Incidental Mutation 'R0002:Iqch'
ID 8066
Institutional Source Beutler Lab
Gene Symbol Iqch
Ensembl Gene ENSMUSG00000037801
Gene Name IQ motif containing H
Synonyms 4921504K03Rik
MMRRC Submission 038298-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0002 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 63328737-63509775 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 63502025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042322] [ENSMUST00000080527] [ENSMUST00000163624] [ENSMUST00000163982] [ENSMUST00000171243]
AlphaFold Q9D2K4
Predicted Effect probably benign
Transcript: ENSMUST00000042322
SMART Domains Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801

DomainStartEndE-ValueType
low complexity region 257 267 N/A INTRINSIC
IQ 405 427 2.79e0 SMART
low complexity region 479 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080527
SMART Domains Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801

DomainStartEndE-ValueType
low complexity region 257 267 N/A INTRINSIC
IQ 405 427 2.79e0 SMART
low complexity region 479 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163624
SMART Domains Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801

DomainStartEndE-ValueType
low complexity region 257 267 N/A INTRINSIC
IQ 405 427 2.79e0 SMART
low complexity region 479 491 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163982
SMART Domains Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801

DomainStartEndE-ValueType
low complexity region 257 267 N/A INTRINSIC
IQ 405 427 2.79e0 SMART
low complexity region 479 491 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170960
Predicted Effect probably benign
Transcript: ENSMUST00000171243
SMART Domains Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801

DomainStartEndE-ValueType
low complexity region 218 228 N/A INTRINSIC
IQ 366 388 2.79e0 SMART
low complexity region 440 452 N/A INTRINSIC
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 79.5%
  • 10x: 62.0%
  • 20x: 53.1%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,176,649 (GRCm39) probably benign Het
Bcl2 T C 1: 106,640,241 (GRCm39) R124G possibly damaging Het
Bri3 G T 5: 144,181,312 (GRCm39) C6F probably benign Het
Chn2 A G 6: 54,250,098 (GRCm39) N69S probably benign Het
Col5a3 T A 9: 20,721,152 (GRCm39) probably null Het
Dhx36 A C 3: 62,388,260 (GRCm39) L625W probably damaging Het
Exph5 G T 9: 53,285,256 (GRCm39) R779I probably damaging Het
F5 T C 1: 164,029,200 (GRCm39) F1733S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Pate14 A T 9: 36,548,655 (GRCm39) D59E probably damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pik3c2g A G 6: 139,714,471 (GRCm39) T208A probably benign Het
Prkag3 T C 1: 74,783,947 (GRCm39) D312G probably damaging Het
Slc26a5 T A 5: 22,019,981 (GRCm39) I530F probably damaging Het
Tacc2 T A 7: 130,223,515 (GRCm39) S67T probably damaging Het
Tas2r113 T A 6: 132,870,742 (GRCm39) S257T probably benign Het
Tnr T C 1: 159,701,770 (GRCm39) Y624H probably damaging Het
Ubr4 T C 4: 139,118,211 (GRCm39) L112P probably damaging Het
Other mutations in Iqch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Iqch APN 9 63,387,936 (GRCm39) missense probably damaging 0.96
IGL01472:Iqch APN 9 63,455,216 (GRCm39) missense probably benign 0.02
IGL01553:Iqch APN 9 63,408,199 (GRCm39) missense probably benign 0.00
IGL01611:Iqch APN 9 63,403,519 (GRCm39) critical splice acceptor site probably null
IGL02608:Iqch APN 9 63,329,110 (GRCm39) unclassified probably benign
IGL03060:Iqch APN 9 63,432,196 (GRCm39) missense probably damaging 1.00
IGL03154:Iqch APN 9 63,361,964 (GRCm39) missense probably damaging 0.97
museum UTSW 9 63,432,421 (GRCm39) nonsense probably null
I2288:Iqch UTSW 9 63,408,172 (GRCm39) missense probably benign 0.01
R0350:Iqch UTSW 9 63,408,158 (GRCm39) missense probably benign 0.43
R0532:Iqch UTSW 9 63,415,514 (GRCm39) splice site probably benign
R0629:Iqch UTSW 9 63,332,664 (GRCm39) missense probably benign 0.22
R0710:Iqch UTSW 9 63,432,418 (GRCm39) missense probably benign
R0766:Iqch UTSW 9 63,389,965 (GRCm39) missense probably benign 0.02
R1797:Iqch UTSW 9 63,495,659 (GRCm39) missense possibly damaging 0.58
R1856:Iqch UTSW 9 63,441,619 (GRCm39) splice site probably null
R1954:Iqch UTSW 9 63,455,298 (GRCm39) missense probably benign 0.00
R1955:Iqch UTSW 9 63,455,298 (GRCm39) missense probably benign 0.00
R2184:Iqch UTSW 9 63,432,351 (GRCm39) missense probably damaging 0.99
R2264:Iqch UTSW 9 63,419,581 (GRCm39) missense probably benign 0.27
R4614:Iqch UTSW 9 63,389,863 (GRCm39) missense probably benign
R4643:Iqch UTSW 9 63,502,084 (GRCm39) missense probably benign 0.00
R4654:Iqch UTSW 9 63,432,195 (GRCm39) missense probably damaging 0.99
R4665:Iqch UTSW 9 63,352,853 (GRCm39) missense probably damaging 1.00
R5027:Iqch UTSW 9 63,432,294 (GRCm39) missense possibly damaging 0.87
R5042:Iqch UTSW 9 63,403,516 (GRCm39) missense possibly damaging 0.48
R5551:Iqch UTSW 9 63,403,535 (GRCm39) splice site probably null
R5829:Iqch UTSW 9 63,332,639 (GRCm39) critical splice donor site probably null
R5878:Iqch UTSW 9 63,455,272 (GRCm39) missense probably damaging 0.99
R6816:Iqch UTSW 9 63,388,041 (GRCm39) missense probably benign 0.02
R6930:Iqch UTSW 9 63,387,856 (GRCm39) missense possibly damaging 0.79
R7000:Iqch UTSW 9 63,361,892 (GRCm39) missense probably benign
R7026:Iqch UTSW 9 63,432,421 (GRCm39) nonsense probably null
R7066:Iqch UTSW 9 63,432,027 (GRCm39) missense probably benign 0.24
R7111:Iqch UTSW 9 63,419,599 (GRCm39) missense possibly damaging 0.79
R7129:Iqch UTSW 9 63,329,191 (GRCm39) missense probably benign 0.09
R7177:Iqch UTSW 9 63,329,117 (GRCm39) makesense probably null
R7252:Iqch UTSW 9 63,419,518 (GRCm39) critical splice donor site probably null
R7485:Iqch UTSW 9 63,415,599 (GRCm39) missense possibly damaging 0.47
R7541:Iqch UTSW 9 63,352,803 (GRCm39) missense possibly damaging 0.95
R7805:Iqch UTSW 9 63,329,002 (GRCm39) splice site probably null
R7973:Iqch UTSW 9 63,432,228 (GRCm39) missense possibly damaging 0.79
R8113:Iqch UTSW 9 63,361,855 (GRCm39) missense probably benign 0.00
R8170:Iqch UTSW 9 63,336,312 (GRCm39) missense probably damaging 1.00
R8218:Iqch UTSW 9 63,389,915 (GRCm39) missense possibly damaging 0.60
R8687:Iqch UTSW 9 63,432,067 (GRCm39) missense probably damaging 1.00
R8811:Iqch UTSW 9 63,452,195 (GRCm39) missense possibly damaging 0.92
R9020:Iqch UTSW 9 63,432,526 (GRCm39) missense probably benign
R9194:Iqch UTSW 9 63,479,961 (GRCm39) missense probably benign 0.00
R9232:Iqch UTSW 9 63,329,200 (GRCm39) missense probably benign 0.00
R9532:Iqch UTSW 9 63,389,935 (GRCm39) missense
X0066:Iqch UTSW 9 63,336,340 (GRCm39) missense probably damaging 0.98
Posted On 2012-11-20