Incidental Mutation 'R7207:H2-DMb1'
ID 560729
Institutional Source Beutler Lab
Gene Symbol H2-DMb1
Ensembl Gene ENSMUSG00000079547
Gene Name histocompatibility 2, class II, locus Mb1
Synonyms H2-M beta1, H2-Mb1, H-2Mb1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 34372165-34379203 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34376490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 203 (I203N)
Ref Sequence ENSEMBL: ENSMUSP00000109870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114232]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114232
AA Change: I203N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109870
Gene: ENSMUSG00000079547
AA Change: I203N

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
MHC_II_beta 27 105 3.45e-23 SMART
IGc1 130 202 9.6e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,527,734 (GRCm39) Y1019H probably benign Het
Adam11 C A 11: 102,662,883 (GRCm39) A212D probably benign Het
Adamts13 C A 2: 26,868,707 (GRCm39) H230Q probably damaging Het
Adgrl3 G A 5: 81,457,874 (GRCm39) M1I probably null Het
Agap1 A T 1: 89,770,821 (GRCm39) H657L possibly damaging Het
Ano3 T C 2: 110,611,768 (GRCm39) D238G probably damaging Het
Atp8b5 A T 4: 43,357,018 (GRCm39) I589F probably damaging Het
Bmp1 C T 14: 70,717,000 (GRCm39) A859T possibly damaging Het
Cdh20 C A 1: 104,921,702 (GRCm39) D666E probably damaging Het
Cep135 T G 5: 76,780,090 (GRCm39) D807E probably benign Het
Cldn13 G A 5: 134,943,766 (GRCm39) H140Y probably benign Het
Cnksr1 G T 4: 133,962,434 (GRCm39) Q155K possibly damaging Het
Col1a1 G A 11: 94,829,352 (GRCm39) R121Q unknown Het
Coro6 G A 11: 77,358,089 (GRCm39) A225T possibly damaging Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Dhrs7b C A 11: 60,746,623 (GRCm39) Y237* probably null Het
Dnah3 A G 7: 119,570,312 (GRCm39) F2303L probably damaging Het
Dsg2 T A 18: 20,734,516 (GRCm39) D831E probably damaging Het
Dst T C 1: 34,202,418 (GRCm39) S575P probably damaging Het
Epg5 T C 18: 77,992,170 (GRCm39) L289P probably damaging Het
Etl4 A G 2: 20,714,387 (GRCm39) N162S probably damaging Het
Fbf1 A T 11: 116,040,300 (GRCm39) Y602N probably benign Het
Fgd4 A T 16: 16,302,420 (GRCm39) M45K probably benign Het
Fryl C T 5: 73,222,438 (GRCm39) V2048I probably benign Het
Gulp1 T C 1: 44,805,292 (GRCm39) V127A possibly damaging Het
Harbi1 T C 2: 91,542,790 (GRCm39) S84P probably damaging Het
Hrh2 T C 13: 54,368,266 (GRCm39) S81P possibly damaging Het
Iars1 T C 13: 49,841,791 (GRCm39) probably null Het
Kcnma1 T C 14: 23,359,083 (GRCm39) *1087W probably null Het
Lama5 T A 2: 179,848,877 (GRCm39) N241I probably damaging Het
Lig4 T A 8: 10,022,101 (GRCm39) K560* probably null Het
Lpin3 G T 2: 160,735,923 (GRCm39) E68* probably null Het
Mrtfb A T 16: 13,144,300 (GRCm39) I7L probably benign Het
Msrb3 A T 10: 120,627,305 (GRCm39) probably null Het
Muc5b A G 7: 141,416,602 (GRCm39) T3183A probably benign Het
Mx1 T A 16: 97,253,398 (GRCm39) D342V probably benign Het
Nrap G T 19: 56,333,953 (GRCm39) T1003K probably damaging Het
Or8u10 A G 2: 85,915,159 (GRCm39) S321P possibly damaging Het
Plxna2 C T 1: 194,326,327 (GRCm39) P87L probably damaging Het
Pms2 C T 5: 143,850,452 (GRCm39) T89I probably damaging Het
Ppp1r12c C A 7: 4,492,867 (GRCm39) R203L probably damaging Het
Pramel31 A G 4: 144,088,473 (GRCm39) T90A probably benign Het
Rab44 C T 17: 29,357,013 (GRCm39) Q48* probably null Het
Rgs14 T C 13: 55,531,047 (GRCm39) V417A probably benign Het
Sgms1 T A 19: 32,120,147 (GRCm39) K253M probably null Het
Sidt2 T C 9: 45,856,449 (GRCm39) Y492C probably damaging Het
Slco1a5 G T 6: 142,194,475 (GRCm39) Y389* probably null Het
Slfn14 G A 11: 83,170,214 (GRCm39) Q477* probably null Het
Sorbs3 T C 14: 70,438,934 (GRCm39) K142R probably damaging Het
Sphk1 A T 11: 116,426,590 (GRCm39) D182V probably damaging Het
Srsf9 C G 5: 115,465,481 (GRCm39) Y38* probably null Het
Stk40 A C 4: 126,019,547 (GRCm39) E107A probably damaging Het
Syngr4 T C 7: 45,538,101 (GRCm39) Y89C possibly damaging Het
Tead1 G A 7: 112,441,287 (GRCm39) R109H possibly damaging Het
Thra A G 11: 98,651,802 (GRCm39) Q108R probably damaging Het
Tnni3k G A 3: 154,580,782 (GRCm39) T621I probably damaging Het
Trim3 A C 7: 105,262,583 (GRCm39) V525G possibly damaging Het
Usp49 T C 17: 47,989,802 (GRCm39) V529A probably benign Het
Vill A T 9: 118,900,281 (GRCm39) Q849L possibly damaging Het
Vps36 T A 8: 22,701,623 (GRCm39) S237T probably benign Het
Zar1l A T 5: 150,430,558 (GRCm39) C284* probably null Het
Zfp948 T C 17: 21,808,602 (GRCm39) V598A possibly damaging Het
Zfp952 T C 17: 33,222,489 (GRCm39) Y323H possibly damaging Het
Other mutations in H2-DMb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03356:H2-DMb1 APN 17 34,376,514 (GRCm39) splice site probably benign
R0374:H2-DMb1 UTSW 17 34,378,399 (GRCm39) missense probably benign 0.08
R0436:H2-DMb1 UTSW 17 34,378,630 (GRCm39) missense probably damaging 1.00
R0454:H2-DMb1 UTSW 17 34,374,685 (GRCm39) missense probably benign 0.32
R0850:H2-DMb1 UTSW 17 34,374,536 (GRCm39) missense probably benign 0.00
R2355:H2-DMb1 UTSW 17 34,376,289 (GRCm39) missense probably damaging 1.00
R4211:H2-DMb1 UTSW 17 34,374,547 (GRCm39) missense possibly damaging 0.87
R5786:H2-DMb1 UTSW 17 34,372,408 (GRCm39) missense possibly damaging 0.73
R6125:H2-DMb1 UTSW 17 34,376,439 (GRCm39) missense probably damaging 1.00
R6313:H2-DMb1 UTSW 17 34,376,506 (GRCm39) critical splice donor site probably null
R6385:H2-DMb1 UTSW 17 34,374,576 (GRCm39) missense probably benign 0.00
R6993:H2-DMb1 UTSW 17 34,376,324 (GRCm39) missense possibly damaging 0.95
R7324:H2-DMb1 UTSW 17 34,378,436 (GRCm39) critical splice donor site probably null
R8084:H2-DMb1 UTSW 17 34,376,327 (GRCm39) missense probably damaging 1.00
R8116:H2-DMb1 UTSW 17 34,374,443 (GRCm39) missense probably damaging 1.00
RF015:H2-DMb1 UTSW 17 34,374,476 (GRCm39) missense probably damaging 1.00
RF016:H2-DMb1 UTSW 17 34,376,360 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAGCGGATGTGACCATC -3'
(R):5'- TGACAATCAGGTTGCTCTCCC -3'

Sequencing Primer
(F):5'- TCACATGGATGAAGAATGGGC -3'
(R):5'- TCCCTTGCTCACACAGACATC -3'
Posted On 2019-06-26