Incidental Mutation 'R0492:Iqca1l'
ID 42541
Institutional Source Beutler Lab
Gene Symbol Iqca1l
Ensembl Gene ENSMUSG00000038199
Gene Name IQ motif containing with AAA domain 1 like
Synonyms 4931409K22Rik
MMRRC Submission 038690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R0492 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24748432-24760467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24759626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 48 (L48Q)
Ref Sequence ENSEMBL: ENSMUSP00000142624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088302] [ENSMUST00000198887] [ENSMUST00000200634]
AlphaFold A6H690
Predicted Effect probably damaging
Transcript: ENSMUST00000088302
AA Change: L48Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
AA Change: L48Q

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 70 77 N/A INTRINSIC
low complexity region 184 198 N/A INTRINSIC
IQ 205 227 7.58e-2 SMART
coiled coil region 335 382 N/A INTRINSIC
coiled coil region 429 450 N/A INTRINSIC
low complexity region 467 484 N/A INTRINSIC
Pfam:AAA 568 700 1.6e-14 PFAM
low complexity region 819 825 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198709
Predicted Effect probably damaging
Transcript: ENSMUST00000198887
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142918
Gene: ENSMUSG00000038199
AA Change: L48Q

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 70 77 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199185
Predicted Effect probably damaging
Transcript: ENSMUST00000200634
AA Change: L48Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142624
Gene: ENSMUSG00000038199
AA Change: L48Q

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 70 77 N/A INTRINSIC
low complexity region 184 198 N/A INTRINSIC
Meta Mutation Damage Score 0.1401 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 99% (99/100)
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Adgre1 A G 17: 57,709,742 (GRCm39) D133G unknown Het
Alpl A C 4: 137,476,887 (GRCm39) probably null Het
Ankrd65 T C 4: 155,875,133 (GRCm39) probably benign Het
Baalc A T 15: 38,797,480 (GRCm39) probably benign Het
Bpifb5 A G 2: 154,070,820 (GRCm39) T204A probably benign Het
Bud31 A G 5: 145,083,265 (GRCm39) Y77C probably damaging Het
Calhm6 G A 10: 34,003,647 (GRCm39) R87* probably null Het
Capsl A G 15: 9,461,930 (GRCm39) probably benign Het
Ccna1 A G 3: 54,956,004 (GRCm39) V116A probably damaging Het
Cdc42bpa C A 1: 179,928,755 (GRCm39) H723N probably benign Het
Cfap161 T C 7: 83,443,245 (GRCm39) I40V possibly damaging Het
CK137956 C T 4: 127,845,093 (GRCm39) V217I probably benign Het
Cog5 A G 12: 31,919,460 (GRCm39) T540A probably damaging Het
Cps1 T C 1: 67,196,995 (GRCm39) W349R probably damaging Het
Crispld2 G T 8: 120,752,806 (GRCm39) V285L probably benign Het
Crtc2 T A 3: 90,170,804 (GRCm39) F626I probably damaging Het
Daam1 G A 12: 71,991,154 (GRCm39) R256H unknown Het
Dhx38 G T 8: 110,288,576 (GRCm39) probably benign Het
Dok4 G A 8: 95,591,764 (GRCm39) A324V probably benign Het
Dscam T C 16: 96,626,982 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,365 (GRCm39) S489T probably benign Het
Ecpas A G 4: 58,864,418 (GRCm39) W288R probably damaging Het
Erbin A T 13: 103,970,866 (GRCm39) Y917N probably damaging Het
F13b A T 1: 139,450,297 (GRCm39) probably null Het
Fdx1 C A 9: 51,874,725 (GRCm39) A15S probably benign Het
Ffar4 A T 19: 38,085,630 (GRCm39) Q19L probably benign Het
Folh1 A C 7: 86,395,400 (GRCm39) V344G probably damaging Het
Fscb T A 12: 64,520,292 (GRCm39) E391D possibly damaging Het
Gigyf2 G A 1: 87,368,568 (GRCm39) G1083R probably damaging Het
Gm14403 C A 2: 177,200,359 (GRCm39) H102N probably benign Het
Gm4847 A G 1: 166,457,961 (GRCm39) F464S probably damaging Het
Gpam A T 19: 55,084,611 (GRCm39) M56K possibly damaging Het
Gpr165 T A X: 95,760,778 (GRCm39) F352I probably damaging Het
Grik2 T G 10: 48,977,260 (GRCm39) I891L probably damaging Het
Gsr T C 8: 34,171,603 (GRCm39) probably benign Het
Hhla1 A G 15: 65,808,140 (GRCm39) F302L probably benign Het
Impg1 T C 9: 80,252,590 (GRCm39) D453G possibly damaging Het
Inpp5d T A 1: 87,625,872 (GRCm39) V495E possibly damaging Het
Iqce A T 5: 140,660,990 (GRCm39) L450H probably damaging Het
Itfg2 A G 6: 128,390,486 (GRCm39) probably null Het
Kif13a A G 13: 46,966,218 (GRCm39) V400A possibly damaging Het
Kif7 T C 7: 79,363,629 (GRCm39) Y93C probably damaging Het
Krt33a A G 11: 99,906,909 (GRCm39) V22A probably benign Het
Lct T C 1: 128,228,319 (GRCm39) D1058G probably damaging Het
Lrp6 G T 6: 134,457,481 (GRCm39) D774E possibly damaging Het
Lrrc9 T A 12: 72,525,537 (GRCm39) S828R possibly damaging Het
Ly75 A G 2: 60,138,620 (GRCm39) W1416R probably damaging Het
Mdh2 T C 5: 135,819,004 (GRCm39) I320T possibly damaging Het
Med13l T A 5: 118,876,560 (GRCm39) V912E probably damaging Het
Mgarp T C 3: 51,296,456 (GRCm39) D182G possibly damaging Het
Mllt10 T C 2: 18,151,698 (GRCm39) probably benign Het
Mmp28 G A 11: 83,334,629 (GRCm39) A375V probably damaging Het
Mrps23 T A 11: 88,101,511 (GRCm39) H133Q probably benign Het
Msh6 T C 17: 88,282,679 (GRCm39) S35P probably benign Het
Myo3a A G 2: 22,328,447 (GRCm39) D347G possibly damaging Het
Npc1l1 T C 11: 6,173,040 (GRCm39) K800E possibly damaging Het
Or2ag13 A T 7: 106,473,084 (GRCm39) Y123N probably damaging Het
Or51ai2 T C 7: 103,586,971 (GRCm39) I128T probably benign Het
Or5i1 T G 2: 87,613,166 (GRCm39) I94S probably damaging Het
Or5m9 T C 2: 85,876,931 (GRCm39) V35A probably benign Het
Or5m9 T C 2: 85,877,278 (GRCm39) F151L possibly damaging Het
Or5t7 G A 2: 86,506,834 (GRCm39) P281L probably damaging Het
Or6p1 T A 1: 174,258,129 (GRCm39) I45N possibly damaging Het
Osmr A C 15: 6,853,999 (GRCm39) W570G probably damaging Het
Otol1 A T 3: 69,935,117 (GRCm39) I370F probably damaging Het
Pank2 A G 2: 131,122,180 (GRCm39) Y235C probably damaging Het
Pias2 T C 18: 77,193,581 (GRCm39) S187P probably damaging Het
Pkhd1l1 A G 15: 44,383,086 (GRCm39) N1115S probably benign Het
Pld1 G T 3: 28,163,966 (GRCm39) A800S probably damaging Het
Prex2 T C 1: 11,256,857 (GRCm39) probably benign Het
Ptpn3 T C 4: 57,194,304 (GRCm39) Q908R probably benign Het
Rab3gap2 T A 1: 184,984,589 (GRCm39) probably benign Het
Rbm24 A T 13: 46,573,826 (GRCm39) N82Y probably damaging Het
Rpl27 T C 11: 101,336,081 (GRCm39) V47A possibly damaging Het
Serpina1f A G 12: 103,659,826 (GRCm39) V152A possibly damaging Het
Serpina5 A G 12: 104,068,392 (GRCm39) Y151C probably damaging Het
Serpinb7 A G 1: 107,379,737 (GRCm39) *381W probably null Het
Sh2b2 A G 5: 136,261,117 (GRCm39) F33S probably damaging Het
Slc22a2 A C 17: 12,834,159 (GRCm39) I476L probably benign Het
Slc6a12 A T 6: 121,332,331 (GRCm39) I222F probably benign Het
Smim26 G A 2: 144,437,033 (GRCm39) D61N probably damaging Het
Soat1 A T 1: 156,268,924 (GRCm39) Y209N probably benign Het
Sorl1 T C 9: 41,902,667 (GRCm39) H1630R probably null Het
Sptlc2 A T 12: 87,393,580 (GRCm39) probably null Het
Strn3 G A 12: 51,657,187 (GRCm39) T642I probably damaging Het
Syce1l T A 8: 114,380,700 (GRCm39) D137E possibly damaging Het
Syne2 T C 12: 76,028,837 (GRCm39) probably null Het
Tcf25 C A 8: 124,108,203 (GRCm39) P86Q probably benign Het
Tmem19 A T 10: 115,197,715 (GRCm39) Y43* probably null Het
Tmem30b T C 12: 73,592,942 (GRCm39) N58D probably benign Het
Tnn A C 1: 159,948,327 (GRCm39) I795M probably damaging Het
Tnpo1 A G 13: 98,991,954 (GRCm39) Y641H probably damaging Het
Tra2a A T 6: 49,227,889 (GRCm39) probably benign Het
Trappc8 A T 18: 20,999,243 (GRCm39) F295I probably benign Het
Vmn2r101 T A 17: 19,809,245 (GRCm39) W125R probably damaging Het
Vps8 C A 16: 21,261,107 (GRCm39) F82L probably damaging Het
Ythdf2 A T 4: 131,931,779 (GRCm39) S460R probably damaging Het
Other mutations in Iqca1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Iqca1l APN 5 24,753,292 (GRCm39) missense probably benign 0.03
IGL02110:Iqca1l APN 5 24,753,082 (GRCm39) splice site probably benign
R0329:Iqca1l UTSW 5 24,750,783 (GRCm39) splice site probably null
R0585:Iqca1l UTSW 5 24,755,721 (GRCm39) missense probably benign
R0656:Iqca1l UTSW 5 24,754,760 (GRCm39) missense possibly damaging 0.67
R0894:Iqca1l UTSW 5 24,755,731 (GRCm39) splice site probably null
R1546:Iqca1l UTSW 5 24,760,426 (GRCm39) splice site probably null
R1642:Iqca1l UTSW 5 24,757,686 (GRCm39) missense probably damaging 1.00
R1998:Iqca1l UTSW 5 24,750,004 (GRCm39) missense probably benign 0.01
R2090:Iqca1l UTSW 5 24,755,674 (GRCm39) missense probably benign 0.15
R2186:Iqca1l UTSW 5 24,759,524 (GRCm39) missense probably damaging 1.00
R2237:Iqca1l UTSW 5 24,753,292 (GRCm39) missense probably benign 0.03
R2256:Iqca1l UTSW 5 24,757,038 (GRCm39) utr 3 prime probably benign
R2257:Iqca1l UTSW 5 24,757,038 (GRCm39) utr 3 prime probably benign
R3078:Iqca1l UTSW 5 24,751,664 (GRCm39) missense probably benign
R3522:Iqca1l UTSW 5 24,754,624 (GRCm39) critical splice donor site probably null
R3910:Iqca1l UTSW 5 24,750,440 (GRCm39) splice site probably benign
R3911:Iqca1l UTSW 5 24,750,440 (GRCm39) splice site probably benign
R4333:Iqca1l UTSW 5 24,749,368 (GRCm39) missense probably damaging 1.00
R4335:Iqca1l UTSW 5 24,749,368 (GRCm39) missense probably damaging 1.00
R4500:Iqca1l UTSW 5 24,753,275 (GRCm39) missense possibly damaging 0.85
R4761:Iqca1l UTSW 5 24,756,981 (GRCm39) missense probably benign
R4773:Iqca1l UTSW 5 24,755,596 (GRCm39) critical splice donor site probably null
R4880:Iqca1l UTSW 5 24,754,750 (GRCm39) missense probably benign
R5614:Iqca1l UTSW 5 24,755,140 (GRCm39) missense probably benign 0.03
R5839:Iqca1l UTSW 5 24,757,024 (GRCm39) missense probably damaging 0.98
R5847:Iqca1l UTSW 5 24,749,164 (GRCm39) missense probably benign 0.16
R7061:Iqca1l UTSW 5 24,750,063 (GRCm39) missense probably benign 0.00
R7131:Iqca1l UTSW 5 24,753,954 (GRCm39) missense possibly damaging 0.81
R7156:Iqca1l UTSW 5 24,757,648 (GRCm39) missense probably benign 0.05
R7248:Iqca1l UTSW 5 24,749,269 (GRCm39) missense probably benign 0.00
R7480:Iqca1l UTSW 5 24,751,904 (GRCm39) missense probably damaging 1.00
R7693:Iqca1l UTSW 5 24,751,626 (GRCm39) missense probably benign 0.01
R7782:Iqca1l UTSW 5 24,749,224 (GRCm39) missense probably damaging 0.98
R7814:Iqca1l UTSW 5 24,750,420 (GRCm39) missense possibly damaging 0.95
R7898:Iqca1l UTSW 5 24,758,643 (GRCm39) missense probably damaging 1.00
R8024:Iqca1l UTSW 5 24,755,634 (GRCm39) missense possibly damaging 0.70
R8172:Iqca1l UTSW 5 24,748,608 (GRCm39) missense probably benign
R8281:Iqca1l UTSW 5 24,754,008 (GRCm39) missense probably benign 0.02
R8511:Iqca1l UTSW 5 24,750,906 (GRCm39) missense possibly damaging 0.95
R8888:Iqca1l UTSW 5 24,755,628 (GRCm39) missense probably benign 0.20
R8895:Iqca1l UTSW 5 24,755,628 (GRCm39) missense probably benign 0.20
R9246:Iqca1l UTSW 5 24,753,969 (GRCm39) missense probably benign 0.22
R9450:Iqca1l UTSW 5 24,754,447 (GRCm39) missense probably benign 0.13
X0063:Iqca1l UTSW 5 24,754,763 (GRCm39) splice site probably null
Z1177:Iqca1l UTSW 5 24,755,793 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAAGCACCCCAGTTCCTGAGAGTC -3'
(R):5'- AAGTTCACAGTCCTCCAAAGGCAG -3'

Sequencing Primer
(F):5'- TCCTGAGAGTCTAAATTCCAAGTCC -3'
(R):5'- TAGCGCACTttcttcttcttcttc -3'
Posted On 2013-05-23