Incidental Mutation 'R1732:Klhl22'
ID 199425
Institutional Source Beutler Lab
Gene Symbol Klhl22
Ensembl Gene ENSMUSG00000022750
Gene Name kelch-like 22
Synonyms 2610318I18Rik, Kelchl
MMRRC Submission 039764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R1732 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17577485-17611246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17594888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 339 (M339K)
Ref Sequence ENSEMBL: ENSMUSP00000127227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117192] [ENSMUST00000120488] [ENSMUST00000165790]
AlphaFold Q99JN2
Predicted Effect probably damaging
Transcript: ENSMUST00000117192
AA Change: M339K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: M339K

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 damaging
Transcript: ENSMUST00000120488
AA Change: M339K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: M339K

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: ENSMUST00000144116
Predicted Effect probably damaging
Transcript: ENSMUST00000165790
AA Change: M339K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: M339K

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 0.4566 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C A 12: 71,265,995 (GRCm39) Q1445K probably benign Het
Acacb A T 5: 114,328,148 (GRCm39) M303L possibly damaging Het
Actl9 T C 17: 33,652,096 (GRCm39) V52A probably damaging Het
Adam7 T C 14: 68,735,899 (GRCm39) T781A probably benign Het
Agpat4 T C 17: 12,435,615 (GRCm39) V293A probably benign Het
Ank1 T A 8: 23,601,479 (GRCm39) probably benign Het
Atp1a1 C A 3: 101,492,115 (GRCm39) G587V probably damaging Het
Avpr1b T C 1: 131,527,992 (GRCm39) F172L probably damaging Het
Bmp1 A T 14: 70,723,705 (GRCm39) D710E possibly damaging Het
Cep126 A T 9: 8,099,762 (GRCm39) I924N probably benign Het
Chek2 G T 5: 111,019,968 (GRCm39) A517S probably benign Het
Cmbl A T 15: 31,588,378 (GRCm39) E165D probably damaging Het
Cntnap3 A T 13: 64,888,626 (GRCm39) probably null Het
Col1a1 A T 11: 94,835,241 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,600,653 (GRCm39) M624V possibly damaging Het
Cwc15 A G 9: 14,421,543 (GRCm39) D203G probably benign Het
Cyld C T 8: 89,458,295 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,302,455 (GRCm39) I84F probably damaging Het
Dennd3 T A 15: 73,409,267 (GRCm39) probably benign Het
Desi2 A C 1: 178,084,217 (GRCm39) probably benign Het
Dmxl1 T A 18: 50,026,511 (GRCm39) L1873* probably null Het
Dmxl1 T A 18: 50,036,055 (GRCm39) H2359Q probably benign Het
Ephb4 A G 5: 137,370,440 (GRCm39) N880S possibly damaging Het
F10 T C 8: 13,100,764 (GRCm39) L214P probably damaging Het
F5 G A 1: 164,001,719 (GRCm39) V141M probably damaging Het
Fam135a A T 1: 24,065,734 (GRCm39) S1022T possibly damaging Het
Fam13b A T 18: 34,620,187 (GRCm39) N232K probably benign Het
Fyco1 T C 9: 123,648,157 (GRCm39) E1259G probably benign Het
Gak A T 5: 108,724,448 (GRCm39) D1087E probably benign Het
Gm7138 A T 10: 77,612,682 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,962 (GRCm39) noncoding transcript Het
Gpr25 A G 1: 136,187,866 (GRCm39) V249A probably benign Het
Hcn3 T C 3: 89,055,426 (GRCm39) H607R probably damaging Het
Hdac4 T A 1: 91,875,257 (GRCm39) T905S probably benign Het
Itgad T C 7: 127,804,279 (GRCm39) S86P probably benign Het
Itgb4 G T 11: 115,879,744 (GRCm39) R632L probably damaging Het
Kcnb2 A T 1: 15,779,979 (GRCm39) T284S probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mybpc2 C A 7: 44,163,099 (GRCm39) V484L probably benign Het
Noa1 A T 5: 77,454,221 (GRCm39) V473E probably benign Het
Nwd1 C G 8: 73,393,463 (GRCm39) S242C possibly damaging Het
Or55b10 C A 7: 102,143,247 (GRCm39) C245F probably damaging Het
Or7e174 A G 9: 20,012,796 (GRCm39) H247R probably damaging Het
Otof A T 5: 30,543,815 (GRCm39) W535R probably damaging Het
Peg3 T C 7: 6,712,084 (GRCm39) E1046G possibly damaging Het
Phldb2 T C 16: 45,577,529 (GRCm39) E1132G probably damaging Het
Phtf2 A T 5: 20,994,625 (GRCm39) probably null Het
Plce1 G T 19: 38,705,282 (GRCm39) A896S possibly damaging Het
Prim1 T C 10: 127,851,193 (GRCm39) Y26H probably damaging Het
Prr12 T A 7: 44,697,780 (GRCm39) T712S unknown Het
Psme4 G A 11: 30,798,105 (GRCm39) R1366H probably benign Het
Ptpdc1 T C 13: 48,740,021 (GRCm39) E409G probably benign Het
Rabep1 A G 11: 70,795,467 (GRCm39) N274S probably damaging Het
Rbm14 A G 19: 4,853,495 (GRCm39) S296P probably benign Het
Rec114 A G 9: 58,560,389 (GRCm39) S206P probably damaging Het
Rps6ka1 A T 4: 133,587,381 (GRCm39) Y531N probably damaging Het
Slc28a2 T C 2: 122,280,239 (GRCm39) probably benign Het
Slc34a1 A G 13: 55,561,233 (GRCm39) H566R probably benign Het
Slc9c1 A G 16: 45,373,291 (GRCm39) T290A probably benign Het
Smarcc1 T A 9: 110,014,888 (GRCm39) probably benign Het
Srp54b T A 12: 55,299,544 (GRCm39) probably null Het
Stambpl1 C G 19: 34,204,121 (GRCm39) N70K probably damaging Het
Synj1 T C 16: 90,761,118 (GRCm39) K710E probably damaging Het
Tenm3 T A 8: 48,763,669 (GRCm39) D795V probably damaging Het
Tgm2 T C 2: 157,976,277 (GRCm39) Y149C probably damaging Het
Tmem151a C A 19: 5,132,895 (GRCm39) A104S probably damaging Het
Top1mt A G 15: 75,538,100 (GRCm39) probably null Het
Tpgs1 T A 10: 79,511,428 (GRCm39) L190Q possibly damaging Het
Triobp T A 15: 78,851,428 (GRCm39) H527Q possibly damaging Het
Tspan2 A G 3: 102,676,193 (GRCm39) I197V probably damaging Het
Ube3b A G 5: 114,525,506 (GRCm39) I76V probably benign Het
Vmn1r32 A T 6: 66,530,285 (GRCm39) S164T probably benign Het
Zfp607a G T 7: 27,577,884 (GRCm39) C318F 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
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'- GTGCCCTTATGTACCACCGGAATG -3'
(R):5'- GATGTGCCCTTGATAACGTGTACCC -3'

Sequencing Primer
(F):5'- TTATGTACCACCGGAATGAGATCC -3'
(R):5'- CTTGATAACGTGTACCCTGAACAG -3'
Posted On 2014-05-23