Incidental Mutation 'IGL03162:Klhl2'
ID411469
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 #IGL03162
Quality Score
Status
Chromosome8
Chromosomal Location64739675-64850017 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64754392 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 311 (V311A)
Ref Sequence ENSEMBL: ENSMUSP00000034017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034017] [ENSMUST00000210166]
Predicted Effect probably damaging
Transcript: ENSMUST00000034017
AA Change: V311A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: V311A

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: ENSMUST00000209919
Predicted Effect probably damaging
Transcript: ENSMUST00000210166
AA Change: V311A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Adh6a T A 3: 138,329,119 Y336* probably null Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
E2f6 T A 12: 16,818,908 D77E probably benign Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Nr3c2 A T 8: 77,217,584 D816V probably damaging Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Olfr518 T C 7: 108,881,604 M1V probably null Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Recql4 G T 15: 76,706,096 probably null Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Vpreb3 A G 10: 75,949,299 Y77C probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V probably benign 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
IGL02333:Klhl2 APN 8 64759750 missense probably damaging 1.00
IGL02664:Klhl2 APN 8 64752767 nonsense probably null
IGL02828:Klhl2 APN 8 64779757 missense probably damaging 1.00
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 On2016-08-02