Het
Olfr605 T A 7: 103,442,788 M112L probably benign Het
Olfr823 T C 10: 130,112,224 K189E probably benign Het
Olfr859 T C 9: 19,808,648 M110T possibly damaging Het
Pde7a T C 3: 19,227,674 N471D probably benign Het
Pla2r1 T C 2: 60,530,435 H203R probably benign Het
Plch2 C A 4: 154,998,472 C573F probably damaging Het
Polr1a G A 6: 71,941,456 R666Q probably benign Het
Prepl T C 17: 85,081,240 N145S probably benign Het
Psen2 C T 1: 180,238,956 V139M probably benign Het
Ptgdr A T 14: 44,859,192 M21K possibly damaging Het
Rapgef6 T C 11: 54,691,239 W1331R probably benign Het
Rp1l1 G A 14: 64,032,298 G1778S probably benign Het
Rrbp1 A T 2: 143,969,462 M824K probably benign Het
Sel1l T C 12: 91,848,965 T23A probably benign Het
Sele A G 1: 164,053,868 S515G possibly damaging Het
Slc22a23 T C 13: 34,197,839 N421D probably damaging Het
Slc35f3 T G 8: 126,394,558 L386R probably benign Het
Stab2 G A 10: 86,946,220 S699L probably damaging Het
Synrg A T 11: 84,009,381 L726F probably damaging Het
Syt3 G A 7: 44,395,919 V528M probably damaging Het
Szt2 A G 4: 118,391,249 I655T probably damaging Het
Tbr1 T C 2: 61,812,256 S622P probably damaging Het
Tex36 C T 7: 133,587,223 G207S probably benign Het
Trav5n-4 G A 14: 53,312,942 W13* probably null Het
Trdn A T 10: 33,437,736 E500V probably null Het
Ugt2b38 A T 5: 87,411,895 N379K probably damaging Het
Unc13d T C 11: 116,074,050 R248G possibly damaging Het
Vmn1r195 C T 13: 22,278,749 L130F probably damaging Het
Vmn2r110 T C 17: 20,574,209 I733V probably benign Het
Zfp870 T A 17: 32,883,854 N167I probably damaging Het
Zmynd10 A T 9: 107,549,304 M179L probably benign Het
Other mutations in H2-M10.1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:H2-M10.1 APN 17 36325079 nonsense probably null
IGL02063:H2-M10.1 APN 17 36324009 splice site probably benign
R1572:H2-M10.1 UTSW 17 36325733 missense possibly damaging 0.64
R1651:H2-M10.1 UTSW 17 36325756 missense probably damaging 1.00
R2049:H2-M10.1 UTSW 17 36325216 missense possibly damaging 0.68
R2251:H2-M10.1 UTSW 17 36325606 missense probably damaging 1.00
R3508:H2-M10.1 UTSW 17 36325614 missense possibly damaging 0.59
R3762:H2-M10.1 UTSW 17 36325324 missense probably damaging 1.00
R3892:H2-M10.1 UTSW 17 36324389 missense possibly damaging 0.61
R3922:H2-M10.1 UTSW 17 36325685 missense probably benign
R5120:H2-M10.1 UTSW 17 36325156 missense probably benign
R6258:H2-M10.1 UTSW 17 36324102 missense unknown
R6260:H2-M10.1 UTSW 17 36324102 missense unknown
R6988:H2-M10.1 UTSW 17 36325592 missense probably benign
R8229:H2-M10.1 UTSW 17 36324039 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- CCTAGAGTCGAGCTTATTGGG -3'
(R):5'- TTCCAAACTGCTCTGGGTCC -3'

Sequencing Primer
(F):5'- ATGTCATGACCTCAGAGCTG -3'
(R):5'- TCTGGGTCCAGGCTGAAGAG -3'
Posted On2019-06-26