Incidental Mutation 'R6298:Katnip'
ID 508901
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 044408-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6298 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125469869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1446 (V1446A)
Ref Sequence ENSEMBL: ENSMUSP00000065744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223]
AlphaFold Q8C753
Predicted Effect probably benign
Transcript: ENSMUST00000069660
AA Change: V1446A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V1446A

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 unknown
Transcript: ENSMUST00000124223
AA Change: V1420A
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V1420A

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 unknown
Transcript: ENSMUST00000132204
AA Change: V156A
SMART Domains Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743
AA Change: V156A

DomainStartEndE-ValueType
Pfam:DUF4457 1 143 3.6e-51 PFAM
Pfam:DUF4457 139 219 2.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205462
Meta Mutation Damage Score 0.0923 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,539,833 (GRCm39) M733L probably benign Het
Acss3 G A 10: 106,920,717 (GRCm39) P131L probably damaging Het
Adgrv1 T A 13: 81,539,886 (GRCm39) I5678F probably benign Het
Aff1 C T 5: 103,902,586 (GRCm39) L6F possibly damaging Het
Ank3 G T 10: 69,686,006 (GRCm39) R273L probably damaging Het
Anks1b G A 10: 90,516,699 (GRCm39) G898D probably damaging Het
Anxa11 C T 14: 25,873,158 (GRCm39) P131S unknown Het
Ap4e1 T A 2: 126,889,035 (GRCm39) M500K probably benign Het
Bag3 T C 7: 128,141,922 (GRCm39) S138P probably damaging Het
Capn9 T C 8: 125,344,193 (GRCm39) V670A probably benign Het
Ccne2 T A 4: 11,199,306 (GRCm39) W236R probably damaging Het
Cdh23 A T 10: 60,262,451 (GRCm39) Y702* probably null Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cit A T 5: 116,086,124 (GRCm39) E896V probably damaging Het
Cntln T A 4: 85,014,998 (GRCm39) N1096K probably damaging Het
Cntnap5c T C 17: 58,411,747 (GRCm39) C544R probably damaging Het
Csf1 A T 3: 107,655,675 (GRCm39) L452Q possibly damaging Het
Cts8 T A 13: 61,397,037 (GRCm39) K294N possibly damaging Het
Dcakd T G 11: 102,890,618 (GRCm39) E56D possibly damaging Het
Dnah17 T C 11: 117,998,987 (GRCm39) I929V probably benign Het
Dnah2 G T 11: 69,382,467 (GRCm39) H1214Q probably benign Het
Dock9 T C 14: 121,872,006 (GRCm39) D536G probably damaging Het
Drc3 A G 11: 60,284,596 (GRCm39) N467S possibly damaging Het
Dysf A G 6: 84,084,118 (GRCm39) probably null Het
Ecpas T G 4: 58,877,157 (GRCm39) T93P probably damaging Het
Evpl A T 11: 116,121,748 (GRCm39) L378Q probably damaging Het
Fer1l4 A T 2: 155,866,660 (GRCm39) H1520Q probably damaging Het
Fhod1 A T 8: 106,063,780 (GRCm39) probably benign Het
Gabra1 T A 11: 42,073,205 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm14137 A G 2: 119,005,572 (GRCm39) T44A possibly damaging Het
H2bl1 T A 13: 99,120,974 (GRCm39) R17S probably benign Het
Herc2 T C 7: 55,841,013 (GRCm39) M3444T probably benign Het
Igsf5 T C 16: 96,197,648 (GRCm39) S208P possibly damaging Het
Ino80b A G 6: 83,102,066 (GRCm39) L12P possibly damaging Het
Insrr A G 3: 87,720,272 (GRCm39) D970G probably damaging Het
Iqcf4 G A 9: 106,445,874 (GRCm39) A91V probably benign Het
Itga10 A G 3: 96,564,078 (GRCm39) T911A probably benign Het
Klhl30 A T 1: 91,285,086 (GRCm39) D314V probably benign Het
Lpcat1 T C 13: 73,659,074 (GRCm39) V330A possibly damaging Het
Myef2l T C 3: 10,154,239 (GRCm39) I336T probably damaging Het
Nhlrc3 A T 3: 53,359,944 (GRCm39) D306E possibly damaging Het
Notum T A 11: 120,548,766 (GRCm39) I187F probably damaging Het
Nphp3 T C 9: 103,892,640 (GRCm39) L288P probably damaging Het
Ntrk2 G T 13: 59,019,570 (GRCm39) E394* probably null Het
Or6k2 T A 1: 173,979,748 (GRCm39) V222D probably benign Het
Pbld2 A G 10: 62,874,931 (GRCm39) K63E probably benign Het
Phc2 T C 4: 128,641,982 (GRCm39) M768T possibly damaging Het
Pik3c2g G A 6: 139,603,561 (GRCm39) C249Y probably damaging Het
Plod1 G A 4: 148,000,772 (GRCm39) probably benign Het
Plscr2 A T 9: 92,172,772 (GRCm39) T9S probably benign Het
Pnrc1 T A 4: 33,246,315 (GRCm39) M215L probably benign Het
Prcp G T 7: 92,577,841 (GRCm39) C370F probably damaging Het
Pter A G 2: 12,983,205 (GRCm39) N70S probably damaging Het
Ptprt G T 2: 161,395,779 (GRCm39) H1131Q probably damaging Het
Rasal2 T C 1: 157,239,432 (GRCm39) D8G possibly damaging Het
Rcn2 A C 9: 55,960,209 (GRCm39) K159Q probably benign Het
Rex2 T A 4: 147,141,972 (GRCm39) C153* probably null Het
Rps6ka2 T C 17: 7,437,766 (GRCm39) F8S possibly damaging Het
Samd9l A G 6: 3,375,383 (GRCm39) L626S probably damaging Het
Sptb A G 12: 76,667,428 (GRCm39) probably null Het
Srgap3 A T 6: 112,793,571 (GRCm39) V135D probably damaging Het
Srsf7 T C 17: 80,514,682 (GRCm39) probably benign Het
Tacc2 A G 7: 130,228,255 (GRCm39) T1647A probably benign Het
Thap12 G T 7: 98,352,612 (GRCm39) A6S probably damaging Het
Tmem33 T A 5: 67,425,894 (GRCm39) L146* probably null Het
Trip13 C A 13: 74,084,378 (GRCm39) E36* probably null Het
Vkorc1l1 T A 5: 129,971,079 (GRCm39) C23S probably damaging Het
Vmn1r20 G A 6: 57,409,112 (GRCm39) R146H probably benign Het
Vmn1r222 T A 13: 23,416,965 (GRCm39) I83F probably benign Het
Vmn2r107 A T 17: 20,576,044 (GRCm39) I125F probably benign Het
Vmn2r116 A G 17: 23,605,736 (GRCm39) D216G probably damaging Het
Vwa3a C T 7: 120,394,874 (GRCm39) T898I probably benign Het
Wdfy3 T C 5: 102,116,812 (GRCm39) D76G probably damaging Het
Wdhd1 T C 14: 47,510,579 (GRCm39) D148G possibly damaging Het
Xylt1 T C 7: 117,255,960 (GRCm39) I844T probably damaging Het
Zfp106 A T 2: 120,353,185 (GRCm39) V1535D probably damaging Het
Zfp385b A T 2: 77,244,323 (GRCm39) L315Q possibly damaging Het
Zfp458 T A 13: 67,404,870 (GRCm39) H523L probably damaging Het
Zfp712 T C 13: 67,189,393 (GRCm39) H378R probably damaging Het
Zic1 T C 9: 91,246,556 (GRCm39) Y172C 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
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
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 PCR Primer
(F):5'- TTCCCAGACTGCTAAAGTATAGGG -3'
(R):5'- AGCCTGGAAGGACTATACCC -3'

Sequencing Primer
(F):5'- ACTGCTAAAGTATAGGGCACCAGC -3'
(R):5'- GGACTATACCCACAGCTGTTAG -3'
Posted On 2018-04-02