Incidental Mutation 'R8072:H2-M11'
ID620306
Institutional Source Beutler Lab
Gene Symbol H2-M11
Ensembl Gene ENSMUSG00000037537
Gene Namehistocompatibility 2, M region locus 11
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R8072 (G1)
Quality Score225.009
Status Not validated
Chromosome17
Chromosomal Location36547075-36549250 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 36548134 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 189 (V189L)
Ref Sequence ENSEMBL: ENSMUSP00000042522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041964]
Predicted Effect probably benign
Transcript: ENSMUST00000041964
AA Change: V189L

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042522
Gene: ENSMUSG00000037537
AA Change: V189L

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: 99.3%
  • 20x: 97.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,294,574 S2146P probably benign Het
Acad9 G A 3: 36,075,255 V160I probably benign Het
Ace T C 11: 105,972,959 V411A probably damaging Het
Ankrd66 T C 17: 43,543,635 E2G possibly damaging Het
Apol6 A T 15: 77,051,103 T191S probably benign Het
Arhgef17 T A 7: 100,881,797 T352S probably benign Het
Atad2 C T 15: 58,099,978 R1081Q possibly damaging Het
Atg3 G T 16: 45,187,685 V297F probably damaging Het
Atp9b A C 18: 80,765,061 S663A Het
Col10a1 G T 10: 34,390,667 V16F unknown Het
Col3a1 G A 1: 45,321,574 V55I unknown Het
Ctns T C 11: 73,191,746 T53A probably benign Het
Cyp2b23 A T 7: 26,666,006 I468N probably damaging Het
Dcbld2 G A 16: 58,463,097 W565* probably null Het
Esco2 A T 14: 65,832,681 N16K probably benign Het
Fggy A G 4: 95,844,157 N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,020,665 probably benign Het
Gm4846 T C 1: 166,494,672 T109A probably benign Het
Hmcn1 T A 1: 150,656,505 T3175S possibly damaging Het
Hook2 G A 8: 84,994,491 V184M probably benign Het
Hspa4l A T 3: 40,786,746 D730V probably damaging Het
Igkv4-68 C T 6: 69,305,129 M19I probably benign Het
Igsf9b C A 9: 27,317,364 T140N possibly damaging Het
Kcnj1 G A 9: 32,397,297 R339Q probably damaging Het
Lcn8 T G 2: 25,655,172 L118W probably damaging Het
Lin28a A G 4: 134,018,142 F47L possibly damaging Het
Loxl4 T C 19: 42,607,582 E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mrgprb1 C A 7: 48,448,147 E6* probably null Het
Mthfsd A C 8: 121,098,816 Y339D probably damaging Het
Mup11 A T 4: 60,659,778 F153L probably damaging Het
Pcdhac2 G A 18: 37,145,664 V566M probably benign Het
Plpp7 G T 2: 32,096,109 A100S probably benign Het
Prg4 T C 1: 150,456,023 T300A possibly damaging Het
Ptprd A G 4: 76,086,036 F161L probably benign Het
Pwp2 G A 10: 78,172,096 A875V possibly damaging Het
Rhd A G 4: 134,884,149 T207A possibly damaging Het
Sh2d3c C T 2: 32,753,138 R778C probably damaging Het
Slc34a3 A C 2: 25,229,277 V527G probably benign Het
Smad2 T C 18: 76,286,951 probably null Het
Sp110 GTACT GTACTACT 1: 85,587,486 probably benign Het
Spata21 C T 4: 141,112,006 Q611* probably null Het
Taf4b A G 18: 14,821,528 T554A probably benign Het
Tial1 T C 7: 128,442,470 T107A unknown Het
Ubxn6 C A 17: 56,073,195 R42L probably benign Het
Vmn2r90 A T 17: 17,726,880 N473I probably damaging Het
Ythdc1 T A 5: 86,821,274 Y351* probably null Het
Other mutations in H2-M11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:H2-M11 APN 17 36547553 missense probably benign 0.00
IGL01657:H2-M11 APN 17 36547573 missense probably benign 0.00
IGL02249:H2-M11 APN 17 36547937 missense probably benign 0.39
IGL03263:H2-M11 APN 17 36548913 missense probably damaging 1.00
R0481:H2-M11 UTSW 17 36548954 nonsense probably null
R0639:H2-M11 UTSW 17 36547391 missense probably benign 0.00
R0866:H2-M11 UTSW 17 36548937 missense probably benign 0.00
R0924:H2-M11 UTSW 17 36549214 missense probably benign
R0925:H2-M11 UTSW 17 36547461 missense probably benign 0.00
R1707:H2-M11 UTSW 17 36548766 missense probably damaging 1.00
R2212:H2-M11 UTSW 17 36548930 missense probably damaging 1.00
R2566:H2-M11 UTSW 17 36548150 missense possibly damaging 0.76
R2567:H2-M11 UTSW 17 36548150 missense possibly damaging 0.76
R3029:H2-M11 UTSW 17 36548150 missense possibly damaging 0.76
R3030:H2-M11 UTSW 17 36548150 missense possibly damaging 0.76
R3893:H2-M11 UTSW 17 36547090 missense probably benign 0.01
R3946:H2-M11 UTSW 17 36549231 missense probably damaging 1.00
R4647:H2-M11 UTSW 17 36547991 missense probably benign 0.06
R4679:H2-M11 UTSW 17 36548150 missense possibly damaging 0.76
R4868:H2-M11 UTSW 17 36548919 missense probably damaging 1.00
R4876:H2-M11 UTSW 17 36547509 missense probably benign 0.09
R5496:H2-M11 UTSW 17 36547979 missense possibly damaging 0.73
R6514:H2-M11 UTSW 17 36548947 missense probably damaging 1.00
R7779:H2-M11 UTSW 17 36548806 missense probably benign 0.14
R8210:H2-M11 UTSW 17 36547968 missense probably damaging 0.98
R8249:H2-M11 UTSW 17 36549008 missense probably damaging 1.00
R8425:H2-M11 UTSW 17 36548757 missense probably benign 0.00
R8466:H2-M11 UTSW 17 36548093 missense probably benign 0.35
R8906:H2-M11 UTSW 17 36548959 nonsense probably null
Z1176:H2-M11 UTSW 17 36548770 missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TCACACAATCCAGAGAAGGTATGG -3'
(R):5'- GAGAGAGTCCCTCCTTCATGTTG -3'

Sequencing Primer
(F):5'- CTGCCTCGAGGGTATTTCAGAAAC -3'
(R):5'- CCTTCATGTTGATTCAAGAAACCC -3'
Posted On2020-01-23