Incidental Mutation 'R5560:Katnip'
ID 501192
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 043117-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5560 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125453733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1150 (V1150A)
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: V1176A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V1176A

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: V1150A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V1150A

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 noncoding transcript
Transcript: ENSMUST00000205462
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adipor1 T C 1: 134,353,778 (GRCm39) W188R possibly damaging Het
Agrn T C 4: 156,262,954 (GRCm39) D441G probably damaging Het
Ankrd55 T C 13: 112,520,024 (GRCm39) S570P probably benign Het
Ano9 C G 7: 140,690,395 (GRCm39) G80R probably damaging Het
Arhgef2 T A 3: 88,541,744 (GRCm39) V250E probably damaging Het
Atp2b2 T C 6: 113,751,319 (GRCm39) D583G possibly damaging Het
Bcar3 T A 3: 122,220,224 (GRCm39) D40E possibly damaging Het
Capn12 A G 7: 28,582,285 (GRCm39) D133G probably benign Het
Ccna1 A T 3: 54,955,990 (GRCm39) Y269N probably damaging Het
Cct6b A T 11: 82,632,239 (GRCm39) Y250N probably damaging Het
Cep112 A C 11: 108,328,061 (GRCm39) K98Q probably damaging Het
Chst13 T C 6: 90,295,251 (GRCm39) D54G probably damaging Het
Clstn2 G T 9: 97,351,872 (GRCm39) H518N possibly damaging Het
Cntnap1 T A 11: 101,073,261 (GRCm39) L581M probably damaging Het
Cog3 T A 14: 75,966,833 (GRCm39) M446L probably damaging Het
Dennd2c T A 3: 103,068,871 (GRCm39) I756K probably damaging Het
Dennd3 T G 15: 73,404,744 (GRCm39) L273R probably damaging Het
Dhx34 C A 7: 15,952,466 (GRCm39) R53L probably benign Het
Dnah9 G A 11: 65,772,566 (GRCm39) T3722I probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dusp6 A G 10: 99,102,103 (GRCm39) Y217C probably damaging Het
Dync2i1 T C 12: 116,181,733 (GRCm39) S769G probably damaging Het
Dyrk1b G A 7: 27,883,678 (GRCm39) R178Q possibly damaging Het
Eif4g1 T A 16: 20,505,645 (GRCm39) C1009S probably benign Het
Frmpd1 A T 4: 45,243,697 (GRCm39) T57S probably damaging Het
Gask1a T C 9: 121,807,289 (GRCm39) F478L possibly damaging Het
Gjc2 A G 11: 59,068,185 (GRCm39) V99A possibly damaging Het
Gm9955 A T 18: 24,842,149 (GRCm39) probably benign Het
Gpr158 A G 2: 21,831,101 (GRCm39) I734V possibly damaging Het
H1f2 A G 13: 23,923,390 (GRCm39) S187G probably benign Het
Herc1 A T 9: 66,358,401 (GRCm39) H2494L probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmgcs1 A G 13: 120,161,351 (GRCm39) probably null Het
Invs A T 4: 48,416,084 (GRCm39) T655S probably benign Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Kcnj6 A T 16: 94,633,824 (GRCm39) L96M probably benign Het
Lfng A G 5: 140,600,022 (GRCm39) D354G possibly damaging Het
Lgsn T C 1: 31,235,953 (GRCm39) L139P probably damaging Het
Madd C A 2: 90,993,890 (GRCm39) V923L probably damaging Het
Mical1 A T 10: 41,354,961 (GRCm39) I157F probably damaging Het
Mis18bp1 T C 12: 65,199,590 (GRCm39) N154S possibly damaging Het
Mrps14 A G 1: 160,023,105 (GRCm39) K6R probably benign Het
Mug1 T A 6: 121,838,032 (GRCm39) C421S probably damaging Het
Myo18b A G 5: 113,016,161 (GRCm39) I696T probably damaging Het
Naf1 T C 8: 67,336,197 (GRCm39) Y375H probably damaging Het
Nsf T A 11: 103,754,081 (GRCm39) E485V possibly damaging Het
Nup188 A G 2: 30,199,897 (GRCm39) D307G probably damaging Het
Ocel1 C A 8: 71,825,122 (GRCm39) P108T probably damaging Het
Oip5 A G 2: 119,443,540 (GRCm39) S177P probably damaging Het
Omg A G 11: 79,392,584 (GRCm39) W425R possibly damaging Het
Or1ad8 A C 11: 50,898,350 (GRCm39) I184L possibly damaging Het
Or1l4 A G 2: 37,091,942 (GRCm39) I230V probably benign Het
Or5an10 G A 19: 12,276,008 (GRCm39) Q163* probably null Het
Or8g26 A C 9: 39,095,480 (GRCm39) E2A probably benign Het
Pikfyve A G 1: 65,292,566 (GRCm39) Y1339C probably damaging Het
Polr3e A G 7: 120,522,172 (GRCm39) D6G possibly damaging Het
Pou4f3 C A 18: 42,528,480 (GRCm39) P141Q probably benign Het
Rcsd1 T A 1: 165,483,070 (GRCm39) N337I possibly damaging Het
Rhoj C T 12: 75,438,486 (GRCm39) P91S probably damaging Het
Rnf10 A G 5: 115,388,057 (GRCm39) F367S probably damaging Het
Rnft1 A T 11: 86,384,022 (GRCm39) R307S probably benign Het
Ryr3 A T 2: 112,585,222 (GRCm39) F2788Y probably damaging Het
Scgb1c1 A G 7: 140,426,137 (GRCm39) K78E possibly damaging Het
Scn5a G T 9: 119,389,352 (GRCm39) A123E probably damaging Het
Setd2 T A 9: 110,378,907 (GRCm39) Y623* probably null Het
Slc49a3 A T 5: 108,596,729 (GRCm39) M1K probably null Het
Spmap2l A G 5: 77,164,333 (GRCm39) D112G possibly damaging Het
Tbl2 C T 5: 135,186,445 (GRCm39) Q216* probably null Het
Tnc A G 4: 63,926,946 (GRCm39) I860T probably damaging Het
Trafd1 T C 5: 121,511,366 (GRCm39) K484R possibly damaging Het
Trank1 T C 9: 111,219,635 (GRCm39) V2124A probably damaging Het
Trpm4 A T 7: 44,959,756 (GRCm39) W713R probably damaging Het
Uap1l1 T C 2: 25,252,688 (GRCm39) T451A probably benign Het
Uba6 A T 5: 86,279,119 (GRCm39) C668S probably damaging Het
Ubxn11 T C 4: 133,853,935 (GRCm39) F441S probably damaging Het
Vmn1r22 C T 6: 57,877,723 (GRCm39) V85M probably damaging Het
Vmn2r72 T A 7: 85,401,150 (GRCm39) I90L probably damaging Het
Zfp330 T C 8: 83,491,585 (GRCm39) E196G probably benign Het
Zfp746 A G 6: 48,059,108 (GRCm39) V167A possibly damaging Het
Zfp994 T C 17: 22,420,694 (GRCm39) E85G possibly 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
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 PCR Primer
(F):5'- AGTCTGAATACTCTGTTGTTGCC -3'
(R):5'- AGTCCAGATTTGCAGTGGGC -3'

Sequencing Primer
(F):5'- GAATACTCTGTTGTTGCCCCTTGG -3'
(R):5'- CACATGGGTGGCCTAGGTAC -3'
Posted On 2017-12-01