Incidental Mutation 'IGL01958:Klhl22'
ID181443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl22
Ensembl Gene ENSMUSG00000022750
Gene Namekelch-like 22
SynonymsKelchl, 2610318I18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL01958
Quality Score
Status
Chromosome16
Chromosomal Location17759618-17793382 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17776462 bp
ZygosityHeterozygous
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]
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: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Klhl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Klhl22 APN 16 17792711 missense probably benign 0.00
IGL02115:Klhl22 APN 16 17776595 missense probably damaging 0.99
IGL02383:Klhl22 APN 16 17776898 missense possibly damaging 0.60
IGL03381:Klhl22 APN 16 17792727 missense possibly damaging 0.71
R0562:Klhl22 UTSW 16 17792624 missense probably benign
R0811:Klhl22 UTSW 16 17792589 missense probably benign 0.01
R0812:Klhl22 UTSW 16 17792589 missense probably benign 0.01
R1661:Klhl22 UTSW 16 17776488 missense probably benign 0.01
R1665:Klhl22 UTSW 16 17776488 missense probably benign 0.01
R1732:Klhl22 UTSW 16 17777024 missense probably damaging 1.00
R1902:Klhl22 UTSW 16 17771787 missense probably damaging 1.00
R2042:Klhl22 UTSW 16 17792420 unclassified probably benign
R2083:Klhl22 UTSW 16 17776525 missense probably benign
R4368:Klhl22 UTSW 16 17789273 missense possibly damaging 0.94
R4860:Klhl22 UTSW 16 17777016 synonymous silent
R6413:Klhl22 UTSW 16 17789317 missense probably benign 0.01
R7031:Klhl22 UTSW 16 17777026 missense probably damaging 1.00
R7095:Klhl22 UTSW 16 17792750 missense probably damaging 0.98
R7378:Klhl22 UTSW 16 17776805 missense probably damaging 1.00
R7565:Klhl22 UTSW 16 17789284 missense probably damaging 1.00
R8051:Klhl22 UTSW 16 17792579 missense probably damaging 0.99
R8153:Klhl22 UTSW 16 17792550 missense probably damaging 0.99
Z1088:Klhl22 UTSW 16 17776543 missense possibly damaging 0.86
Z1176:Klhl22 UTSW 16 17776696 missense probably benign 0.16
Posted On2014-05-07