Incidental Mutation 'R7129:Iqch'
ID 552528
Institutional Source Beutler Lab
Gene Symbol Iqch
Ensembl Gene ENSMUSG00000037801
Gene Name IQ motif containing H
Synonyms 4921504K03Rik
MMRRC Submission 045214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7129 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 63328737-63509775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63329191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1048 (V1048I)
Ref Sequence ENSEMBL: ENSMUSP00000047953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042322] [ENSMUST00000080527] [ENSMUST00000163624] [ENSMUST00000163982] [ENSMUST00000171243]
AlphaFold Q9D2K4
Predicted Effect probably benign
Transcript: ENSMUST00000042322
AA Change: V1048I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V1048I

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 unknown
Transcript: ENSMUST00000080527
AA Change: V814I
SMART Domains Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: V814I

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
AA Change: V1007I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: V1007I

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
AA Change: V1019I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: V1019I

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: ENSMUST00000171243
AA Change: V1009I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V1009I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,209,199 (GRCm39) E443G probably damaging Het
2700049A03Rik A G 12: 71,263,004 (GRCm39) probably null Het
3110082I17Rik A G 5: 139,349,738 (GRCm39) Y104H probably damaging Het
Abcg4 T C 9: 44,190,681 (GRCm39) K282E probably benign Het
Adamts17 T C 7: 66,770,758 (GRCm39) S956P probably damaging Het
Adh1 T C 3: 137,986,235 (GRCm39) V74A probably damaging Het
Akt1 A T 12: 112,626,083 (GRCm39) M63K probably benign Het
Arfrp1 G A 2: 181,001,344 (GRCm39) R177* probably null Het
Arl11 A G 14: 61,548,346 (GRCm39) E52G possibly damaging Het
BC051019 T C 7: 109,319,825 (GRCm39) S10G Het
Bfsp2 T A 9: 103,357,118 (GRCm39) E103V probably damaging Het
Bms1 G T 6: 118,380,122 (GRCm39) C728* probably null Het
Cachd1 T G 4: 100,775,263 (GRCm39) N159K probably null Het
Cd38 A G 5: 44,067,651 (GRCm39) N294S probably benign Het
Cfap54 T C 10: 92,852,433 (GRCm39) N891S probably benign Het
Chsy3 A T 18: 59,543,370 (GRCm39) H836L probably damaging Het
Cldn16 A T 16: 26,301,388 (GRCm39) D232V probably damaging Het
Dhx33 A T 11: 70,884,689 (GRCm39) I425N probably damaging Het
Dock4 A G 12: 40,878,878 (GRCm39) N1506D probably damaging Het
Dok7 T C 5: 35,236,392 (GRCm39) S227P probably damaging Het
Elf2 T C 3: 51,168,432 (GRCm39) R201G probably damaging Het
Elp1 T C 4: 56,787,944 (GRCm39) H329R probably damaging Het
Etaa1 T C 11: 17,890,339 (GRCm39) R841G possibly damaging Het
Exoc4 T C 6: 33,948,934 (GRCm39) Y926H probably damaging Het
Fras1 A G 5: 96,929,143 (GRCm39) H3849R probably benign Het
Hapln3 C T 7: 78,771,572 (GRCm39) G106R probably damaging Het
Hmcn1 A C 1: 150,452,961 (GRCm39) probably null Het
Ifitm7 A T 16: 13,801,600 (GRCm39) I53N possibly damaging Het
Il6ra T C 3: 89,778,554 (GRCm39) N433D probably damaging Het
Kif20a A G 18: 34,765,588 (GRCm39) T862A probably benign Het
Mcrs1 G A 15: 99,146,609 (GRCm39) L141F probably damaging Het
Nkx3-2 A G 5: 41,919,017 (GRCm39) S324P probably damaging Het
Nmi A T 2: 51,845,936 (GRCm39) probably null Het
Nufip1 A G 14: 76,372,325 (GRCm39) K480E possibly damaging Het
Oit3 T A 10: 59,264,166 (GRCm39) I323F probably damaging Het
Or2ag17 T C 7: 106,389,690 (GRCm39) K173E probably benign Het
Or5b98 A T 19: 12,931,478 (GRCm39) H175L possibly damaging Het
Pcdha11 A G 18: 37,140,291 (GRCm39) E640G probably benign Het
Phip C T 9: 82,759,353 (GRCm39) V1366I probably damaging Het
Plin5 T C 17: 56,422,174 (GRCm39) M162V probably null Het
Podxl2 A G 6: 88,820,487 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rab4a A T 8: 124,554,069 (GRCm39) D40V probably benign Het
Scn7a A G 2: 66,530,537 (GRCm39) F603L probably benign Het
Slfn5 A T 11: 82,851,976 (GRCm39) K701* probably null Het
Speer4f2 A G 5: 17,582,446 (GRCm39) D223G Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tas2r117 A T 6: 132,780,350 (GRCm39) T163S probably benign Het
Tecta T C 9: 42,259,287 (GRCm39) D1532G probably damaging Het
Tmem63a T C 1: 180,782,441 (GRCm39) I146T probably damaging Het
Ttn C A 2: 76,646,515 (GRCm39) G12844W probably damaging Het
Usp22 T C 11: 61,053,775 (GRCm39) I190V probably damaging Het
Usp24 T C 4: 106,219,412 (GRCm39) I536T probably damaging Het
Vmn1r23 A G 6: 57,903,061 (GRCm39) V239A possibly damaging Het
Vmn1r9 A C 6: 57,048,611 (GRCm39) T229P probably damaging Het
Zbtb21 AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC 16: 97,752,887 (GRCm39) probably benign Het
Zbtb8a G C 4: 129,254,188 (GRCm39) A102G probably damaging Het
Zfp51 T C 17: 21,681,971 (GRCm39) W57R 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
R0002:Iqch UTSW 9 63,502,025 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGGGTTCTTAGCATTCACACC -3'
(R):5'- GTAAATTCTTTCAGCCTACTAGCCC -3'

Sequencing Primer
(F):5'- GGGTTCTTAGCATTCACACCGAAAAC -3'
(R):5'- CAAGTCTAACAACCAGTGATGTATGG -3'
Posted On 2019-05-15