Incidental Mutation 'IGL01958:Klhl22'
ID 181443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl22
Ensembl Gene ENSMUSG00000022750
Gene Name kelch-like 22
Synonyms 2610318I18Rik, Kelchl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # IGL01958
Quality Score
Status
Chromosome 16
Chromosomal Location 17577485-17611246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17594326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 152 (I152V)
Ref Sequence ENSEMBL: ENSMUSP00000127227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117192] [ENSMUST00000120488] [ENSMUST00000126600] [ENSMUST00000129199] [ENSMUST00000129299] [ENSMUST00000140306] [ENSMUST00000165790]
AlphaFold Q99JN2
Predicted Effect probably benign
Transcript: ENSMUST00000117192
AA Change: I152V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: I152V

DomainStartEndE-ValueType
BTB 50 147 3.58e-26 SMART
BACK 152 258 2.14e-19 SMART
Kelch 299 349 8.12e0 SMART
Kelch 350 399 8.09e-4 SMART
Kelch 400 446 1.69e-6 SMART
Kelch 447 493 1.53e-4 SMART
Kelch 494 544 7.59e-2 SMART
Kelch 545 593 1.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120488
AA Change: I152V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: I152V

DomainStartEndE-ValueType
BTB 50 147 3.58e-26 SMART
BACK 152 258 2.14e-19 SMART
Kelch 299 349 8.12e0 SMART
Kelch 350 399 8.09e-4 SMART
Kelch 400 446 1.69e-6 SMART
Kelch 447 493 1.53e-4 SMART
Kelch 494 544 7.59e-2 SMART
Kelch 545 593 1.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126600
SMART Domains Protein: ENSMUSP00000118696
Gene: ENSMUSG00000022750

DomainStartEndE-ValueType
Pfam:BTB 40 115 1.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129199
SMART Domains Protein: ENSMUSP00000119191
Gene: ENSMUSG00000022750

DomainStartEndE-ValueType
BTB 50 117 3.1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129299
Predicted Effect probably benign
Transcript: ENSMUST00000140306
SMART Domains Protein: ENSMUSP00000122145
Gene: ENSMUSG00000022750

DomainStartEndE-ValueType
BTB 50 130 5.11e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144116
Predicted Effect probably benign
Transcript: ENSMUST00000165790
AA Change: I152V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: I152V

DomainStartEndE-ValueType
BTB 50 147 3.58e-26 SMART
BACK 152 258 2.14e-19 SMART
Kelch 299 349 8.12e0 SMART
Kelch 350 399 8.09e-4 SMART
Kelch 400 446 1.69e-6 SMART
Kelch 447 493 1.53e-4 SMART
Kelch 494 544 7.59e-2 SMART
Kelch 545 593 1.04e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Klhl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Klhl22 APN 16 17,610,575 (GRCm39) missense probably benign 0.00
IGL02115:Klhl22 APN 16 17,594,459 (GRCm39) missense probably damaging 0.99
IGL02383:Klhl22 APN 16 17,594,762 (GRCm39) missense possibly damaging 0.60
IGL03381:Klhl22 APN 16 17,610,591 (GRCm39) missense possibly damaging 0.71
R0562:Klhl22 UTSW 16 17,610,488 (GRCm39) missense probably benign
R0811:Klhl22 UTSW 16 17,610,453 (GRCm39) missense probably benign 0.01
R0812:Klhl22 UTSW 16 17,610,453 (GRCm39) missense probably benign 0.01
R1661:Klhl22 UTSW 16 17,594,352 (GRCm39) missense probably benign 0.01
R1665:Klhl22 UTSW 16 17,594,352 (GRCm39) missense probably benign 0.01
R1732:Klhl22 UTSW 16 17,594,888 (GRCm39) missense probably damaging 1.00
R1902:Klhl22 UTSW 16 17,589,651 (GRCm39) missense probably damaging 1.00
R2042:Klhl22 UTSW 16 17,610,284 (GRCm39) unclassified probably benign
R2083:Klhl22 UTSW 16 17,594,389 (GRCm39) missense probably benign
R4368:Klhl22 UTSW 16 17,607,137 (GRCm39) missense possibly damaging 0.94
R4860:Klhl22 UTSW 16 17,594,880 (GRCm39) synonymous silent
R6413:Klhl22 UTSW 16 17,607,181 (GRCm39) missense probably benign 0.01
R7031:Klhl22 UTSW 16 17,594,890 (GRCm39) missense probably damaging 1.00
R7095:Klhl22 UTSW 16 17,610,614 (GRCm39) missense probably damaging 0.98
R7378:Klhl22 UTSW 16 17,594,669 (GRCm39) missense probably damaging 1.00
R7565:Klhl22 UTSW 16 17,607,148 (GRCm39) missense probably damaging 1.00
R8051:Klhl22 UTSW 16 17,610,443 (GRCm39) missense probably damaging 0.99
R8153:Klhl22 UTSW 16 17,610,414 (GRCm39) missense probably damaging 0.99
R8670:Klhl22 UTSW 16 17,594,327 (GRCm39) missense probably damaging 0.99
R8732:Klhl22 UTSW 16 17,589,690 (GRCm39) missense probably damaging 0.98
R9003:Klhl22 UTSW 16 17,589,612 (GRCm39) missense probably damaging 0.99
R9168:Klhl22 UTSW 16 17,602,068 (GRCm39) missense probably damaging 1.00
R9225:Klhl22 UTSW 16 17,594,617 (GRCm39) missense probably damaging 0.96
R9487:Klhl22 UTSW 16 17,589,663 (GRCm39) missense probably benign 0.10
R9603:Klhl22 UTSW 16 17,594,915 (GRCm39) missense possibly damaging 0.92
Z1088:Klhl22 UTSW 16 17,594,407 (GRCm39) missense possibly damaging 0.86
Z1176:Klhl22 UTSW 16 17,594,560 (GRCm39) missense probably benign 0.16
Posted On 2014-05-07