Incidental Mutation 'IGL02333:Klhl2'
ID288778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl2
Ensembl Gene ENSMUSG00000031605
Gene Namekelch-like 2, Mayven
SynonymsMav, ABP-KELCH, 6030411N21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02333
Quality Score
Status
Chromosome8
Chromosomal Location64739675-64850017 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 64759750 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 252 (R252W)
Ref Sequence ENSEMBL: ENSMUSP00000147262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034017] [ENSMUST00000210166]
Predicted Effect probably damaging
Transcript: ENSMUST00000034017
AA Change: R252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: R252W

DomainStartEndE-ValueType
BTB 56 153 9.65e-32 SMART
BACK 158 260 1.28e-40 SMART
Kelch 308 353 1.09e-9 SMART
Kelch 354 400 1.28e-15 SMART
Kelch 401 447 1.58e-15 SMART
Kelch 448 496 3.15e-15 SMART
Kelch 497 543 3.25e-17 SMART
Kelch 544 591 1.43e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209919
Predicted Effect probably damaging
Transcript: ENSMUST00000210166
AA Change: R252W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,971,447 V276I probably benign Het
Acss2 T A 2: 155,555,884 W289R probably damaging Het
Alpk2 A G 18: 65,349,480 S19P probably damaging Het
Ano3 T C 2: 110,697,199 probably benign Het
Atxn1 G A 13: 45,567,204 S405F probably damaging Het
Atxn2 A G 5: 121,781,387 Y386C probably damaging Het
Bach2 T A 4: 32,575,334 L643* probably null Het
Ccl22 T A 8: 94,749,879 L91Q probably damaging Het
Cdc40 A G 10: 40,867,859 Y81H probably benign Het
Col5a3 C A 9: 20,799,306 R549M unknown Het
Eif3e A T 15: 43,266,137 N198K probably benign Het
Emp2 A G 16: 10,284,511 Y146H probably damaging Het
Impg1 G A 9: 80,440,755 L66F possibly damaging Het
Itsn1 A G 16: 91,820,676 probably benign Het
Khdrbs3 T C 15: 69,049,394 Y187H probably damaging Het
Klhdc7a T A 4: 139,967,156 H160L probably benign Het
Krba1 C T 6: 48,413,087 T595I probably damaging Het
Myo9b G T 8: 71,358,993 D1887Y possibly damaging Het
Olfm4 C T 14: 80,021,770 T453I probably damaging Het
Sin3a A G 9: 57,107,559 N688S possibly damaging Het
Slc47a1 A G 11: 61,370,124 V150A probably damaging Het
Sptbn4 A G 7: 27,364,299 L2234P probably damaging Het
Trpm4 C T 7: 45,322,115 V166M possibly damaging Het
Usp54 A T 14: 20,589,395 F156L probably damaging Het
Vmn2r32 A T 7: 7,464,144 F795Y probably damaging Het
Other mutations in Klhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Klhl2 APN 8 64749086 missense probably benign
IGL01111:Klhl2 APN 8 64749047 missense probably damaging 1.00
IGL01620:Klhl2 APN 8 64779738 missense probably damaging 1.00
IGL01878:Klhl2 APN 8 64759824 missense probably damaging 0.97
IGL02664:Klhl2 APN 8 64752767 nonsense probably null
IGL02828:Klhl2 APN 8 64779757 missense probably damaging 1.00
IGL03162:Klhl2 APN 8 64754392 missense probably damaging 0.99
R0315:Klhl2 UTSW 8 64743019 nonsense probably null
R0482:Klhl2 UTSW 8 64758130 missense probably benign 0.30
R1803:Klhl2 UTSW 8 64759797 missense probably damaging 0.99
R1853:Klhl2 UTSW 8 64823006 missense probably benign 0.03
R2155:Klhl2 UTSW 8 64749770 missense probably benign 0.38
R2965:Klhl2 UTSW 8 64752760 missense probably benign 0.01
R2979:Klhl2 UTSW 8 64823078 missense probably damaging 1.00
R3980:Klhl2 UTSW 8 64743075 missense probably damaging 1.00
R3980:Klhl2 UTSW 8 64743081 missense probably damaging 1.00
R4597:Klhl2 UTSW 8 64754387 missense probably damaging 1.00
R4627:Klhl2 UTSW 8 64758191 nonsense probably null
R4825:Klhl2 UTSW 8 64752813 missense probably damaging 1.00
R4854:Klhl2 UTSW 8 64834459 missense possibly damaging 0.91
R5448:Klhl2 UTSW 8 64822990 critical splice donor site probably null
R5945:Klhl2 UTSW 8 64749728 missense probably benign
R5961:Klhl2 UTSW 8 64749784 missense probably damaging 1.00
R6218:Klhl2 UTSW 8 64752767 nonsense probably null
R6290:Klhl2 UTSW 8 64811699 missense possibly damaging 0.75
R6334:Klhl2 UTSW 8 64759808 missense probably benign 0.00
R6595:Klhl2 UTSW 8 64743043 nonsense probably null
R6847:Klhl2 UTSW 8 64759782 missense probably damaging 1.00
R6863:Klhl2 UTSW 8 64823091 missense probably benign
R7086:Klhl2 UTSW 8 64823012 missense probably damaging 1.00
R7493:Klhl2 UTSW 8 64749775 missense probably damaging 1.00
R8061:Klhl2 UTSW 8 64758223 missense probably damaging 1.00
R8243:Klhl2 UTSW 8 64749050 missense probably benign
Z1176:Klhl2 UTSW 8 64758126 missense probably damaging 1.00
Posted On2015-04-16