Incidental Mutation 'R0234:Katnip'
ID 66016
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 038475-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0234 (G1)
Quality Score 220
Status Not validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125394557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 211 (V211A)
Ref Sequence ENSEMBL: ENSMUSP00000118668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223]
AlphaFold Q8C753
Predicted Effect probably benign
Transcript: ENSMUST00000069660
AA Change: V237A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V237A

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 noncoding transcript
Transcript: ENSMUST00000122337
SMART Domains Protein: ENSMUSP00000113734
Gene: ENSMUSG00000032743

DomainStartEndE-ValueType
Pfam:DUF4457 173 344 2.7e-9 PFAM
Pfam:DUF4457 218 394 3.2e-10 PFAM
low complexity region 444 458 N/A INTRINSIC
Pfam:DUF4457 660 742 1.1e-14 PFAM
Pfam:DUF4457 733 863 2.6e-31 PFAM
Pfam:DUF4457 944 1008 5.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124223
AA Change: V211A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V211A

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.1%
  • 20x: 83.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,660,941 (GRCm39) R197G possibly damaging Het
Acacb A T 5: 114,347,878 (GRCm39) H983L probably damaging Het
Adal T A 2: 120,978,798 (GRCm39) D139E probably benign Het
Adam6b G A 12: 113,454,230 (GRCm39) R349H probably damaging Het
Agap1 A G 1: 89,598,934 (GRCm39) K331E probably damaging Het
B3gat1 A G 9: 26,667,377 (GRCm39) E203G probably damaging Het
Bsn T C 9: 107,993,595 (GRCm39) E719G possibly damaging Het
Cap2 G C 13: 46,791,498 (GRCm39) probably null Het
Ccni A G 5: 93,350,186 (GRCm39) V31A probably benign Het
Cdcp3 T A 7: 130,796,032 (GRCm39) probably null Het
Clns1a T A 7: 97,363,239 (GRCm39) Y204N possibly damaging Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Dsp A G 13: 38,371,869 (GRCm39) N940S probably benign Het
Erbb2 T C 11: 98,327,265 (GRCm39) V1181A probably benign Het
Exoc4 T C 6: 33,839,022 (GRCm39) V686A possibly damaging Het
F830045P16Rik A G 2: 129,305,384 (GRCm39) V330A possibly damaging Het
Fbf1 A C 11: 116,045,860 (GRCm39) F245V probably damaging Het
Fut10 T A 8: 31,726,225 (GRCm39) F327I probably damaging Het
Galnt1 C T 18: 24,387,690 (GRCm39) P144S probably damaging Het
Garin4 T C 1: 190,895,105 (GRCm39) S513G probably benign Het
Ghrhr A T 6: 55,356,171 (GRCm39) D88V possibly damaging Het
Greb1l T A 18: 10,560,331 (GRCm39) C1864S probably damaging Het
H1f2 T C 13: 23,923,106 (GRCm39) I92T probably benign Het
Hps1 T C 19: 42,750,992 (GRCm39) E336G probably damaging Het
Irgc C A 7: 24,132,753 (GRCm39) E21D possibly damaging Het
Itsn1 A T 16: 91,625,168 (GRCm39) R590* probably null Het
Lmln T C 16: 32,886,694 (GRCm39) V67A probably damaging Het
Lsm14a T C 7: 34,065,042 (GRCm39) Q179R probably damaging Het
Ltbr A C 6: 125,289,836 (GRCm39) D119E probably benign Het
Mrc1 A G 2: 14,284,705 (GRCm39) T565A possibly damaging Het
Muc6 A C 7: 141,235,939 (GRCm39) N473K possibly damaging Het
Myocd A T 11: 65,078,066 (GRCm39) D448E probably benign Het
Neil2 T A 14: 63,420,975 (GRCm39) I239F probably damaging Het
Npnt A G 3: 132,620,175 (GRCm39) F123S possibly damaging Het
Or2g25 T A 17: 37,970,997 (GRCm39) I76F probably damaging Het
Or4f15 T C 2: 111,813,645 (GRCm39) Y258C probably damaging Het
Or52x1 C A 7: 104,852,821 (GRCm39) C243F probably damaging Het
Or56a5 T C 7: 104,793,281 (GRCm39) D73G probably damaging Het
Or5d37 T A 2: 87,923,366 (GRCm39) R305* probably null Het
Or8d1b A C 9: 38,887,547 (GRCm39) probably null Het
Or9i2 C T 19: 13,815,902 (GRCm39) V212M possibly damaging Het
Pcnx3 T C 19: 5,722,646 (GRCm39) T941A probably benign Het
Pitrm1 C A 13: 6,625,115 (GRCm39) Y864* probably null Het
Plcb4 T C 2: 135,823,995 (GRCm39) I844T probably benign Het
Ppp1r3b T A 8: 35,851,655 (GRCm39) F165I probably damaging Het
Prr5 T A 15: 84,587,322 (GRCm39) F357L probably damaging Het
Rbm15b T C 9: 106,762,563 (GRCm39) Y535C probably damaging Het
Rbp3 A T 14: 33,677,858 (GRCm39) E602V probably damaging Het
Rimklb T C 6: 122,433,292 (GRCm39) N343S probably benign Het
Rrp12 A G 19: 41,860,199 (GRCm39) L1008P probably damaging Het
Sec63 C T 10: 42,674,794 (GRCm39) R226C probably damaging Het
Sirpa T C 2: 129,457,388 (GRCm39) V154A probably damaging Het
Slc22a23 G A 13: 34,367,244 (GRCm39) T588I probably damaging Het
Slc22a27 C A 19: 7,904,156 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a5 A T 8: 71,342,277 (GRCm39) M258K probably damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Stk11ip A G 1: 75,505,711 (GRCm39) D460G possibly damaging Het
Syn3 T A 10: 86,284,750 (GRCm39) I117F possibly damaging Het
Tead4 C T 6: 128,220,365 (GRCm39) A224T probably damaging Het
Tmtc3 A T 10: 100,286,184 (GRCm39) N546K probably benign Het
Tnn T A 1: 159,916,036 (GRCm39) H1227L probably damaging Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Trf T C 9: 103,104,078 (GRCm39) probably null Het
Ubr5 T C 15: 37,968,737 (GRCm39) T2727A probably damaging Het
Vmn2r27 T A 6: 124,208,578 (GRCm39) T56S probably benign Het
Wipf3 T G 6: 54,473,486 (GRCm39) L458R probably damaging Het
Zfp236 T C 18: 82,648,119 (GRCm39) K966R probably damaging Het
Zfp27 T A 7: 29,593,532 (GRCm39) H811L possibly damaging Het
Zfp366 A G 13: 99,370,768 (GRCm39) H496R probably damaging Het
Zfp467 A T 6: 48,415,689 (GRCm39) V321E 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
IGL01545:Katnip APN 7 125,352,143 (GRCm39) critical splice acceptor site probably null
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
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
Predicted Primers
Posted On 2013-08-19