Incidental Mutation 'R7050:Iqce'
ID 547524
Institutional Source Beutler Lab
Gene Symbol Iqce
Ensembl Gene ENSMUSG00000036555
Gene Name IQ motif containing E
Synonyms 1700028P05Rik
MMRRC Submission 045241-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7050 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 140648308-140688158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140651846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 375 (S375F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041783] [ENSMUST00000077890]
AlphaFold Q6PCQ0
Predicted Effect probably benign
Transcript: ENSMUST00000041783
AA Change: S709F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
AA Change: S709F

DomainStartEndE-ValueType
low complexity region 33 53 N/A INTRINSIC
low complexity region 128 139 N/A INTRINSIC
coiled coil region 157 190 N/A INTRINSIC
coiled coil region 212 266 N/A INTRINSIC
coiled coil region 287 323 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
coiled coil region 398 491 N/A INTRINSIC
IQ 552 574 1.36e-3 SMART
low complexity region 579 598 N/A INTRINSIC
IQ 614 636 1.63e-1 SMART
low complexity region 734 753 N/A INTRINSIC
low complexity region 754 766 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000077890
AA Change: S692F

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
AA Change: S692F

DomainStartEndE-ValueType
low complexity region 33 53 N/A INTRINSIC
coiled coil region 112 145 N/A INTRINSIC
coiled coil region 167 221 N/A INTRINSIC
coiled coil region 242 278 N/A INTRINSIC
low complexity region 300 317 N/A INTRINSIC
coiled coil region 353 446 N/A INTRINSIC
IQ 507 529 1.36e-3 SMART
low complexity region 534 553 N/A INTRINSIC
IQ 569 591 1.63e-1 SMART
low complexity region 628 647 N/A INTRINSIC
low complexity region 717 736 N/A INTRINSIC
low complexity region 737 749 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129704
AA Change: S375F

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121457
Gene: ENSMUSG00000036555
AA Change: S375F

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
coiled coil region 88 181 N/A INTRINSIC
IQ 186 208 1.36e-3 SMART
low complexity region 213 232 N/A INTRINSIC
IQ 248 270 1.63e-1 SMART
low complexity region 312 331 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,864,544 (GRCm39) A346V possibly damaging Het
Adcy5 A T 16: 35,124,070 (GRCm39) M1250L possibly damaging Het
Arhgef38 T C 3: 132,839,388 (GRCm39) probably benign Het
Ascc3 T A 10: 50,716,446 (GRCm39) I1944N probably benign Het
Cabin1 G T 10: 75,549,376 (GRCm39) P1343Q probably damaging Het
Cbr3 A T 16: 93,487,282 (GRCm39) Q155L possibly damaging Het
Cd44 A G 2: 102,644,482 (GRCm39) V577A probably damaging Het
Coil C T 11: 88,872,014 (GRCm39) T125I possibly damaging Het
Fmo3 T C 1: 162,791,473 (GRCm39) N268S probably damaging Het
Fnip2 T C 3: 79,413,577 (GRCm39) T248A probably damaging Het
Ggt7 G A 2: 155,348,295 (GRCm39) T43I probably benign Het
Gm3250 C A 10: 77,617,814 (GRCm39) C188F possibly damaging Het
Iqgap3 A G 3: 88,006,220 (GRCm39) T544A probably damaging Het
Islr A G 9: 58,065,000 (GRCm39) L169P probably damaging Het
Kdr G T 5: 76,110,780 (GRCm39) T904N probably damaging Het
Mink1 A G 11: 70,503,158 (GRCm39) T974A possibly damaging Het
Mms19 A G 19: 41,939,185 (GRCm39) probably null Het
Mycl T C 4: 122,890,813 (GRCm39) probably null Het
Nab1 A T 1: 52,529,894 (GRCm39) M1K probably null Het
Naip6 C T 13: 100,452,007 (GRCm39) G202R probably damaging Het
Nbeal2 G A 9: 110,457,788 (GRCm39) S2159L probably damaging Het
Neb A T 2: 52,112,888 (GRCm39) M4302K possibly damaging Het
Npy1r A G 8: 67,157,192 (GRCm39) D204G probably benign Het
Or2q1 T A 6: 42,794,504 (GRCm39) V33D possibly damaging Het
Pkdcc T A 17: 83,523,073 (GRCm39) I60N possibly damaging Het
Plcxd3 T C 15: 4,546,200 (GRCm39) V68A probably damaging Het
Prss36 G T 7: 127,543,937 (GRCm39) R145S possibly damaging Het
Pygl C A 12: 70,266,396 (GRCm39) G40C probably damaging Het
Rev1 A G 1: 38,093,352 (GRCm39) L1064P probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3k T C 12: 104,307,403 (GRCm39) F212L possibly damaging Het
Slc16a4 A T 3: 107,208,148 (GRCm39) E219D probably benign Het
Slc6a20b A T 9: 123,427,608 (GRCm39) W434R probably damaging Het
Slco1c1 T A 6: 141,493,652 (GRCm39) F278Y probably damaging Het
Tbx21 T G 11: 97,005,596 (GRCm39) D123A probably benign Het
Trp73 A G 4: 154,165,899 (GRCm39) F35L probably damaging Het
Tspan17 T C 13: 54,943,876 (GRCm39) V135A probably benign Het
Uba2 G A 7: 33,845,687 (GRCm39) Q479* probably null Het
Ubr2 A G 17: 47,272,528 (GRCm39) V889A probably benign Het
Unc80 A G 1: 66,590,067 (GRCm39) probably null Het
Vinac1 T C 2: 128,869,891 (GRCm39) probably null Het
Vmn1r45 A T 6: 89,910,703 (GRCm39) I89N probably damaging Het
Vmn2r11 A G 5: 109,202,657 (GRCm39) I140T probably benign Het
Yipf2 A T 9: 21,503,474 (GRCm39) D24E probably benign Het
Zfp251 T G 15: 76,738,496 (GRCm39) Q199P possibly damaging Het
Zfp37 A T 4: 62,109,908 (GRCm39) N385K possibly damaging Het
Zfp655 G A 5: 145,181,545 (GRCm39) E468K probably benign Het
Other mutations in Iqce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Iqce APN 5 140,663,883 (GRCm39) nonsense probably null
IGL01862:Iqce APN 5 140,685,480 (GRCm39) missense possibly damaging 0.93
R0255:Iqce UTSW 5 140,651,957 (GRCm39) missense possibly damaging 0.62
R0492:Iqce UTSW 5 140,660,990 (GRCm39) missense probably damaging 0.99
R0580:Iqce UTSW 5 140,651,156 (GRCm39) missense possibly damaging 0.85
R0592:Iqce UTSW 5 140,671,862 (GRCm39) splice site probably null
R2177:Iqce UTSW 5 140,677,348 (GRCm39) splice site probably benign
R4849:Iqce UTSW 5 140,679,214 (GRCm39) missense possibly damaging 0.84
R4979:Iqce UTSW 5 140,677,376 (GRCm39) missense probably damaging 1.00
R5007:Iqce UTSW 5 140,661,003 (GRCm39) missense possibly damaging 0.48
R5341:Iqce UTSW 5 140,675,814 (GRCm39) missense possibly damaging 0.95
R5558:Iqce UTSW 5 140,657,560 (GRCm39) critical splice donor site probably null
R5765:Iqce UTSW 5 140,651,895 (GRCm39) missense probably damaging 0.99
R5910:Iqce UTSW 5 140,687,973 (GRCm39) unclassified probably benign
R6354:Iqce UTSW 5 140,662,090 (GRCm39) splice site probably null
R6732:Iqce UTSW 5 140,660,990 (GRCm39) missense probably benign
R7238:Iqce UTSW 5 140,675,713 (GRCm39) nonsense probably null
R7567:Iqce UTSW 5 140,671,830 (GRCm39) missense probably damaging 1.00
R7735:Iqce UTSW 5 140,663,839 (GRCm39) missense probably benign 0.00
R8339:Iqce UTSW 5 140,660,093 (GRCm39) missense probably damaging 0.97
R8951:Iqce UTSW 5 140,675,578 (GRCm39) missense probably damaging 1.00
R9043:Iqce UTSW 5 140,651,810 (GRCm39) missense probably benign 0.01
R9348:Iqce UTSW 5 140,677,380 (GRCm39) missense probably damaging 1.00
R9571:Iqce UTSW 5 140,651,862 (GRCm39) missense possibly damaging 0.65
R9630:Iqce UTSW 5 140,666,591 (GRCm39) missense possibly damaging 0.63
R9734:Iqce UTSW 5 140,678,564 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCGAGTGGCCACTGTATATTGC -3'
(R):5'- CCGTGTCATCTGCTTCATGG -3'

Sequencing Primer
(F):5'- ATATTGCAGGTCCTGGCTGAACAG -3'
(R):5'- TCATGGCTGCCTTGGAATC -3'
Posted On 2019-05-13