Incidental Mutation 'R7561:Katnip'
ID 585127
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 045654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125441894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 627 (S627L)
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: S627L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: S627L

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 benign
Transcript: ENSMUST00000124223
AA Change: S601L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: S601L

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,341,314 (GRCm39) N314K probably benign Het
A430005L14Rik T A 4: 154,045,097 (GRCm39) I80N probably benign Het
Abca2 A G 2: 25,336,707 (GRCm39) H2271R probably damaging Het
Acad8 T C 9: 26,890,538 (GRCm39) I257V probably benign Het
Acot12 A T 13: 91,918,243 (GRCm39) T179S probably damaging Het
Adcy10 A G 1: 165,386,741 (GRCm39) R1155G possibly damaging Het
Adcy9 C T 16: 4,236,028 (GRCm39) C461Y probably damaging Het
Adgrf1 G A 17: 43,622,000 (GRCm39) V746I possibly damaging Het
Agbl1 C A 7: 76,348,509 (GRCm39) Q869K unknown Het
AI837181 T G 19: 5,476,491 (GRCm39) V218G probably damaging Het
Alg9 T C 9: 50,754,074 (GRCm39) S585P possibly damaging Het
Arhgef38 T C 3: 132,866,489 (GRCm39) Q216R Het
Asb4 A T 6: 5,430,968 (GRCm39) H401L possibly damaging Het
Atg7 G T 6: 114,650,002 (GRCm39) A60S possibly damaging Het
Atp10a T A 7: 58,476,881 (GRCm39) C1199S probably damaging Het
Blm G A 7: 80,152,276 (GRCm39) A557V probably damaging Het
Cbln1 A T 8: 88,198,624 (GRCm39) M82K probably benign Het
Ccdc183 T G 2: 25,501,529 (GRCm39) I293L probably benign Het
Col6a3 A G 1: 90,703,463 (GRCm39) S3035P unknown Het
Cux2 A T 5: 122,017,931 (GRCm39) S206T probably benign Het
Cyfip2 T C 11: 46,161,425 (GRCm39) D355G probably benign Het
Dhrs2 A G 14: 55,474,698 (GRCm39) H111R probably benign Het
Eif3b T G 5: 140,428,109 (GRCm39) D781E probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fermt1 A T 2: 132,758,008 (GRCm39) I469N probably benign Het
Fgf20 G T 8: 40,732,975 (GRCm39) N154K possibly damaging Het
Fndc10 T A 4: 155,779,328 (GRCm39) V124E probably damaging Het
Fra10ac1 T C 19: 38,210,324 (GRCm39) D13G probably damaging Het
Gpatch1 A G 7: 35,008,800 (GRCm39) S74P probably damaging Het
Gramd1b G A 9: 40,312,911 (GRCm39) T19I unknown Het
Grm8 T C 6: 27,429,524 (GRCm39) T457A probably benign Het
Gucy2g C A 19: 55,194,772 (GRCm39) V882L probably benign Het
Hectd4 G A 5: 121,429,288 (GRCm39) R811H possibly damaging Het
Hk1 C T 10: 62,116,807 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il10ra T A 9: 45,167,117 (GRCm39) D480V probably benign Het
Il18rap A T 1: 40,563,537 (GRCm39) H22L probably benign Het
Inpp5a T A 7: 139,147,338 (GRCm39) I321N probably damaging Het
Insyn1 A G 9: 58,406,687 (GRCm39) D199G probably damaging Het
Kat2b T G 17: 53,948,286 (GRCm39) L352R probably benign Het
Kcna1 A T 6: 126,619,108 (GRCm39) V404E probably damaging Het
Mcm3ap T A 10: 76,328,712 (GRCm39) V1110E possibly damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Mpdz A T 4: 81,225,388 (GRCm39) N1368K probably damaging Het
Mpzl3 G T 9: 44,966,610 (GRCm39) V24F probably benign Het
Mybph G A 1: 134,121,465 (GRCm39) probably null Het
Ncam1 G T 9: 49,476,242 (GRCm39) D282E probably damaging Het
Ntrk2 G A 13: 59,009,202 (GRCm39) C331Y probably benign Het
Nwd2 T A 5: 63,964,434 (GRCm39) C1339* probably null Het
Or3a1d T C 11: 74,238,436 (GRCm39) probably benign Het
Or5b98 T C 19: 12,931,403 (GRCm39) V150A probably benign Het
Or8k33 T C 2: 86,383,661 (GRCm39) D269G probably benign Het
Osbpl6 C A 2: 76,416,498 (GRCm39) T672N probably damaging Het
Pds5b T C 5: 150,662,783 (GRCm39) probably null Het
Perm1 A G 4: 156,303,217 (GRCm39) N587S probably benign Het
Pex7 A T 10: 19,770,012 (GRCm39) C165* probably null Het
Pik3r4 A G 9: 105,564,446 (GRCm39) T1347A possibly damaging Het
Pitpnm3 T C 11: 71,942,008 (GRCm39) D933G probably benign Het
Rnf213 T A 11: 119,332,545 (GRCm39) F2586I Het
Scn10a A G 9: 119,523,390 (GRCm39) M1T probably null Het
Sdhaf3 T A 6: 6,956,079 (GRCm39) L18Q not run Het
Septin7 A G 9: 25,209,151 (GRCm39) E256G possibly damaging Het
Slc35b2 A G 17: 45,877,727 (GRCm39) T236A probably damaging Het
Slc4a4 G A 5: 89,347,556 (GRCm39) G766R probably damaging Het
Slco6c1 G T 1: 97,000,691 (GRCm39) S537Y probably damaging Het
Srp68 T C 11: 116,139,593 (GRCm39) E452G probably damaging Het
Taf2 A T 15: 54,919,229 (GRCm39) M382K probably benign Het
Tas2r131 A G 6: 132,933,921 (GRCm39) L296P probably benign Het
Tlr9 A G 9: 106,103,148 (GRCm39) E813G probably benign Het
Trmt44 T C 5: 35,715,336 (GRCm39) E659G possibly damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Unc45a G T 7: 79,981,334 (GRCm39) S489R possibly damaging Het
Xrn1 T C 9: 95,881,511 (GRCm39) V795A probably benign Het
Zbtb22 A T 17: 34,136,952 (GRCm39) T366S probably benign Het
Zcchc10 T A 11: 53,215,545 (GRCm39) H6Q probably benign Het
Zfp60 A G 7: 27,447,955 (GRCm39) K208E probably damaging Het
Zfp780b A T 7: 27,664,037 (GRCm39) C173S possibly damaging Het
Zfp786 C A 6: 47,796,667 (GRCm39) R757L probably benign Het
Zfp936 G A 7: 42,839,339 (GRCm39) A269T probably damaging Het
Zfp976 T C 7: 42,265,701 (GRCm39) Y29C 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
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
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'- CACAGTTTGACACATCAGTCTGG -3'
(R):5'- TCCTGTAACTTGGACAAACTGTTC -3'

Sequencing Primer
(F):5'- GACACATCAGTCTGGTGACATATG -3'
(R):5'- TCTTCAGGCCAGATGTAGAATTCACC -3'
Posted On 2019-10-17