Incidental Mutation 'R0812:Klhl22'
ID 78495
Institutional Source Beutler Lab
Gene Symbol Klhl22
Ensembl Gene ENSMUSG00000022750
Gene Name kelch-like 22
Synonyms 2610318I18Rik, Kelchl
MMRRC Submission 038992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R0812 (G1)
Quality Score 167
Status Validated
Chromosome 16
Chromosomal Location 17577485-17611246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17610453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 568 (M568K)
Ref Sequence ENSEMBL: ENSMUSP00000114115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012161] [ENSMUST00000117192] [ENSMUST00000120488] [ENSMUST00000165790] [ENSMUST00000232577]
AlphaFold Q99JN2
Predicted Effect probably benign
Transcript: ENSMUST00000012161
SMART Domains Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
EGF 71 102 4.56e0 SMART
EGF 113 145 2.43e1 SMART
EGF 147 174 2.03e1 SMART
EGF_like 207 233 1.68e0 SMART
EGF 235 262 1.73e1 SMART
EGF_like 309 352 2.86e1 SMART
EGF_like 323 364 4.97e0 SMART
EGF_like 367 407 8.13e-1 SMART
low complexity region 437 459 N/A INTRINSIC
low complexity region 530 541 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 597 606 N/A INTRINSIC
low complexity region 616 632 N/A INTRINSIC
low complexity region 636 656 N/A INTRINSIC
low complexity region 665 685 N/A INTRINSIC
low complexity region 702 726 N/A INTRINSIC
low complexity region 781 802 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117192
AA Change: M568K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: M568K

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: M568K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: M568K

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: M568K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: M568K

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 noncoding transcript
Transcript: ENSMUST00000231329
Predicted Effect probably benign
Transcript: ENSMUST00000232577
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.8%
  • 20x: 91.7%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,763,229 (GRCm39) S586P probably damaging Het
Abcc3 G A 11: 94,266,028 (GRCm39) probably benign Het
Ap5z1 G A 5: 142,461,546 (GRCm39) R583H probably benign Het
Arrb1 G T 7: 99,247,708 (GRCm39) V346L probably benign Het
Atrnl1 T A 19: 57,661,573 (GRCm39) F518I probably benign Het
Bank1 T A 3: 135,799,127 (GRCm39) I405F probably damaging Het
Cacna1c A G 6: 118,607,224 (GRCm39) C1227R probably benign Het
Cacna1h A G 17: 25,607,602 (GRCm39) L905P probably damaging Het
Cc2d1a A G 8: 84,860,465 (GRCm39) Y826H probably benign Het
Cenpo A G 12: 4,266,643 (GRCm39) V155A probably benign Het
Cnmd A G 14: 79,898,863 (GRCm39) F63S probably damaging Het
Cnn3 G A 3: 121,248,600 (GRCm39) G72D probably damaging Het
Cox10 A G 11: 63,962,539 (GRCm39) S101P probably benign Het
Ctdsp1 T C 1: 74,433,806 (GRCm39) V129A probably damaging Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Dennd5a G A 7: 109,532,820 (GRCm39) H317Y possibly damaging Het
Dnaaf9 A G 2: 130,555,334 (GRCm39) F858S probably damaging Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Enox1 T A 14: 77,819,876 (GRCm39) D210E probably damaging Het
Fam171a1 A G 2: 3,198,464 (GRCm39) N190S probably damaging Het
Fat2 T A 11: 55,144,459 (GRCm39) K4138N possibly damaging Het
Fat4 A T 3: 39,011,623 (GRCm39) D2241V probably damaging Het
Fbn1 C T 2: 125,245,090 (GRCm39) V266I possibly damaging Het
Foxf2 T A 13: 31,811,188 (GRCm39) Y376N probably damaging Het
Fras1 T A 5: 96,900,857 (GRCm39) S3025R probably benign Het
Gba1 T C 3: 89,111,307 (GRCm39) I24T probably benign Het
Gdpd5 A G 7: 99,087,540 (GRCm39) D68G probably damaging Het
Grid1 G A 14: 34,544,576 (GRCm39) S49N probably benign Het
Grtp1 T C 8: 13,229,639 (GRCm39) T250A possibly damaging Het
Gucy1b1 T C 3: 81,945,295 (GRCm39) N448D probably benign Het
H2-Ob A G 17: 34,463,100 (GRCm39) probably benign Het
Hcn4 A G 9: 58,730,795 (GRCm39) M1V probably null Het
Hmcn2 G A 2: 31,310,383 (GRCm39) A3326T probably damaging Het
Impg2 TACCACCACCACCACCACCACCACCA TACCACCACCACCACCACCACCA 16: 56,078,302 (GRCm39) probably benign Het
Ippk C A 13: 49,596,947 (GRCm39) Q254K probably damaging Het
Itga2 A T 13: 115,007,150 (GRCm39) L393I possibly damaging Het
Kcna10 A T 3: 107,102,575 (GRCm39) E402V possibly damaging Het
Kcnab1 G A 3: 65,205,141 (GRCm39) D119N probably damaging Het
Kcnip4 T A 5: 48,567,202 (GRCm39) T122S probably benign Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Krt6a C T 15: 101,601,183 (GRCm39) V257M probably damaging Het
Ksr2 A C 5: 117,693,290 (GRCm39) H246P probably damaging Het
Lca5 T C 9: 83,281,806 (GRCm39) D326G possibly damaging Het
Lcp1 A G 14: 75,451,928 (GRCm39) E393G probably benign Het
Leo1 G A 9: 75,352,831 (GRCm39) E125K probably benign Het
Lipt1 T A 1: 37,914,382 (GRCm39) V146E probably damaging Het
Mael A T 1: 166,062,968 (GRCm39) probably null Het
Mga C T 2: 119,778,442 (GRCm39) L1996F probably damaging Het
Mllt6 A G 11: 97,569,387 (GRCm39) N913S probably damaging Het
Mphosph9 A C 5: 124,436,822 (GRCm39) D507E probably damaging Het
Mvp G A 7: 126,586,728 (GRCm39) A801V probably benign Het
Ndrg2 A G 14: 52,146,119 (GRCm39) probably benign Het
Neb T C 2: 52,182,707 (GRCm39) D1053G possibly damaging Het
Nubp1 C A 16: 10,231,585 (GRCm39) L79I probably benign Het
Or1e1f G A 11: 73,856,246 (GRCm39) E271K probably benign Het
Or1o2 A C 17: 37,543,223 (GRCm39) L13V probably benign Het
Or8d2 G A 9: 38,759,805 (GRCm39) V132I probably benign Het
Pnpla8 G A 12: 44,330,188 (GRCm39) V29M probably benign Het
Psmb2 T A 4: 126,601,350 (GRCm39) I151N possibly damaging Het
Ptgs2 C T 1: 149,977,105 (GRCm39) T104I probably benign Het
Ptpro A G 6: 137,345,077 (GRCm39) T28A probably benign Het
Raf1 A G 6: 115,603,671 (GRCm39) probably null Het
Ranbp2 T C 10: 58,301,351 (GRCm39) M668T probably benign Het
Rbm48 A T 5: 3,641,760 (GRCm39) probably null Het
Rhag A T 17: 41,142,469 (GRCm39) T225S possibly damaging Het
Rhof A C 5: 123,269,950 (GRCm39) L69R probably damaging Het
Slc24a5 T C 2: 124,910,724 (GRCm39) S52P probably damaging Het
Slc8a2 T C 7: 15,875,039 (GRCm39) V429A probably damaging Het
Slfn10-ps G A 11: 82,926,388 (GRCm39) noncoding transcript Het
Spam1 G A 6: 24,796,886 (GRCm39) R279H probably damaging Het
Srfbp1 A G 18: 52,620,588 (GRCm39) D102G probably damaging Het
Srrm3 A C 5: 135,902,136 (GRCm39) probably benign Het
Tk1 T C 11: 117,712,933 (GRCm39) E98G probably damaging Het
Trim13 G A 14: 61,843,149 (GRCm39) V389I probably benign Het
Ttc28 A T 5: 111,383,366 (GRCm39) Y1289F probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ugt1a10 T A 1: 87,983,904 (GRCm39) V234D probably benign Het
Vmn2r18 C A 5: 151,496,395 (GRCm39) probably benign Het
Vmn2r75 C T 7: 85,814,575 (GRCm39) G306E probably benign Het
Vmn2r86 C T 10: 130,289,497 (GRCm39) V133I probably benign Het
Vps13c C A 9: 67,841,758 (GRCm39) Q1927K probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp219 T A 14: 52,244,395 (GRCm39) T550S probably benign Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp507 G A 7: 35,502,048 (GRCm39) probably benign Het
Zfp97 T A 17: 17,365,552 (GRCm39) F350L possibly 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
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
Predicted Primers PCR Primer
(F):5'- CCAGCCTTTCAAAGGGAGAGAAGC -3'
(R):5'- TCAGAAGCAAAGTCTGCATCTGCC -3'

Sequencing Primer
(F):5'- CAGAAGCTGCCTGGATTGAC -3'
(R):5'- TGCATCTGCCTGGCTACG -3'
Posted On 2013-10-16