Incidental Mutation 'R0206:H2-M10.4'
ID 35485
Institutional Source Beutler Lab
Gene Symbol H2-M10.4
Ensembl Gene ENSMUSG00000048231
Gene Name histocompatibility 2, M region locus 10.4
Synonyms 15H
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R0206 (G1)
Quality Score 173
Status Validated
Chromosome 17
Chromosomal Location 36769809-36773221 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36771375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 268 (W268R)
Ref Sequence ENSEMBL: ENSMUSP00000130832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057502] [ENSMUST00000169950]
AlphaFold Q85ZW8
Predicted Effect probably damaging
Transcript: ENSMUST00000057502
AA Change: W268R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058686
Gene: ENSMUSG00000048231
AA Change: W268R

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 5.7e-45 PFAM
IGc1 222 293 7.45e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169950
AA Change: W268R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130832
Gene: ENSMUSG00000048231
AA Change: W268R

DomainStartEndE-ValueType
Pfam:MHC_I 25 203 8.2e-45 PFAM
IGc1 222 293 7.45e-21 SMART
transmembrane domain 306 328 N/A INTRINSIC
Meta Mutation Damage Score 0.8305 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.1%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 99% (83/84)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Acsl5 A G 19: 55,269,001 (GRCm39) K221E probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Adgrb2 T C 4: 129,886,352 (GRCm39) L164P probably damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Btbd8 A G 5: 107,652,906 (GRCm39) T304A probably benign Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdca3 C T 6: 124,809,514 (GRCm39) probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Csgalnact2 T G 6: 118,091,347 (GRCm39) Q197P probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Ddt A G 10: 75,608,719 (GRCm39) M1T probably null Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gabra6 C T 11: 42,207,906 (GRCm39) W188* probably null Het
Gnptab A T 10: 88,275,372 (GRCm39) H1111L probably damaging Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Inhca A G 9: 103,159,861 (GRCm39) C5R probably damaging Het
Inpp5k T C 11: 75,521,969 (GRCm39) I15T probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Kctd8 A T 5: 69,498,508 (GRCm39) V46E probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mvk C T 5: 114,597,035 (GRCm39) T334M probably damaging Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or2ag12 A G 7: 106,276,781 (GRCm39) V304A probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Pomgnt1 T C 4: 116,015,757 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Rlig1 T A 10: 100,422,056 (GRCm39) K69* probably null Het
Rmdn2 T A 17: 79,957,716 (GRCm39) probably benign Het
Ryr2 A G 13: 11,691,137 (GRCm39) probably benign Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Slc1a3 A G 15: 8,738,040 (GRCm39) probably benign Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Snx33 G A 9: 56,833,508 (GRCm39) S187L probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tinag A G 9: 76,907,134 (GRCm39) I367T probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ube4b T C 4: 149,483,094 (GRCm39) H58R probably benign Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Usp28 A G 9: 48,939,569 (GRCm39) Y275C probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Vps13c A G 9: 67,846,444 (GRCm39) probably benign Het
Vwf T C 6: 125,614,419 (GRCm39) F1100S probably damaging Het
Zfp318 G T 17: 46,709,945 (GRCm39) R556L probably benign Het
Zkscan1 T A 5: 138,099,448 (GRCm39) C391S probably damaging Het
Other mutations in H2-M10.4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02329:H2-M10.4 APN 17 36,771,359 (GRCm39) missense probably damaging 1.00
IGL02651:H2-M10.4 APN 17 36,771,548 (GRCm39) missense probably benign 0.10
IGL02821:H2-M10.4 APN 17 36,771,323 (GRCm39) missense probably damaging 1.00
IGL03123:H2-M10.4 APN 17 36,772,812 (GRCm39) missense probably damaging 0.99
IGL03171:H2-M10.4 APN 17 36,772,142 (GRCm39) missense probably damaging 0.98
R0208:H2-M10.4 UTSW 17 36,771,375 (GRCm39) missense probably damaging 1.00
R3979:H2-M10.4 UTSW 17 36,772,877 (GRCm39) missense probably benign 0.23
R4535:H2-M10.4 UTSW 17 36,772,736 (GRCm39) missense probably damaging 0.97
R4685:H2-M10.4 UTSW 17 36,772,688 (GRCm39) missense probably benign 0.23
R4702:H2-M10.4 UTSW 17 36,772,874 (GRCm39) missense probably benign 0.25
R5390:H2-M10.4 UTSW 17 36,771,533 (GRCm39) missense probably damaging 1.00
R5945:H2-M10.4 UTSW 17 36,771,518 (GRCm39) missense probably benign 0.01
R8135:H2-M10.4 UTSW 17 36,772,662 (GRCm39) missense probably benign
R8956:H2-M10.4 UTSW 17 36,772,245 (GRCm39) missense probably benign 0.08
R9342:H2-M10.4 UTSW 17 36,771,285 (GRCm39) missense probably damaging 1.00
R9801:H2-M10.4 UTSW 17 36,771,511 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGTGCCTGAGTGGATACATC -3'
(R):5'- ACCTGAAGGGAATGTCACCCTGAG -3'

Sequencing Primer
(F):5'- GATACATCTTTCCTCTATTGAGGCAG -3'
(R):5'- AATGTCACCCTGAGGTGCTG -3'
Posted On 2013-05-09