Incidental Mutation 'R6413:Klhl22'
ID 514831
Institutional Source Beutler Lab
Gene Symbol Klhl22
Ensembl Gene ENSMUSG00000022750
Gene Name kelch-like 22
Synonyms 2610318I18Rik, Kelchl
MMRRC Submission 044555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R6413 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17577485-17611246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17607181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 496 (F496L)
Ref Sequence ENSEMBL: ENSMUSP00000114115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117192] [ENSMUST00000120488] [ENSMUST00000165790]
AlphaFold Q99JN2
Predicted Effect probably benign
Transcript: ENSMUST00000117192
AA Change: F496L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: F496L

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: F496L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: F496L

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: ENSMUST00000165790
AA Change: F496L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: F496L

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,624,647 (GRCm39) probably benign Het
Agtpbp1 A G 13: 59,647,834 (GRCm39) V662A possibly damaging Het
Ambra1 T G 2: 91,599,429 (GRCm39) V183G possibly damaging Het
Amdhd2 A G 17: 24,377,290 (GRCm39) S208P probably damaging Het
Ankdd1a C T 9: 65,417,654 (GRCm39) V133I probably benign Het
Ankrd35 A G 3: 96,592,129 (GRCm39) K805R probably damaging Het
Arhgap28 T C 17: 68,182,583 (GRCm39) Q270R probably benign Het
Cabp2 G A 19: 4,135,698 (GRCm39) probably null Het
Ccnt1 A G 15: 98,441,850 (GRCm39) S473P probably benign Het
Cenpt G A 8: 106,572,973 (GRCm39) P373S possibly damaging Het
Cyp3a44 T A 5: 145,731,254 (GRCm39) D182V probably damaging Het
Ddx54 A G 5: 120,765,127 (GRCm39) T799A probably benign Het
Dtna T A 18: 23,755,071 (GRCm39) D464E probably damaging Het
E030025P04Rik T C 11: 109,030,425 (GRCm39) Y154C unknown Het
Ephb2 C A 4: 136,498,433 (GRCm39) E215D probably benign Het
Eya4 T C 10: 22,992,724 (GRCm39) D445G probably damaging Het
Flg2 A T 3: 93,127,683 (GRCm39) L2198F unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Numa1 A T 7: 101,639,778 (GRCm39) probably null Het
Papola T C 12: 105,772,763 (GRCm39) probably benign Het
Phldb1 T C 9: 44,607,440 (GRCm39) E1255G probably damaging Het
Rgs8 A T 1: 153,568,619 (GRCm39) D168V probably damaging Het
Rlf A G 4: 121,004,522 (GRCm39) V1486A probably damaging Het
Rpa2 G T 4: 132,501,156 (GRCm39) A118S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina1f T A 12: 103,659,953 (GRCm39) I110F probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Sh2b3 A G 5: 121,966,986 (GRCm39) Y43H probably damaging Het
Shank2 A G 7: 143,963,955 (GRCm39) E514G probably damaging Het
Slc44a5 T C 3: 153,963,387 (GRCm39) F388S probably benign Het
Spmip6 A T 4: 41,505,135 (GRCm39) V196D possibly damaging Het
Tmem176b T C 6: 48,815,266 (GRCm39) N9S possibly damaging Het
Trip11 T A 12: 101,851,790 (GRCm39) Q758L probably benign Het
Trrap T A 5: 144,720,856 (GRCm39) I231N possibly damaging Het
Ttn A T 2: 76,730,397 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,870,973 (GRCm39) N770S probably damaging Het
Vmn2r73 A T 7: 85,519,544 (GRCm39) Y471* probably null Het
Vmn2r8 T G 5: 108,949,589 (GRCm39) E419D probably benign Het
Wdfy4 C A 14: 32,689,604 (GRCm39) L2818F probably damaging Het
Zfhx4 A T 3: 5,308,205 (GRCm39) Y477F probably damaging Het
Other mutations in Klhl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Klhl22 APN 16 17,594,326 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- CAAACAGGTATATGCCCATGC -3'
(R):5'- AGGCACAAGGGAAACTTCTATG -3'

Sequencing Primer
(F):5'- TGCAGGCACCACACTGC -3'
(R):5'- TATGCATCATATGGAATGTGCAAGG -3'
Posted On 2018-05-04