Incidental Mutation 'R8210:H2-M11'
ID 636144
Institutional Source Beutler Lab
Gene Symbol H2-M11
Ensembl Gene ENSMUSG00000037537
Gene Name histocompatibility 2, M region locus 11
Synonyms
MMRRC Submission 067633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R8210 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 36857967-36860142 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36858860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 133 (F133L)
Ref Sequence ENSEMBL: ENSMUSP00000042522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041964]
AlphaFold F6U8V3
Predicted Effect probably damaging
Transcript: ENSMUST00000041964
AA Change: F133L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042522
Gene: ENSMUSG00000037537
AA Change: F133L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:MHC_I 25 203 2.8e-44 PFAM
IGc1 222 293 1.91e-18 SMART
transmembrane domain 308 330 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,517,083 (GRCm39) P577S probably damaging Het
Adal T C 2: 120,985,236 (GRCm39) V269A possibly damaging Het
Adam33 T C 2: 130,898,250 (GRCm39) T155A probably benign Het
Adgre1 A T 17: 57,752,061 (GRCm39) E603V possibly damaging Het
Adgrf4 T C 17: 42,978,441 (GRCm39) T301A probably damaging Het
Agtpbp1 G T 13: 59,630,385 (GRCm39) A782E possibly damaging Het
Ank3 A T 10: 69,811,925 (GRCm39) K1197N possibly damaging Het
Anxa9 A T 3: 95,213,207 (GRCm39) D46E probably damaging Het
Atg9a T C 1: 75,161,927 (GRCm39) T540A probably damaging Het
Atg9a A G 1: 75,163,009 (GRCm39) Y364H probably damaging Het
Bltp1 A C 3: 37,067,030 (GRCm39) E73A Het
Cd300c2 C T 11: 114,891,634 (GRCm39) G80D possibly damaging Het
Cebpz T C 17: 79,230,685 (GRCm39) E844G probably benign Het
Celsr1 T C 15: 85,863,436 (GRCm39) I1199V probably benign Het
Cftr A G 6: 18,220,696 (GRCm39) N189S probably damaging Het
Dhrs13 G T 11: 77,924,302 (GRCm39) R116I unknown Het
Dnah10 A G 5: 124,827,858 (GRCm39) M735V probably benign Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
E130208F15Rik C A 7: 30,021,619 (GRCm39) S93* probably null Het
E330034G19Rik T C 14: 24,346,104 (GRCm39) I92T Het
Eef1d A T 15: 75,768,309 (GRCm39) V511D probably damaging Het
Efna1 T G 3: 89,183,520 (GRCm39) E102A probably damaging Het
Htr3b G T 9: 48,847,343 (GRCm39) probably null Het
Kcns3 A G 12: 11,142,253 (GRCm39) S149P probably damaging Het
Lhx4 T A 1: 155,586,214 (GRCm39) probably null Het
Lrp1 C T 10: 127,412,354 (GRCm39) V1317M probably damaging Het
Mphosph9 A G 5: 124,405,174 (GRCm39) I799T probably damaging Het
Muc1 C T 3: 89,138,906 (GRCm39) A505V probably damaging Het
Muc6 C A 7: 141,235,673 (GRCm39) probably null Het
Mylk A G 16: 34,820,721 (GRCm39) D1891G probably damaging Het
Nfe2l3 A T 6: 51,428,065 (GRCm39) H209L probably benign Het
Nprl2 A C 9: 107,421,947 (GRCm39) Y241S probably damaging Het
Oprm1 A T 10: 6,780,442 (GRCm39) Q368L probably benign Het
Or4g7 T A 2: 111,309,753 (GRCm39) M208K possibly damaging Het
Pcm1 C T 8: 41,766,974 (GRCm39) R1593C probably damaging Het
Pitpnm1 T C 19: 4,162,878 (GRCm39) probably null Het
Pnoc A G 14: 65,642,521 (GRCm39) S81P probably benign Het
Prkg2 T A 5: 99,114,393 (GRCm39) D585V probably damaging Het
Prpf38b A T 3: 108,815,148 (GRCm39) probably benign Het
Ranbp3l G T 15: 9,065,059 (GRCm39) S482I probably benign Het
Rapgef4 T C 2: 72,056,364 (GRCm39) F651L probably benign Het
Rasgrf1 A G 9: 89,793,675 (GRCm39) T151A unknown Het
Rnf215 T C 11: 4,085,544 (GRCm39) L91P possibly damaging Het
Rph3a T C 5: 121,099,312 (GRCm39) H193R probably benign Het
Rps17 C T 7: 80,994,750 (GRCm39) V4I probably benign Het
Sec61a2 A T 2: 5,881,728 (GRCm39) F234Y possibly damaging Het
Serpinb8 T C 1: 107,526,736 (GRCm39) L92P probably damaging Het
Slc1a6 A T 10: 78,632,091 (GRCm39) I306F possibly damaging Het
Slc26a11 T C 11: 119,270,692 (GRCm39) V538A possibly damaging Het
Slc27a1 G A 8: 72,032,566 (GRCm39) S193N probably benign Het
Slc9b1 T C 3: 135,097,948 (GRCm39) S393P probably damaging Het
Slfn3 T A 11: 83,105,332 (GRCm39) I320K possibly damaging Het
Spata31f1a T A 4: 42,848,542 (GRCm39) M1205L probably benign Het
Tgfbr1 A T 4: 47,406,924 (GRCm39) I420F probably benign Het
Tnik A T 3: 28,658,482 (GRCm39) D589V possibly damaging Het
Trappc8 A C 18: 21,006,938 (GRCm39) probably null Het
Ttbk1 A G 17: 46,791,087 (GRCm39) S66P possibly damaging Het
Unc13c A G 9: 73,392,220 (GRCm39) V2044A probably benign Het
Usp53 T C 3: 122,741,045 (GRCm39) E735G probably benign Het
Vmn2r-ps158 T A 7: 42,673,462 (GRCm39) N180K probably benign Het
Zfyve26 A T 12: 79,302,037 (GRCm39) V1853D probably damaging Het
Zkscan17 A G 11: 59,394,574 (GRCm39) V9A probably damaging Het
Other mutations in H2-M11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:H2-M11 APN 17 36,858,445 (GRCm39) missense probably benign 0.00
IGL01657:H2-M11 APN 17 36,858,465 (GRCm39) missense probably benign 0.00
IGL02249:H2-M11 APN 17 36,858,829 (GRCm39) missense probably benign 0.39
IGL03263:H2-M11 APN 17 36,859,805 (GRCm39) missense probably damaging 1.00
R0481:H2-M11 UTSW 17 36,859,846 (GRCm39) nonsense probably null
R0639:H2-M11 UTSW 17 36,858,283 (GRCm39) missense probably benign 0.00
R0866:H2-M11 UTSW 17 36,859,829 (GRCm39) missense probably benign 0.00
R0924:H2-M11 UTSW 17 36,860,106 (GRCm39) missense probably benign
R0925:H2-M11 UTSW 17 36,858,353 (GRCm39) missense probably benign 0.00
R1707:H2-M11 UTSW 17 36,859,658 (GRCm39) missense probably damaging 1.00
R2212:H2-M11 UTSW 17 36,859,822 (GRCm39) missense probably damaging 1.00
R2566:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R2567:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R3029:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R3030:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R3893:H2-M11 UTSW 17 36,857,982 (GRCm39) missense probably benign 0.01
R3946:H2-M11 UTSW 17 36,860,123 (GRCm39) missense probably damaging 1.00
R4647:H2-M11 UTSW 17 36,858,883 (GRCm39) missense probably benign 0.06
R4679:H2-M11 UTSW 17 36,859,042 (GRCm39) missense possibly damaging 0.76
R4868:H2-M11 UTSW 17 36,859,811 (GRCm39) missense probably damaging 1.00
R4876:H2-M11 UTSW 17 36,858,401 (GRCm39) missense probably benign 0.09
R5496:H2-M11 UTSW 17 36,858,871 (GRCm39) missense possibly damaging 0.73
R6514:H2-M11 UTSW 17 36,859,839 (GRCm39) missense probably damaging 1.00
R7779:H2-M11 UTSW 17 36,859,698 (GRCm39) missense probably benign 0.14
R8072:H2-M11 UTSW 17 36,859,026 (GRCm39) missense probably benign 0.13
R8249:H2-M11 UTSW 17 36,859,900 (GRCm39) missense probably damaging 1.00
R8425:H2-M11 UTSW 17 36,859,649 (GRCm39) missense probably benign 0.00
R8466:H2-M11 UTSW 17 36,858,985 (GRCm39) missense probably benign 0.35
R8906:H2-M11 UTSW 17 36,859,851 (GRCm39) nonsense probably null
R9688:H2-M11 UTSW 17 36,859,054 (GRCm39) missense probably damaging 1.00
Z1176:H2-M11 UTSW 17 36,859,662 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TCAAGGGAGCCATAGGACAC -3'
(R):5'- TCCAGCTCTGTGAGGAATAAGTC -3'

Sequencing Primer
(F):5'- GAGCCATAGGACACTGTTCTG -3'
(R):5'- GGAATAAGTCCACACATTCAACCTC -3'
Posted On 2020-07-13