Incidental Mutation 'R4335:Iqca1l'
ID 323732
Institutional Source Beutler Lab
Gene Symbol Iqca1l
Ensembl Gene ENSMUSG00000038199
Gene Name IQ motif containing with AAA domain 1 like
Synonyms 4931409K22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R4335 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24748432-24760467 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24749368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 710 (L710P)
Ref Sequence ENSEMBL: ENSMUSP00000085642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048302] [ENSMUST00000088302] [ENSMUST00000117900] [ENSMUST00000119657] [ENSMUST00000200634]
AlphaFold A6H690
Predicted Effect probably benign
Transcript: ENSMUST00000048302
SMART Domains Protein: ENSMUSP00000041539
Gene: ENSMUSG00000038204

DomainStartEndE-ValueType
ANK 115 144 2.62e-4 SMART
ANK 147 176 3.51e-5 SMART
ANK 180 209 7.99e2 SMART
ANK 214 243 1.44e-1 SMART
ANK 247 289 2.39e2 SMART
ANK 293 322 3.01e-4 SMART
ANK 326 362 1.46e2 SMART
SOCS_box 422 461 6.77e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088302
AA Change: L710P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
AA Change: L710P

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 probably benign
Transcript: ENSMUST00000117900
SMART Domains Protein: ENSMUSP00000112743
Gene: ENSMUSG00000038204

DomainStartEndE-ValueType
ANK 100 129 2.62e-4 SMART
ANK 132 161 3.51e-5 SMART
ANK 165 194 7.99e2 SMART
ANK 199 228 1.44e-1 SMART
ANK 232 274 2.39e2 SMART
ANK 278 307 3.01e-4 SMART
ANK 311 347 1.46e2 SMART
SOCS_box 407 446 6.77e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119657
SMART Domains Protein: ENSMUSP00000113328
Gene: ENSMUSG00000038204

DomainStartEndE-ValueType
ANK 115 144 2.62e-4 SMART
ANK 147 176 3.51e-5 SMART
ANK 180 209 7.99e2 SMART
ANK 214 243 1.44e-1 SMART
ANK 247 289 2.39e2 SMART
ANK 293 322 3.01e-4 SMART
ANK 326 362 1.46e2 SMART
SOCS_box 384 423 6.77e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199185
Predicted Effect probably benign
Transcript: ENSMUST00000200634
SMART Domains Protein: ENSMUSP00000142624
Gene: ENSMUSG00000038199

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G A 11: 110,042,843 (GRCm39) T402M probably damaging Het
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Armh1 A T 4: 117,071,660 (GRCm39) I308N probably damaging Het
Ceacam5 G A 7: 17,486,054 (GRCm39) R517Q probably benign Het
Clic4 C T 4: 134,945,916 (GRCm39) S167N probably benign Het
Ehbp1l1 A T 19: 5,758,797 (GRCm39) L1644Q probably damaging Het
Erh A G 12: 80,689,615 (GRCm39) L3P probably benign Het
Fbxw7 T C 3: 84,879,802 (GRCm39) C375R probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fsd2 A T 7: 81,191,813 (GRCm39) S521R probably damaging Het
Garin2 T C 12: 78,759,006 (GRCm39) S109P possibly damaging Het
Hace1 A G 10: 45,586,057 (GRCm39) Y865C probably damaging Het
Iqcf1 G A 9: 106,379,072 (GRCm39) R62H possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Leng8 T C 7: 4,150,037 (GRCm39) Y781H probably damaging Het
Med8 G T 4: 118,266,567 (GRCm39) probably null Het
Myo19 G A 11: 84,799,114 (GRCm39) A816T probably benign Het
Nat8f2 A G 6: 85,845,233 (GRCm39) L43P probably damaging Het
Omd A C 13: 49,743,712 (GRCm39) D254A probably benign Het
Psd2 G T 18: 36,140,583 (GRCm39) A622S probably damaging Het
Rnf207 G A 4: 152,400,062 (GRCm39) probably benign Het
Rsbn1l T C 5: 21,113,191 (GRCm39) I444V probably null Het
Rxfp1 A G 3: 79,594,105 (GRCm39) probably null Het
Selenot C A 3: 58,492,722 (GRCm39) R70S possibly damaging Het
Sox6 A G 7: 115,111,959 (GRCm39) S557P probably benign Het
Sp9 G A 2: 73,104,633 (GRCm39) V396M probably damaging Het
Ston1 T C 17: 88,943,125 (GRCm39) F177S probably damaging Het
Syne2 A G 12: 76,074,866 (GRCm39) E4602G probably damaging Het
Tbc1d19 A G 5: 54,029,619 (GRCm39) T327A possibly damaging Het
Tsga13 T C 6: 30,876,980 (GRCm39) D179G probably damaging Het
Wdr27 T A 17: 15,141,018 (GRCm39) probably null 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
R0492:Iqca1l UTSW 5 24,759,626 (GRCm39) missense probably damaging 1.00
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
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'- AACTCAGAGGCAACCAGTGG -3'
(R):5'- TGGACACTGAGCATGTAACTAGAAG -3'

Sequencing Primer
(F):5'- GCAACCAGTGGCTTCTTGATAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2015-06-24