Incidental Mutation 'IGL01545:Katnip'
ID 90320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01545
Quality Score
Status
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 125352143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223] [ENSMUST00000148701]
AlphaFold Q8C753
Predicted Effect probably null
Transcript: ENSMUST00000069660
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743

DomainStartEndE-ValueType
internal_repeat_3 442 586 9.64e-5 PROSPERO
internal_repeat_2 454 607 1.91e-6 PROSPERO
low complexity region 704 718 N/A INTRINSIC
Pfam:DUF4457 909 1099 5.1e-43 PFAM
Pfam:DUF4457 1205 1524 8.4e-149 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124223
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743

DomainStartEndE-ValueType
internal_repeat_3 416 560 8.9e-5 PROSPERO
internal_repeat_2 428 581 1.74e-6 PROSPERO
low complexity region 678 692 N/A INTRINSIC
Pfam:DUF4457 882 1073 1.4e-39 PFAM
Pfam:DUF4457 1179 1498 2.2e-145 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142464
Predicted Effect probably null
Transcript: ENSMUST00000148701
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit variable obstructive hydrocephaly and enlarged lateral ventricles resulting from a blockage of cerebrospinal fluid flow in the cerebral aqueduct but show no gross defects in ventricular ependymal cilium structure or motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,376,228 (GRCm39) S213L probably benign Het
Adgrv1 A G 13: 81,614,303 (GRCm39) I4030T possibly damaging Het
Ap4b1 G A 3: 103,720,143 (GRCm39) R55H probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Atp6v1h T A 1: 5,159,282 (GRCm39) M55K probably benign Het
B3galt4 A C 17: 34,170,187 (GRCm39) V17G probably benign Het
Cd79a A T 7: 24,600,691 (GRCm39) M172L probably benign Het
Cry1 A T 10: 85,020,226 (GRCm39) L37H possibly damaging Het
D5Ertd615e A T 5: 45,326,755 (GRCm39) noncoding transcript Het
Dnah17 A T 11: 118,010,394 (GRCm39) L308Q probably damaging Het
Dnah7a C T 1: 53,557,941 (GRCm39) A2158T probably benign Het
Dusp2 A G 2: 127,179,695 (GRCm39) T313A probably benign Het
Fam110c T C 12: 31,124,982 (GRCm39) S315P probably damaging Het
Fcer2a G A 8: 3,733,598 (GRCm39) R198* probably null Het
Fryl G A 5: 73,211,940 (GRCm39) T2359M probably damaging Het
Gm14221 G A 2: 160,410,303 (GRCm39) noncoding transcript Het
Gpc6 T G 14: 118,202,242 (GRCm39) L484R probably damaging Het
Igdcc3 G A 9: 65,087,355 (GRCm39) V298M probably damaging Het
Impg2 T A 16: 56,046,080 (GRCm39) probably benign Het
Iqca1 T A 1: 89,973,364 (GRCm39) M803L probably benign Het
Itga4 T C 2: 79,146,314 (GRCm39) probably benign Het
Kidins220 T C 12: 25,090,459 (GRCm39) F1141S possibly damaging Het
Kif7 A G 7: 79,352,026 (GRCm39) I912T probably damaging Het
Klhl38 G A 15: 58,185,854 (GRCm39) R292W probably damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Map4k4 T C 1: 40,053,389 (GRCm39) probably benign Het
Mbd4 A T 6: 115,827,758 (GRCm39) D39E probably damaging Het
Mrm2 A G 5: 140,317,010 (GRCm39) V8A probably benign Het
Myod1 A T 7: 46,026,539 (GRCm39) E148V probably damaging Het
Or5d47 A C 2: 87,804,895 (GRCm39) I38S probably benign Het
Pdcd10 A T 3: 75,448,475 (GRCm39) F30I possibly damaging Het
Ptcd1 T A 5: 145,096,346 (GRCm39) H249L probably damaging Het
Ptcd3 A T 6: 71,865,561 (GRCm39) D451E probably benign Het
Rab44 C A 17: 29,366,351 (GRCm39) S680R unknown Het
Rad21l A T 2: 151,497,084 (GRCm39) D340E probably benign Het
Ranbp2 T C 10: 58,314,703 (GRCm39) F1808L possibly damaging Het
Rnf122 T C 8: 31,618,630 (GRCm39) V126A probably damaging Het
Slc25a47 G T 12: 108,820,142 (GRCm39) V49L probably benign Het
Slc36a2 T C 11: 55,075,633 (GRCm39) probably null Het
Sorl1 G A 9: 41,955,252 (GRCm39) R668W probably damaging Het
Tbx19 T A 1: 164,966,725 (GRCm39) N383I possibly damaging Het
Tenm4 A G 7: 96,523,510 (GRCm39) H1676R probably benign Het
Tgm5 G T 2: 120,883,289 (GRCm39) R351S probably damaging Het
Tmem106b A G 6: 13,071,842 (GRCm39) S34G probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Ubr4 G A 4: 139,170,140 (GRCm39) probably benign Het
Wfdc11 A G 2: 164,507,365 (GRCm39) probably null Het
Xrn2 T A 2: 146,880,099 (GRCm39) I474K probably benign Het
Zfp827 A G 8: 79,797,063 (GRCm39) K383R probably damaging Het
Other mutations in Katnip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Katnip APN 7 125,394,622 (GRCm39) missense possibly damaging 0.75
IGL00950:Katnip APN 7 125,442,393 (GRCm39) missense probably benign
IGL01089:Katnip APN 7 125,394,485 (GRCm39) missense probably damaging 1.00
IGL01099:Katnip APN 7 125,464,492 (GRCm39) missense probably damaging 1.00
IGL01449:Katnip APN 7 125,469,857 (GRCm39) missense probably damaging 1.00
IGL01937:Katnip APN 7 125,453,777 (GRCm39) missense probably benign 0.13
IGL01949:Katnip APN 7 125,361,014 (GRCm39) nonsense probably null
IGL02096:Katnip APN 7 125,413,993 (GRCm39) missense probably benign 0.09
IGL02148:Katnip APN 7 125,472,648 (GRCm39) splice site probably null
IGL02274:Katnip APN 7 125,369,742 (GRCm39) critical splice acceptor site probably null
IGL02323:Katnip APN 7 125,442,001 (GRCm39) missense probably benign 0.04
IGL02574:Katnip APN 7 125,428,925 (GRCm39) missense possibly damaging 0.48
IGL02639:Katnip APN 7 125,471,964 (GRCm39) missense probably damaging 1.00
IGL02833:Katnip APN 7 125,449,584 (GRCm39) nonsense probably null
IGL03003:Katnip APN 7 125,451,132 (GRCm39) missense probably damaging 1.00
IGL03011:Katnip APN 7 125,451,174 (GRCm39) missense probably benign 0.01
IGL03332:Katnip APN 7 125,419,277 (GRCm39) nonsense probably null
IGL03368:Katnip APN 7 125,468,030 (GRCm39) intron probably benign
E0370:Katnip UTSW 7 125,449,474 (GRCm39) missense probably benign 0.06
PIT4498001:Katnip UTSW 7 125,412,768 (GRCm39) missense probably benign
R0033:Katnip UTSW 7 125,360,999 (GRCm39) missense possibly damaging 0.77
R0033:Katnip UTSW 7 125,360,999 (GRCm39) missense possibly damaging 0.77
R0234:Katnip UTSW 7 125,394,557 (GRCm39) missense probably benign 0.00
R0234:Katnip UTSW 7 125,394,557 (GRCm39) missense probably benign 0.00
R0472:Katnip UTSW 7 125,472,139 (GRCm39) missense probably damaging 0.98
R0479:Katnip UTSW 7 125,442,518 (GRCm39) missense probably benign 0.20
R1195:Katnip UTSW 7 125,465,654 (GRCm39) missense probably damaging 1.00
R1195:Katnip UTSW 7 125,465,654 (GRCm39) missense probably damaging 1.00
R1195:Katnip UTSW 7 125,465,654 (GRCm39) missense probably damaging 1.00
R1223:Katnip UTSW 7 125,359,595 (GRCm39) missense possibly damaging 0.75
R1299:Katnip UTSW 7 125,451,195 (GRCm39) missense probably benign
R1331:Katnip UTSW 7 125,465,627 (GRCm39) missense probably benign 0.00
R1484:Katnip UTSW 7 125,415,743 (GRCm39) splice site probably benign
R1507:Katnip UTSW 7 125,465,524 (GRCm39) missense probably damaging 1.00
R1562:Katnip UTSW 7 125,442,020 (GRCm39) missense probably damaging 1.00
R1992:Katnip UTSW 7 125,419,261 (GRCm39) missense probably benign 0.00
R2008:Katnip UTSW 7 125,459,738 (GRCm39) missense probably damaging 1.00
R2010:Katnip UTSW 7 125,472,128 (GRCm39) missense possibly damaging 0.93
R2147:Katnip UTSW 7 125,464,492 (GRCm39) missense probably damaging 1.00
R2508:Katnip UTSW 7 125,394,515 (GRCm39) missense probably benign
R3015:Katnip UTSW 7 125,465,512 (GRCm39) missense probably damaging 1.00
R3794:Katnip UTSW 7 125,419,261 (GRCm39) missense probably benign 0.00
R3795:Katnip UTSW 7 125,419,261 (GRCm39) missense probably benign 0.00
R4043:Katnip UTSW 7 125,467,913 (GRCm39) missense probably benign 0.30
R4044:Katnip UTSW 7 125,467,913 (GRCm39) missense probably benign 0.30
R4692:Katnip UTSW 7 125,466,841 (GRCm39) critical splice donor site probably null
R4772:Katnip UTSW 7 125,464,523 (GRCm39) missense probably damaging 0.96
R5155:Katnip UTSW 7 125,471,356 (GRCm39) missense probably damaging 1.00
R5467:Katnip UTSW 7 125,442,527 (GRCm39) missense possibly damaging 0.65
R5551:Katnip UTSW 7 125,419,249 (GRCm39) missense probably damaging 1.00
R5560:Katnip UTSW 7 125,453,733 (GRCm39) missense probably benign 0.00
R5662:Katnip UTSW 7 125,441,875 (GRCm39) missense probably benign 0.00
R5667:Katnip UTSW 7 125,442,627 (GRCm39) critical splice donor site probably null
R5838:Katnip UTSW 7 125,466,827 (GRCm39) missense possibly damaging 0.88
R5958:Katnip UTSW 7 125,412,807 (GRCm39) missense probably benign 0.01
R5983:Katnip UTSW 7 125,449,545 (GRCm39) missense probably damaging 1.00
R6084:Katnip UTSW 7 125,414,037 (GRCm39) missense probably benign
R6241:Katnip UTSW 7 125,472,006 (GRCm39) missense probably benign 0.00
R6298:Katnip UTSW 7 125,469,869 (GRCm39) missense probably benign 0.11
R6345:Katnip UTSW 7 125,352,159 (GRCm39) missense probably damaging 0.97
R6554:Katnip UTSW 7 125,449,914 (GRCm39) missense probably damaging 1.00
R6715:Katnip UTSW 7 125,361,001 (GRCm39) nonsense probably null
R6745:Katnip UTSW 7 125,369,822 (GRCm39) missense probably benign 0.00
R7178:Katnip UTSW 7 125,465,499 (GRCm39) missense probably benign 0.00
R7210:Katnip UTSW 7 125,471,411 (GRCm39) missense probably damaging 1.00
R7404:Katnip UTSW 7 125,464,434 (GRCm39) missense probably damaging 1.00
R7561:Katnip UTSW 7 125,441,894 (GRCm39) missense probably benign
R7571:Katnip UTSW 7 125,307,193 (GRCm39) unclassified probably benign
R7584:Katnip UTSW 7 125,469,838 (GRCm39) missense probably damaging 0.99
R7629:Katnip UTSW 7 125,394,422 (GRCm39) missense probably damaging 0.96
R7676:Katnip UTSW 7 125,449,549 (GRCm39) missense probably benign 0.26
R7748:Katnip UTSW 7 125,428,973 (GRCm39) missense probably benign 0.00
R7786:Katnip UTSW 7 125,464,466 (GRCm39) missense probably benign 0.19
R8058:Katnip UTSW 7 125,442,188 (GRCm39) missense probably benign 0.17
R8154:Katnip UTSW 7 125,412,802 (GRCm39) missense probably damaging 0.98
R8204:Katnip UTSW 7 125,449,914 (GRCm39) missense probably damaging 1.00
R8359:Katnip UTSW 7 125,468,023 (GRCm39) critical splice donor site probably null
R8700:Katnip UTSW 7 125,429,042 (GRCm39) splice site probably benign
R8812:Katnip UTSW 7 125,396,867 (GRCm39) missense probably benign 0.26
R8942:Katnip UTSW 7 125,449,975 (GRCm39) missense probably damaging 1.00
R9216:Katnip UTSW 7 125,471,926 (GRCm39) missense probably damaging 1.00
R9254:Katnip UTSW 7 125,469,848 (GRCm39) missense probably damaging 1.00
R9263:Katnip UTSW 7 125,469,867 (GRCm39) missense probably damaging 1.00
R9379:Katnip UTSW 7 125,469,848 (GRCm39) missense probably damaging 1.00
R9601:Katnip UTSW 7 125,442,092 (GRCm39) missense probably benign 0.04
R9657:Katnip UTSW 7 125,441,956 (GRCm39) missense probably benign
U24488:Katnip UTSW 7 125,369,853 (GRCm39) missense probably damaging 0.96
Posted On 2013-12-03