Incidental Mutation 'R1833:H2-Q7'
ID 204993
Institutional Source Beutler Lab
Gene Symbol H2-Q7
Ensembl Gene ENSMUSG00000060550
Gene Name histocompatibility 2, Q region locus 7
Synonyms Qa7, Ped, H-2Q7, Qa-7
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.336) question?
Stock # R1833 (G1)
Quality Score 120
Status Validated
Chromosome 17
Chromosomal Location 35658131-35662749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35658675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 104 (S104R)
Ref Sequence ENSEMBL: ENSMUSP00000112297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071951] [ENSMUST00000076256] [ENSMUST00000078205] [ENSMUST00000116598]
AlphaFold P14429
Predicted Effect probably benign
Transcript: ENSMUST00000071951
AA Change: S104R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071843
Gene: ENSMUSG00000060550
AA Change: S104R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 3e-97 PFAM
IGc1 219 290 7.68e-23 SMART
transmembrane domain 308 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076256
AA Change: S104R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075606
Gene: ENSMUSG00000060550
AA Change: S104R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 3.3e-98 PFAM
IGc1 219 290 7.68e-23 SMART
low complexity region 310 325 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078205
AA Change: S104R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077335
Gene: ENSMUSG00000060550
AA Change: S104R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 1.9e-97 PFAM
IGc1 219 290 7.68e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116598
AA Change: S104R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000112297
Gene: ENSMUSG00000060550
AA Change: S104R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 8.5e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173788
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
MGI Phenotype PHENOTYPE: This locus controls a widely distributed lymphocyte antigen recognized by monoclonal antibody, serology or CTL assay. Using all assays, antigen is present (allele a) in C57BL/6, DBA/1, DBA/2 and SWR and absent (allele b) in AKR, C3H and BALB/c. Other strain allele typings were assay-dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P possibly damaging Het
Other mutations in H2-Q7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0735:H2-Q7 UTSW 17 35,659,162 (GRCm39) critical splice donor site probably null
R0839:H2-Q7 UTSW 17 35,658,688 (GRCm39) missense probably damaging 1.00
R1737:H2-Q7 UTSW 17 35,658,602 (GRCm39) missense probably damaging 1.00
R1831:H2-Q7 UTSW 17 35,658,675 (GRCm39) missense probably benign 0.00
R1832:H2-Q7 UTSW 17 35,658,675 (GRCm39) missense probably benign 0.00
R2047:H2-Q7 UTSW 17 35,659,123 (GRCm39) missense probably damaging 1.00
R4498:H2-Q7 UTSW 17 35,658,506 (GRCm39) missense probably damaging 1.00
R4657:H2-Q7 UTSW 17 35,661,735 (GRCm39) missense possibly damaging 0.86
R4784:H2-Q7 UTSW 17 35,658,914 (GRCm39) missense probably damaging 1.00
R5387:H2-Q7 UTSW 17 35,658,518 (GRCm39) missense probably damaging 1.00
R5499:H2-Q7 UTSW 17 35,658,916 (GRCm39) nonsense probably null
R6410:H2-Q7 UTSW 17 35,659,152 (GRCm39) missense probably benign 0.13
R6457:H2-Q7 UTSW 17 35,658,655 (GRCm39) missense probably damaging 1.00
R6720:H2-Q7 UTSW 17 35,661,654 (GRCm39) missense probably benign 0.05
R6943:H2-Q7 UTSW 17 35,658,560 (GRCm39) missense probably benign 0.30
R7069:H2-Q7 UTSW 17 35,659,007 (GRCm39) missense probably damaging 0.98
R7086:H2-Q7 UTSW 17 35,658,461 (GRCm39) missense probably damaging 1.00
R7303:H2-Q7 UTSW 17 35,659,037 (GRCm39) missense probably benign 0.13
R7520:H2-Q7 UTSW 17 35,661,686 (GRCm39) missense probably benign 0.04
R7603:H2-Q7 UTSW 17 35,658,939 (GRCm39) missense probably damaging 1.00
R7747:H2-Q7 UTSW 17 35,659,037 (GRCm39) missense probably benign 0.13
R8169:H2-Q7 UTSW 17 35,658,910 (GRCm39) nonsense probably null
Z1177:H2-Q7 UTSW 17 35,661,476 (GRCm39) missense probably damaging 0.99
Z1177:H2-Q7 UTSW 17 35,658,138 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GTTCATCTCTGTCGGCTACGTG -3'
(R):5'- TCCACTGGAGTGTGTGAGAG -3'

Sequencing Primer
(F):5'- TGGACGACACGCAGTTC -3'
(R):5'- ACCCAGTGGTCAGTCCCTC -3'
Posted On 2014-06-23