Incidental Mutation 'IGL01448:H2-Q1'
ID84537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol H2-Q1
Ensembl Gene ENSMUSG00000079507
Gene Namehistocompatibility 2, Q region locus 1
SynonymsQ1d, H-2Q1, Q1b, Q1, Q1k
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01448
Quality Score
Status
Chromosome17
Chromosomal Location35320405-35325099 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 35323461 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073208] [ENSMUST00000105041]
Predicted Effect probably benign
Transcript: ENSMUST00000073208
SMART Domains Protein: ENSMUSP00000072942
Gene: ENSMUSG00000079507

DomainStartEndE-ValueType
Pfam:MHC_I 22 200 4.7e-88 PFAM
IGc1 219 290 8.23e-23 SMART
transmembrane domain 306 328 N/A INTRINSIC
Pfam:MHC_I_C 340 367 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105041
SMART Domains Protein: ENSMUSP00000100662
Gene: ENSMUSG00000079507

DomainStartEndE-ValueType
Pfam:MHC_I 22 200 2.3e-90 PFAM
IGc1 219 290 8.23e-23 SMART
transmembrane domain 306 328 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172994
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 probably benign Het
2610303G11Rik T A 9: 98,186,709 noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 E34K probably damaging Het
Alms1 T A 6: 85,677,899 N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 L2835P probably damaging Het
Ctns A T 11: 73,188,722 V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 R429G probably damaging Het
Ddx11 T C 17: 66,134,137 V218A probably damaging Het
Eftud2 G A 11: 102,865,563 probably benign Het
Erich1 G T 8: 14,078,853 T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 E215G probably damaging Het
Fam184a G T 10: 53,698,949 A188E probably benign Het
Fign A G 2: 63,979,688 S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 S33P probably damaging Het
Glb1 A G 9: 114,450,677 probably benign Het
Helz2 T C 2: 181,233,977 T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 E32G probably damaging Het
Ints5 C T 19: 8,895,487 P270L possibly damaging Het
Itga7 G T 10: 128,949,468 E847* probably null Het
Kcns3 A C 12: 11,091,643 S352A possibly damaging Het
Kiz A G 2: 146,863,801 K94E probably benign Het
Lin7b C T 7: 45,369,200 V12M probably damaging Het
Myo18b A T 5: 112,811,704 I1409N probably damaging Het
Myo5b A G 18: 74,644,090 H407R probably damaging Het
Nelfa T C 5: 33,898,802 T506A probably damaging Het
Olfr497 T A 7: 108,423,028 Y152* probably null Het
Olfr763 A G 10: 129,011,860 T192A probably damaging Het
Olfr816 A G 10: 129,912,245 I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 M136K probably damaging Het
Pclo A C 5: 14,676,394 probably benign Het
Pes1 G A 11: 3,977,979 E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 probably benign Het
Rapgef2 C T 3: 79,103,962 probably null Het
Rapgef2 T C 3: 79,068,937 M1521V probably benign Het
Reln A G 5: 22,040,405 V735A probably benign Het
Slc2a4 A G 11: 69,945,076 S316P possibly damaging Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Spata31d1a T A 13: 59,701,559 R918S probably benign Het
St3gal4 T C 9: 35,052,331 K227R probably benign Het
Stra6l T A 4: 45,864,864 probably null Het
Stxbp5l T C 16: 37,215,979 I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 T231A probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tnks A G 8: 34,839,982 Y1138H probably damaging Het
Vezt T A 10: 93,996,857 I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zbed3 A G 13: 95,336,634 K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 Q176L possibly damaging Het
Other mutations in H2-Q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:H2-Q1 APN 17 35323529 missense probably benign 0.26
PIT4531001:H2-Q1 UTSW 17 35320916 missense probably benign 0.37
PIT4531001:H2-Q1 UTSW 17 35321079 missense probably damaging 0.99
R0380:H2-Q1 UTSW 17 35323078 missense probably damaging 1.00
R0570:H2-Q1 UTSW 17 35321397 missense possibly damaging 0.94
R1935:H2-Q1 UTSW 17 35323493 missense probably benign 0.08
R4352:H2-Q1 UTSW 17 35320943 missense possibly damaging 0.52
R4672:H2-Q1 UTSW 17 35320930 missense probably damaging 1.00
R4774:H2-Q1 UTSW 17 35321266 splice site probably benign
R5941:H2-Q1 UTSW 17 35321356 missense probably damaging 1.00
R6825:H2-Q1 UTSW 17 35321052 missense probably damaging 1.00
R7136:H2-Q1 UTSW 17 35320627 critical splice donor site probably null
R7303:H2-Q1 UTSW 17 35321336 missense probably benign 0.00
Posted On2013-11-11