Incidental Mutation 'R5829:Iqch'
ID 450328
Institutional Source Beutler Lab
Gene Symbol Iqch
Ensembl Gene ENSMUSG00000037801
Gene Name IQ motif containing H
Synonyms 4921504K03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R5829 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 63328737-63509775 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 63332639 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 null
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 null
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 noncoding transcript
Transcript: ENSMUST00000126238
Predicted Effect probably null
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 null
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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187259
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Atp6v1e2 T C 17: 87,252,144 (GRCm39) R85G probably benign Het
Bmpr1b T C 3: 141,550,918 (GRCm39) H391R probably benign Het
Camsap3 A G 8: 3,647,899 (GRCm39) H69R probably damaging Het
Cimip2a G A 2: 25,108,869 (GRCm39) probably null Het
Col12a1 C T 9: 79,540,955 (GRCm39) G2391R probably damaging Het
Dab2ip ATCCT ATCCTCCT 2: 35,597,787 (GRCm39) probably benign Het
Epha4 G A 1: 77,421,631 (GRCm39) L284F probably benign Het
Fat4 T C 3: 39,061,454 (GRCm39) S4346P probably damaging Het
Fbxo22 T A 9: 55,125,596 (GRCm39) probably null Het
Gcc1 C A 6: 28,419,690 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,674 (GRCm39) S394P probably damaging Het
Gdf9 C T 11: 53,324,516 (GRCm39) T95M probably benign Het
Gpr179 G A 11: 97,226,524 (GRCm39) S1877L probably benign Het
Gtf2i A G 5: 134,292,547 (GRCm39) V380A probably damaging Het
Il17c G A 8: 123,148,970 (GRCm39) R38Q probably damaging Het
Il17rd G A 14: 26,814,042 (GRCm39) probably null Het
Lrrc37 C T 11: 103,432,712 (GRCm39) E1310K possibly damaging Het
Mpp4 A T 1: 59,168,101 (GRCm39) S456R probably damaging Het
Nek10 T C 14: 14,865,404 (GRCm38) Y601H probably damaging Het
Nrxn2 C T 19: 6,540,879 (GRCm39) P936L probably benign Het
Or8b44 T A 9: 38,410,545 (GRCm39) Y193* probably null Het
Pcdhb9 T C 18: 37,534,942 (GRCm39) V312A probably damaging Het
Pex5l T C 3: 33,060,139 (GRCm39) T211A probably benign Het
Pik3c2a T C 7: 115,972,049 (GRCm39) T794A probably benign Het
Pla2g6 A G 15: 79,171,893 (GRCm39) F710L possibly damaging Het
Repin1 A T 6: 48,571,766 (GRCm39) probably benign Het
Rev3l A T 10: 39,682,902 (GRCm39) E340V probably damaging Het
Ryr3 A G 2: 112,690,076 (GRCm39) S1158P probably damaging Het
S100a16 A T 3: 90,449,454 (GRCm39) Q43L possibly damaging Het
Scg2 A G 1: 79,414,637 (GRCm39) S29P probably damaging Het
Sfrp5 T C 19: 42,190,095 (GRCm39) Y119C probably damaging Het
Sh3tc2 A G 18: 62,123,986 (GRCm39) T916A probably benign Het
Smpd3 A G 8: 106,991,512 (GRCm39) V347A probably benign Het
Tmem212 C A 3: 27,939,081 (GRCm39) C135F possibly damaging Het
Unc13c T A 9: 73,600,650 (GRCm39) N1365Y probably benign Het
Usp13 G T 3: 32,940,672 (GRCm39) G395C possibly damaging Het
Vmn2r68 T C 7: 84,886,812 (GRCm39) N34S 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
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
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'- AGCCTGGCTTTCAAAATGGC -3'
(R):5'- CCCTGAAGATTGCCACCTTG -3'

Sequencing Primer
(F):5'- CCTGGCTTTCAAAATGGCAGTGAG -3'
(R):5'- AAGATTGCCACCTTGTGAGATTG -3'
Posted On 2016-12-20