Incidental Mutation 'R7541:Iqch'
ID 583896
Institutional Source Beutler Lab
Gene Symbol Iqch
Ensembl Gene ENSMUSG00000037801
Gene Name IQ motif containing H
Synonyms 4921504K03Rik
MMRRC Submission 045613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7541 (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 63352803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 955 (V955I)
Ref Sequence ENSEMBL: ENSMUSP00000047953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042322] [ENSMUST00000080527] [ENSMUST00000163624] [ENSMUST00000163982] [ENSMUST00000171243]
AlphaFold Q9D2K4
Predicted Effect possibly damaging
Transcript: ENSMUST00000042322
AA Change: V955I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V955I

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 probably damaging
Transcript: ENSMUST00000171243
AA Change: V916I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V916I

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: 99.2%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 G A 2: 155,416,610 (GRCm39) probably null Het
Adamts10 G A 17: 33,750,590 (GRCm39) R210H probably benign Het
Als2 T C 1: 59,206,775 (GRCm39) probably null Het
Aplp2 A T 9: 31,063,652 (GRCm39) M652K possibly damaging Het
Atrn A G 2: 130,803,491 (GRCm39) I560M possibly damaging Het
Bicc1 T C 10: 70,782,434 (GRCm39) D602G possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cd200l2 T A 16: 45,348,855 (GRCm39) T106S possibly damaging Het
Cdh4 A G 2: 179,086,603 (GRCm39) probably null Het
Clasp1 T A 1: 118,470,727 (GRCm39) probably null Het
Col6a6 A G 9: 105,644,523 (GRCm39) I1255T probably damaging Het
Comp G T 8: 70,834,000 (GRCm39) V672L probably damaging Het
Dbnl T G 11: 5,745,486 (GRCm39) D122E probably damaging Het
Dgkz G A 2: 91,773,020 (GRCm39) R346C probably damaging Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Elmo3 T C 8: 106,033,346 (GRCm39) I121T probably damaging Het
Fam184b A G 5: 45,699,574 (GRCm39) L614P probably damaging Het
Fbh1 T C 2: 11,754,348 (GRCm39) R797G probably benign Het
Fcgbpl1 T A 7: 27,843,681 (GRCm39) C856* probably null Het
Gata6 A G 18: 11,059,108 (GRCm39) T392A probably damaging Het
Gm29609 A G 5: 31,311,576 (GRCm39) F855S probably benign Het
Gm3424 T C 14: 17,337,195 (GRCm39) N88D possibly damaging Het
Gnas T A 2: 174,139,892 (GRCm39) S80T unknown Het
Hsd17b14 C A 7: 45,215,570 (GRCm39) P190Q probably damaging Het
Kcnt2 T C 1: 140,304,122 (GRCm39) V164A probably benign Het
Krt87 A G 15: 101,336,515 (GRCm39) L46P probably damaging Het
Lef1 A G 3: 130,984,748 (GRCm39) M237V probably benign Het
Lmbr1l A T 15: 98,807,267 (GRCm39) probably null Het
Lrrc49 T C 9: 60,517,686 (GRCm39) I408V probably damaging Het
Luc7l3 T C 11: 94,186,791 (GRCm39) S365G unknown Het
Marchf2 A T 17: 33,922,032 (GRCm39) C109* probably null Het
Metrnl T A 11: 121,606,796 (GRCm39) C284S probably damaging Het
Mmachc G A 4: 116,563,082 (GRCm39) T91I probably benign Het
Mrps7 T G 11: 115,497,696 (GRCm39) M187R probably damaging Het
Ncapd3 A G 9: 26,978,336 (GRCm39) E845G probably damaging Het
Nscme3l G A 19: 5,553,439 (GRCm39) P114L probably benign Het
Ooep T A 9: 78,285,347 (GRCm39) T90S possibly damaging Het
Or13c25 A T 4: 52,911,376 (GRCm39) D139E probably benign Het
Or2y1g T A 11: 49,171,160 (GRCm39) F62I probably damaging Het
Pcdhb18 A T 18: 37,624,662 (GRCm39) D664V probably damaging Het
Pigz T C 16: 31,763,949 (GRCm39) S336P probably benign Het
Pou2f2 A T 7: 24,815,553 (GRCm39) D71E probably benign Het
Reep6 G T 10: 80,171,033 (GRCm39) R303L possibly damaging Het
Rmdn2 A T 17: 79,935,297 (GRCm39) S137C Het
Rnf220 A T 4: 117,347,127 (GRCm39) L95H probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Stxbp1 A T 2: 32,708,517 (GRCm39) S83T probably damaging Het
Tcstv7b A T 13: 120,702,515 (GRCm39) M104L probably benign Het
Trappc11 T C 8: 47,958,617 (GRCm39) probably null Het
Ttn G T 2: 76,621,645 (GRCm39) D15598E probably damaging Het
Vav2 T A 2: 27,165,014 (GRCm39) R645W probably damaging Het
Vmn1r169 T A 7: 23,277,412 (GRCm39) V268D probably benign Het
Zp2 A T 7: 119,735,279 (GRCm39) C365S 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
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
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'- CTTTTGAATACACCCACCCAATC -3'
(R):5'- TGACCTTTAGGAAATAGCATCCA -3'

Sequencing Primer
(F):5'- CTTAAAGAACATCTCTGTGAAGGAG -3'
(R):5'- GGGTCCCTAGTTATGACAAATGTTCC -3'
Posted On 2019-10-17