Incidental Mutation 'R8942:Katnip'
ID 681045
Institutional Source Beutler Lab
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 # R8942 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 125449975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1013 (L1013R)
Ref Sequence ENSEMBL: ENSMUSP00000118668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223]
AlphaFold Q8C753
Predicted Effect probably damaging
Transcript: ENSMUST00000069660
AA Change: L1039R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: L1039R

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 damaging
Transcript: ENSMUST00000124223
AA Change: L1013R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: L1013R

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,732 (GRCm39) D833E probably damaging Het
Adgrl3 A T 5: 81,796,568 (GRCm39) I626L probably benign Het
AI182371 A C 2: 34,990,622 (GRCm39) L25R probably damaging Het
Atp2b2 G T 6: 113,790,991 (GRCm39) Q138K probably benign Het
Atp8b5 T C 4: 43,353,658 (GRCm39) F491L probably damaging Het
Bcap29 T A 12: 31,684,353 (GRCm39) M1L probably damaging Het
C1qtnf7 A G 5: 43,773,583 (GRCm39) D294G probably benign Het
Ccdc170 C T 10: 4,484,044 (GRCm39) A290V probably benign Het
Cfhr2 A T 1: 139,741,292 (GRCm39) L228I probably benign Het
Clip4 T A 17: 72,170,768 (GRCm39) V645D probably benign Het
Cyp4a31 C T 4: 115,426,918 (GRCm39) R173W possibly damaging Het
Dis3l T C 9: 64,214,875 (GRCm39) K898R probably benign Het
Efr3b G T 12: 4,032,091 (GRCm39) H172Q possibly damaging Het
Eipr1 A T 12: 28,917,053 (GRCm39) N374Y probably damaging Het
Exoc3l4 A T 12: 111,392,002 (GRCm39) E414D possibly damaging Het
Exoc3l4 G T 12: 111,392,003 (GRCm39) V415L probably benign Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Gapvd1 T C 2: 34,619,134 (GRCm39) T80A probably benign Het
Gen1 A G 12: 11,292,287 (GRCm39) S501P probably benign Het
Gm10643 A G 8: 84,790,799 (GRCm39) probably benign Het
Hecw1 A T 13: 14,481,395 (GRCm39) V445D probably benign Het
Hells CT C 19: 38,942,045 (GRCm39) probably null Het
Hnrnpr T G 4: 136,059,791 (GRCm39) D197E possibly damaging Het
Hspb1 G A 5: 135,916,928 (GRCm39) V6M probably damaging Het
Iglon5 A G 7: 43,126,315 (GRCm39) V196A probably benign Het
Ints2 T C 11: 86,103,720 (GRCm39) T1142A probably benign Het
Kcnq2 T A 2: 180,724,244 (GRCm39) D587V probably damaging Het
Lmln C T 16: 32,901,330 (GRCm39) P242L probably damaging Het
Mapt G A 11: 104,173,307 (GRCm39) probably null Het
Mrgpre T C 7: 143,335,002 (GRCm39) Y167C Het
Mtx2 A T 2: 74,699,696 (GRCm39) I156F probably benign Het
Nipbl A T 15: 8,381,104 (GRCm39) S563T probably benign Het
Nmbr C T 10: 14,646,197 (GRCm39) S357L probably benign Het
Or10ak14 A T 4: 118,611,594 (GRCm39) I49N possibly damaging Het
Or4e1 A C 14: 52,700,692 (GRCm39) I258S probably damaging Het
Or4f14 T A 2: 111,743,207 (GRCm39) I23F probably benign Het
Or4f60 T C 2: 111,902,802 (GRCm39) N42S probably damaging Het
Or4k15b A C 14: 50,272,602 (GRCm39) L86R probably damaging Het
Or4p4 C T 2: 88,483,308 (GRCm39) L271F possibly damaging Het
Pctp A G 11: 89,875,554 (GRCm39) M203T possibly damaging Het
Pip4k2c A G 10: 127,036,084 (GRCm39) V261A probably benign Het
Pm20d1 G T 1: 131,739,785 (GRCm39) V378F possibly damaging Het
Ppcdc C T 9: 57,342,265 (GRCm39) R19H probably benign Het
Pramel26 T C 4: 143,536,861 (GRCm39) N490S probably benign Het
Sdk1 A G 5: 142,082,598 (GRCm39) E1332G probably damaging Het
Sgce G T 6: 4,730,027 (GRCm39) L66M probably benign Het
Sycp2l G T 13: 41,277,522 (GRCm39) probably null Het
Tars1 G T 15: 11,384,183 (GRCm39) H695N probably benign Het
Tdo2 A G 3: 81,876,851 (GRCm39) V107A probably benign Het
Tmem131l A T 3: 83,805,793 (GRCm39) M1550K possibly damaging Het
Ttf2 A C 3: 100,869,042 (GRCm39) S431R probably benign Het
Unc80 A G 1: 66,512,468 (GRCm39) D126G possibly damaging Het
Usp17lb C T 7: 104,490,583 (GRCm39) V115I possibly damaging Het
Vezf1 A G 11: 87,972,553 (GRCm39) T305A probably benign Het
Vmn1r45 A T 6: 89,910,876 (GRCm39) N31K probably benign Het
Wdr59 T C 8: 112,211,808 (GRCm39) K380E probably benign Het
Xylt1 T A 7: 117,233,971 (GRCm39) Y499* probably null Het
Zfp777 T C 6: 48,006,125 (GRCm39) E467G probably benign Het
Zkscan4 C A 13: 21,668,680 (GRCm39) P406Q probably benign 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
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
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'- GTCTACATGGGGAGACAGACAC -3'
(R):5'- GTACCTCCCATCAGAGTTCCTG -3'

Sequencing Primer
(F):5'- CAGACACTATGTTGGCCTTAACGG -3'
(R):5'- AGGCTTTGGCAATTTCTCCTTCAAAG -3'
Posted On 2021-08-31