Incidental Mutation 'IGL01474:Klhl14'
ID88372
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? Probably non essential (E-score: 0.159) question?
Stock #IGL01474
Quality Score
Status
Chromosome18
Chromosomal Location21550377-21654718 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 21557854 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 513 (H513P)
Ref Sequence ENSEMBL: ENSMUSP00000113755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049105] [ENSMUST00000122333]
Predicted Effect probably damaging
Transcript: ENSMUST00000049105
AA Change: H513P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: H513P

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: H513P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: H513P

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,772,783 K336I possibly damaging Het
Acsbg2 A G 17: 56,861,621 I166T possibly damaging Het
Bpifc T A 10: 86,000,639 M1L probably damaging Het
Ccnb2 T A 9: 70,419,023 N44I probably benign Het
Cdc73 C T 1: 143,671,332 V276M probably benign Het
Cnot7 A G 8: 40,507,449 probably null Het
Col11a1 T A 3: 114,217,134 probably benign Het
Coro1c T C 5: 113,882,155 probably benign Het
Crocc A G 4: 141,035,392 probably benign Het
Dync2h1 A T 9: 7,102,493 Y396N probably benign Het
Gm2888 T A 14: 3,032,041 D116E probably damaging Het
Gm29326 A T 7: 29,562,589 noncoding transcript Het
Gm9774 G T 3: 92,428,343 Q351K probably damaging Het
Greb1 A G 12: 16,684,501 V1496A probably benign Het
Hdac7 A G 15: 97,797,939 probably null Het
Hectd4 A G 5: 121,336,649 T2778A possibly damaging Het
Hist2h2bb A G 3: 96,269,809 probably benign Het
Hivep2 A T 10: 14,143,662 H2059L probably damaging Het
Ift88 A T 14: 57,478,074 I525F probably benign Het
Itga5 G A 15: 103,354,270 Q324* probably null Het
Lama5 A T 2: 180,196,570 D837E probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Muc6 C A 7: 141,651,307 C215F probably damaging Het
Myh15 A G 16: 49,132,098 K844E probably damaging Het
Neb A G 2: 52,328,905 V31A unknown Het
Nipbl A G 15: 8,311,209 I2009T possibly damaging Het
Olfr700 A G 7: 106,805,940 I174T probably benign Het
Piwil2 T C 14: 70,398,218 R536G probably benign Het
Pld3 A G 7: 27,532,619 V412A probably damaging Het
Prkaa2 A C 4: 105,049,332 probably null Het
Rdh9 T C 10: 127,790,945 L289P probably damaging Het
Rusc2 C T 4: 43,416,434 S580L probably damaging Het
Sidt2 A G 9: 45,946,982 probably null Het
Slc18b1 A T 10: 23,803,850 K92N probably benign Het
Slc20a2 G A 8: 22,535,557 V92M possibly damaging Het
Slc4a11 A T 2: 130,685,544 F644I probably damaging Het
Spata31d1d A T 13: 59,730,215 probably benign Het
Spef2 T C 15: 9,663,158 M846V probably benign Het
Syncrip T C 9: 88,480,747 T3A probably benign Het
Other mutations in Klhl14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Klhl14 APN 18 21651864 missense probably benign 0.00
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
IGL03354:Klhl14 APN 18 21651728 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 intron probably null
R4886:Klhl14 UTSW 18 21557972 intron 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
T0722:Klhl14 UTSW 18 21558135 missense probably damaging 1.00
X0026:Klhl14 UTSW 18 21651941 missense possibly damaging 0.94
Posted On2013-11-18