Incidental Mutation 'R5027:Iqch'
ID 391437
Institutional Source Beutler Lab
Gene Symbol Iqch
Ensembl Gene ENSMUSG00000037801
Gene Name IQ motif containing H
Synonyms 4921504K03Rik
MMRRC Submission 042618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5027 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 63328737-63509775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63432294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 367 (E367G)
Ref Sequence ENSEMBL: ENSMUSP00000128482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042322] [ENSMUST00000080527] [ENSMUST00000163624] [ENSMUST00000163982] [ENSMUST00000171243]
AlphaFold Q9D2K4
Predicted Effect possibly damaging
Transcript: ENSMUST00000042322
AA Change: E367G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: E367G

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 possibly damaging
Transcript: ENSMUST00000080527
AA Change: E367G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: E367G

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: ENSMUST00000126238
Predicted Effect possibly damaging
Transcript: ENSMUST00000163624
AA Change: E367G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: E367G

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 possibly damaging
Transcript: ENSMUST00000163982
AA Change: E367G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: E367G

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 possibly damaging
Transcript: ENSMUST00000171243
AA Change: E328G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: E328G

DomainStartEndE-ValueType
low complexity region 218 228 N/A INTRINSIC
IQ 366 388 2.79e0 SMART
low complexity region 440 452 N/A INTRINSIC
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (97/100)
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T G 7: 119,911,505 (GRCm39) I1363R probably benign Het
Abcc1 T C 16: 14,221,917 (GRCm39) probably null Het
Adgrf1 T A 17: 43,614,638 (GRCm39) F241I probably damaging Het
Afg3l1 T C 8: 124,216,553 (GRCm39) M264T probably benign Het
Ankle1 T C 8: 71,861,623 (GRCm39) S434P probably damaging Het
Apoe C T 7: 19,430,940 (GRCm39) A101T probably damaging Het
Apol11a G T 15: 77,401,153 (GRCm39) K213N probably damaging Het
Asap2 A G 12: 21,254,082 (GRCm39) M198V probably damaging Het
Atg4b C T 1: 93,714,297 (GRCm39) A360V probably benign Het
B3gnt5 T A 16: 19,588,444 (GRCm39) V221D probably damaging Het
Baz2b A T 2: 59,928,988 (GRCm39) probably benign Het
Cep350 C A 1: 155,809,100 (GRCm39) W492L probably benign Het
Cln6 A G 9: 62,754,375 (GRCm39) Y139C probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cul9 C T 17: 46,811,708 (GRCm39) E2507K probably damaging Het
Dgkz A T 2: 91,775,888 (GRCm39) V125D probably benign Het
Dnah17 T C 11: 117,993,365 (GRCm39) M1127V probably benign Het
Dnajb1 C A 8: 84,336,732 (GRCm39) D67E probably benign Het
Dync1li1 A G 9: 114,542,612 (GRCm39) D258G probably damaging Het
Egflam G T 15: 7,283,125 (GRCm39) P311T probably benign Het
Fbxw11 T A 11: 32,602,811 (GRCm39) probably benign Het
Fn3krp T G 11: 121,320,274 (GRCm39) D206E probably benign Het
Fsip2 A G 2: 82,819,477 (GRCm39) H5070R possibly damaging Het
Gm6605 T C 7: 38,149,683 (GRCm39) noncoding transcript Het
Gna14 C A 19: 16,580,636 (GRCm39) T158K probably benign Het
Gstt2 A T 10: 75,667,726 (GRCm39) I243N probably damaging Het
Haus6 C T 4: 86,523,933 (GRCm39) D50N possibly damaging Het
Hcrtr2 A G 9: 76,230,578 (GRCm39) I70T probably benign Het
Herc1 G A 9: 66,380,811 (GRCm39) V3563I probably benign Het
Herc1 A T 9: 66,411,900 (GRCm39) I4707F probably damaging Het
Hic2 C T 16: 17,076,611 (GRCm39) A480V possibly damaging Het
Hsd17b3 A G 13: 64,210,720 (GRCm39) Y212H probably damaging Het
Hspa5 A G 2: 34,665,827 (GRCm39) K557R probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lars2 A G 9: 123,270,560 (GRCm39) M551V probably benign Het
Lbp T C 2: 158,150,646 (GRCm39) I57T possibly damaging Het
Liat1 A G 11: 75,891,047 (GRCm39) K54E probably damaging Het
Litaf T C 16: 10,778,868 (GRCm39) Q142R possibly damaging Het
Lpar5 G C 6: 125,059,110 (GRCm39) R277P possibly damaging Het
Muc6 T A 7: 141,216,349 (GRCm39) I2710F probably benign Het
Myo7b T A 18: 32,108,265 (GRCm39) I1199F probably benign Het
Naca A C 10: 127,883,990 (GRCm39) E2140D possibly damaging Het
Nup214 G T 2: 31,881,329 (GRCm39) G396C probably damaging Het
Or2v1 A T 11: 49,025,451 (GRCm39) Q144L probably benign Het
Or5aq7 T A 2: 86,938,150 (GRCm39) I194F probably benign Het
Or5j3 G A 2: 86,128,540 (GRCm39) V127I possibly damaging Het
Or7g33 A G 9: 19,448,573 (GRCm39) Y218H probably damaging Het
Or8b57 A T 9: 40,003,690 (GRCm39) S187T probably damaging Het
P4htm A G 9: 108,456,492 (GRCm39) V436A probably benign Het
Pfkm A G 15: 98,017,307 (GRCm39) I117V possibly damaging Het
Phlpp1 T G 1: 106,209,201 (GRCm39) V518G probably damaging Het
Piwil4 G A 9: 14,621,240 (GRCm39) L598F probably damaging Het
Polr1b T G 2: 128,965,803 (GRCm39) I815R possibly damaging Het
Ppef2 T C 5: 92,382,150 (GRCm39) N515S probably damaging Het
Prp2rt A G 13: 97,235,648 (GRCm39) I33T probably benign Het
Prpsap2 G T 11: 61,631,830 (GRCm39) probably null Het
Rab27a A G 9: 73,002,695 (GRCm39) D208G probably benign Het
Ralgds A G 2: 28,442,102 (GRCm39) probably null Het
Raph1 C A 1: 60,535,436 (GRCm39) C540F probably damaging Het
Rbsn A G 6: 92,175,231 (GRCm39) L281P probably damaging Het
Rigi T A 4: 40,208,845 (GRCm39) M756L probably benign Het
Rmdn1 G T 4: 19,588,533 (GRCm39) G110* probably null Het
Rph3a T A 5: 121,092,512 (GRCm39) E363V possibly damaging Het
Serpina16 G T 12: 103,641,262 (GRCm39) Y154* probably null Het
Sh2d3c G A 2: 32,634,814 (GRCm39) E198K possibly damaging Het
Shank2 C A 7: 143,812,842 (GRCm39) Y663* probably null Het
Sharpin T C 15: 76,234,225 (GRCm39) probably benign Het
Slitrk1 G A 14: 109,149,740 (GRCm39) P324S probably benign Het
Sorbs2 T A 8: 46,199,571 (GRCm39) probably null Het
Spag16 C T 1: 69,962,963 (GRCm39) probably benign Het
Sycp2l A T 13: 41,283,247 (GRCm39) probably null Het
Synj1 A T 16: 90,737,407 (GRCm39) probably null Het
Sytl1 T C 4: 132,983,530 (GRCm39) probably benign Het
Tkfc A T 19: 10,570,023 (GRCm39) probably null Het
Tnn T C 1: 159,972,781 (GRCm39) T274A probably damaging Het
Trav14-2 T A 14: 53,878,505 (GRCm39) W35R probably damaging Het
Trim72 T C 7: 127,607,137 (GRCm39) M222T probably damaging Het
Trim9 A G 12: 70,393,482 (GRCm39) V154A probably damaging Het
Ttc7b T C 12: 100,268,001 (GRCm39) Y266C probably damaging Het
Uchl3 T A 14: 101,903,982 (GRCm39) I43K possibly damaging Het
Vdac1 T A 11: 52,279,305 (GRCm39) N269K possibly damaging Het
Wdr72 T A 9: 74,053,258 (GRCm39) W187R probably damaging Het
Zfp30 T A 7: 29,492,491 (GRCm39) C248* probably null Het
Zfp940 A T 7: 29,550,381 (GRCm39) probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATGTAAAAGCCACGCCAGG -3'
(R):5'- GTTTACAACGGCTGTGTAGAC -3'

Sequencing Primer
(F):5'- GGCCCATTTCTTCTGGCGATAAG -3'
(R):5'- TGTGTAGACAGGACAGCCC -3'
Posted On 2016-06-06