Incidental Mutation 'R8051:Klhl22'
ID 619070
Institutional Source Beutler Lab
Gene Symbol Klhl22
Ensembl Gene ENSMUSG00000022750
Gene Name kelch-like 22
Synonyms 2610318I18Rik, Kelchl
MMRRC Submission 067488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R8051 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17577485-17611246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17610443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 565 (I565F)
Ref Sequence ENSEMBL: ENSMUSP00000112412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012161] [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 damaging
Transcript: ENSMUST00000120488
AA Change: I565F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: I565F

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: ENSMUST00000165790
AA Change: I565F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: I565F

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: ENSMUST00000232577
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 78,750,527 (GRCm39) L1766Q probably damaging Het
Adgrl3 A G 5: 81,613,113 (GRCm39) Y114C probably damaging Het
Ano9 T A 7: 140,684,445 (GRCm39) I472F probably damaging Het
Arhgap10 A G 8: 78,244,309 (GRCm39) F35S probably damaging Het
Bltp2 G A 11: 78,164,238 (GRCm39) probably benign Het
Btnl2 T A 17: 34,582,473 (GRCm39) D346E probably damaging Het
C4bp A T 1: 130,583,705 (GRCm39) C88S probably damaging Het
Cavin2 A T 1: 51,340,283 (GRCm39) Q320L probably benign Het
Chtf18 C A 17: 25,942,453 (GRCm39) V462L probably benign Het
Crisp3 A T 17: 40,543,451 (GRCm39) S134R probably benign Het
Dlg4 C A 11: 69,922,468 (GRCm39) probably benign Het
Dsc3 A T 18: 20,114,270 (GRCm39) M328K probably damaging Het
Efemp2 T A 19: 5,526,095 (GRCm39) D73E probably damaging Het
Fbn1 C T 2: 125,148,383 (GRCm39) A2622T possibly damaging Het
Flt1 T C 5: 147,519,501 (GRCm39) H938R probably benign Het
Flt3 T G 5: 147,295,765 (GRCm39) probably benign Het
Fnbp4 T C 2: 90,608,083 (GRCm39) V935A possibly damaging Het
Frem2 T C 3: 53,442,776 (GRCm39) N2587S probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gm36864 A T 7: 43,891,976 (GRCm39) I385F probably benign Het
Il17re G T 6: 113,436,328 (GRCm39) R47L probably benign Het
Il27ra A G 8: 84,760,578 (GRCm39) probably null Het
Irf4 A G 13: 30,945,456 (GRCm39) I401V probably damaging Het
Kat6a T C 8: 23,400,265 (GRCm39) L342S probably damaging Het
Klc1 T A 12: 111,748,384 (GRCm39) C390S possibly damaging Het
Krt26 A T 11: 99,228,672 (GRCm39) L20Q probably damaging Het
Lamb3 T C 1: 193,012,375 (GRCm39) V384A possibly damaging Het
Lmo2 T A 2: 103,801,045 (GRCm39) L80Q possibly damaging Het
Lrrc37a T G 11: 103,393,952 (GRCm39) E491A possibly damaging Het
Ninj1 T A 13: 49,347,288 (GRCm39) M51K probably damaging Het
Or11g26 C A 14: 50,753,100 (GRCm39) N146K probably benign Het
Or12d17 G A 17: 37,777,213 (GRCm39) G39R probably damaging Het
Plppr3 T A 10: 79,702,838 (GRCm39) T142S probably damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Rap1gap2 G T 11: 74,286,651 (GRCm39) R550S probably damaging Het
Rbm33 A G 5: 28,557,623 (GRCm39) N279D probably damaging Het
Rhox9 C T X: 36,990,253 (GRCm39) G40R probably benign Het
Selplg G A 5: 113,957,502 (GRCm39) T268I probably damaging Het
Slc20a1 T C 2: 129,050,120 (GRCm39) M426T possibly damaging Het
Spata18 A T 5: 73,827,063 (GRCm39) Y220F Het
Spns1 T C 7: 125,971,708 (GRCm39) T281A probably benign Het
Sptan1 C T 2: 29,920,171 (GRCm39) R2288C probably damaging Het
Tacstd2 T C 6: 67,512,383 (GRCm39) D103G probably damaging Het
Tmem121 C T 12: 113,152,487 (GRCm39) A235V probably benign Het
Try4 A G 6: 41,281,996 (GRCm39) D194G probably damaging Het
Tyrp1 C A 4: 80,755,897 (GRCm39) T222K probably damaging Het
Zfp57 T A 17: 37,320,785 (GRCm39) V213D probably damaging Het
Zfy2 A T Y: 2,117,380 (GRCm39) probably benign Het
Zkscan4 G A 13: 21,668,823 (GRCm39) G454R not run 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
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
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'- CAGAAGCTGCCTGGATTGAC -3'
(R):5'- TAGTCCTCGCTAGAGTTGTCAAAC -3'

Sequencing Primer
(F):5'- TGCCTGGATTGACCCTGGTC -3'
(R):5'- AGTTGTCAAACTCTTCCCAGTCAGAC -3'
Posted On 2020-01-23