Incidental Mutation 'R6732:Iqce'
ID 530105
Institutional Source Beutler Lab
Gene Symbol Iqce
Ensembl Gene ENSMUSG00000036555
Gene Name IQ motif containing E
Synonyms 1700028P05Rik
MMRRC Submission 044850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6732 (G1)
Quality Score 99.0078
Status Validated
Chromosome 5
Chromosomal Location 140648308-140688158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140660990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 450 (L450P)
Ref Sequence ENSEMBL: ENSMUSP00000077050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041783] [ENSMUST00000077890]
AlphaFold Q6PCQ0
Predicted Effect probably benign
Transcript: ENSMUST00000041783
AA Change: L495P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
AA Change: L495P

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 probably benign
Transcript: ENSMUST00000077890
AA Change: L450P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
AA Change: L450P

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 probably benign
Transcript: ENSMUST00000129704
SMART Domains Protein: ENSMUSP00000121457
Gene: ENSMUSG00000036555

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136385
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,117,190 (GRCm39) I486T probably damaging Het
Abcc5 T C 16: 20,223,434 (GRCm39) N158S probably benign Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ap1ar G A 3: 127,609,334 (GRCm39) Q96* probably null Het
Cd101 C T 3: 100,915,515 (GRCm39) S684N probably benign Het
Cdh16 T G 8: 105,345,165 (GRCm39) I375L probably benign Het
Chchd6 A G 6: 89,551,436 (GRCm39) V75A probably benign Het
Coro2a A T 4: 46,551,374 (GRCm39) N110K probably damaging Het
Cyp2c69 A G 19: 39,869,943 (GRCm39) V93A probably benign Het
Dnaaf9 A G 2: 130,652,740 (GRCm39) probably null Het
Egln3 C T 12: 54,227,427 (GRCm39) A235T probably benign Het
Fryl T C 5: 73,212,124 (GRCm39) T2335A probably damaging Het
Fzd3 T C 14: 65,473,252 (GRCm39) D172G probably benign Het
Galnt2 T A 8: 125,067,561 (GRCm39) W447R probably damaging Het
Ly9 T C 1: 171,421,653 (GRCm39) T533A possibly damaging Het
Map3k19 A C 1: 127,751,969 (GRCm39) F257V probably benign Het
Mroh7 GTT GTTT 4: 106,537,910 (GRCm39) probably null Het
Or5ac20 A T 16: 59,104,314 (GRCm39) V182E probably benign Het
Pcdhb11 A T 18: 37,555,197 (GRCm39) I176F probably benign Het
Pigp A C 16: 94,166,300 (GRCm39) L96R probably damaging Het
Pkd1 A G 17: 24,788,387 (GRCm39) D715G probably damaging Het
Plxnd1 A C 6: 115,946,890 (GRCm39) L828R possibly damaging Het
Pramel15 C T 4: 144,099,743 (GRCm39) V341I probably benign Het
Psmd2 T A 16: 20,481,386 (GRCm39) S814T probably benign Het
Pusl1 A G 4: 155,975,573 (GRCm39) S87P probably benign Het
Rgs3 T A 4: 62,521,180 (GRCm39) D34E probably benign Het
Rhof A G 5: 123,269,999 (GRCm39) F53L probably damaging Het
Sik3 C A 9: 46,123,851 (GRCm39) P1217T probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc14a2 A G 18: 78,235,389 (GRCm39) Y263H probably damaging Het
Slc26a4 C T 12: 31,576,599 (GRCm39) probably null Het
Smyd3 T G 1: 179,223,395 (GRCm39) H178P probably benign Het
Thada T C 17: 84,761,842 (GRCm39) probably null Het
Top1mt A C 15: 75,541,337 (GRCm39) probably null Het
Trim17 A T 11: 58,861,851 (GRCm39) probably null Het
Ttn A T 2: 76,770,395 (GRCm39) F2599I possibly damaging Het
Tuba3a A T 6: 125,258,608 (GRCm39) D127E probably benign Het
Ucp1 A G 8: 84,018,106 (GRCm39) T68A probably benign Het
Vmn2r69 A G 7: 85,060,351 (GRCm39) V411A probably benign Het
Vmn2r74 A T 7: 85,606,758 (GRCm39) V196E probably damaging Het
Wdr59 T C 8: 112,227,684 (GRCm39) Y131C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb21 G T 16: 97,752,282 (GRCm39) S667Y probably damaging 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
R7050:Iqce UTSW 5 140,651,846 (GRCm39) missense possibly damaging 0.76
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'- TTCTACAGCTGGACATGGGC -3'
(R):5'- AAATACATCGGCAGTGTCTCC -3'

Sequencing Primer
(F):5'- ACATGGGCCAGGAAGCTC -3'
(R):5'- CATTAATCTTTAAAGAGAACCCCCAG -3'
Posted On 2018-08-01