Incidental Mutation 'IGL03354:Klhl14'
ID419865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl14
Ensembl Gene ENSMUSG00000042514
Gene Namekelch-like 14
Synonymsprintor, 6330403N15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.693) question?
Stock #IGL03354
Quality Score
Status
Chromosome18
Chromosomal Location21550377-21654718 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21651728 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 214 (D214V)
Ref Sequence ENSEMBL: ENSMUSP00000113755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049105] [ENSMUST00000122333]
Predicted Effect probably damaging
Transcript: ENSMUST00000049105
AA Change: D214V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: D214V

DomainStartEndE-ValueType
BTB 33 183 6.57e-25 SMART
BACK 191 281 2.61e-9 SMART
Kelch 325 374 1.63e-1 SMART
Kelch 375 426 3.66e-2 SMART
Kelch 427 473 5.05e-14 SMART
Kelch 474 520 1.79e-5 SMART
Kelch 521 572 3.06e-4 SMART
Kelch 573 622 5.29e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122333
AA Change: D214V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: D214V

DomainStartEndE-ValueType
BTB 33 183 6.57e-25 SMART
BACK 191 281 2.61e-9 SMART
Kelch 325 374 1.63e-1 SMART
Kelch 375 426 3.66e-2 SMART
Kelch 427 473 5.05e-14 SMART
Kelch 474 520 1.79e-5 SMART
Kelch 521 572 3.06e-4 SMART
Kelch 573 622 5.29e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144487
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Camk2d T C 3: 126,796,966 probably null Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cd200r3 C T 16: 44,953,597 A124V possibly damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Cyp2d12 A T 15: 82,558,961 D357V probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Plekho2 T C 9: 65,559,421 E129G probably null Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rars A G 11: 35,824,475 L248P probably damaging Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Klhl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Klhl14 APN 18 21651864 missense probably benign 0.00
IGL01474:Klhl14 APN 18 21557854 missense probably damaging 0.99
IGL02005:Klhl14 APN 18 21624611 nonsense probably null
IGL02108:Klhl14 APN 18 21557920 missense probably damaging 0.98
IGL02371:Klhl14 APN 18 21652181 missense probably damaging 1.00
P0027:Klhl14 UTSW 18 21558135 missense probably damaging 1.00
PIT4810001:Klhl14 UTSW 18 21557823 nonsense probably null
R0288:Klhl14 UTSW 18 21565563 missense probably damaging 1.00
R1419:Klhl14 UTSW 18 21652193 missense probably damaging 0.99
R1606:Klhl14 UTSW 18 21565532 missense possibly damaging 0.94
R1771:Klhl14 UTSW 18 21651620 missense probably damaging 0.97
R1928:Klhl14 UTSW 18 21651786 missense probably damaging 1.00
R1966:Klhl14 UTSW 18 21554673 missense probably damaging 1.00
R3624:Klhl14 UTSW 18 21557896 missense probably damaging 1.00
R4541:Klhl14 UTSW 18 21554639 nonsense probably null
R4664:Klhl14 UTSW 18 21554708 missense probably benign 0.06
R4856:Klhl14 UTSW 18 21557972 splice site probably null
R4886:Klhl14 UTSW 18 21557972 splice site probably null
R4893:Klhl14 UTSW 18 21557935 missense probably damaging 1.00
R5393:Klhl14 UTSW 18 21651994 missense probably benign 0.30
R5757:Klhl14 UTSW 18 21554734 missense probably damaging 1.00
R5951:Klhl14 UTSW 18 21651620 missense probably damaging 0.97
R5958:Klhl14 UTSW 18 21565535 missense probably damaging 0.99
R7231:Klhl14 UTSW 18 21652136 missense probably damaging 0.99
R7519:Klhl14 UTSW 18 21651843 missense probably benign 0.36
R7527:Klhl14 UTSW 18 21651540 missense probably damaging 0.99
R7573:Klhl14 UTSW 18 21652154 missense probably benign 0.00
R7664:Klhl14 UTSW 18 21554649 missense probably damaging 1.00
R7737:Klhl14 UTSW 18 21558134 nonsense probably null
R8079:Klhl14 UTSW 18 21651965 missense probably benign 0.39
T0722:Klhl14 UTSW 18 21558135 missense probably damaging 1.00
X0026:Klhl14 UTSW 18 21651941 missense possibly damaging 0.94
Z1177:Klhl14 UTSW 18 21652104 missense probably benign 0.00
Posted On2016-08-02