Incidental Mutation 'R8058:Katnip'
ID 619543
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 067495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125442188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 725 (E725G)
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: E725G

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: E725G

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: E699G

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: E699G

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: 99.6%
  • 20x: 98.8%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,081,954 (GRCm39) D769N possibly damaging Het
Abcb6 A G 1: 75,156,653 (GRCm39) L37P possibly damaging Het
Abcg1 G T 17: 31,324,504 (GRCm39) A250S probably benign Het
Acsf3 C T 8: 123,540,373 (GRCm39) H524Y possibly damaging Het
Agbl4 A G 4: 110,518,039 (GRCm39) K110R unknown Het
Arfgap2 G A 2: 91,096,644 (GRCm39) probably null Het
B4galt4 T C 16: 38,586,383 (GRCm39) probably null Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
C8b A T 4: 104,647,811 (GRCm39) D334V probably damaging Het
Capn11 T C 17: 45,954,681 (GRCm39) Q152R probably null Het
Ccdc171 C A 4: 83,499,003 (GRCm39) Q234K probably damaging Het
Cemip2 C A 19: 21,829,695 (GRCm39) A1268E probably benign Het
Clec2h A G 6: 128,650,966 (GRCm39) D82G probably benign Het
Creld2 A G 15: 88,710,632 (GRCm39) D349G probably damaging Het
D430041D05Rik A G 2: 103,979,128 (GRCm39) *1415Q probably null Het
Dnmt3a T C 12: 3,952,768 (GRCm39) V755A possibly damaging Het
Doc2a G T 7: 126,450,164 (GRCm39) V201L probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 G T 2: 125,193,889 (GRCm39) D1359E possibly damaging Het
Fcnb T C 2: 27,969,707 (GRCm39) Y120C probably damaging Het
Fras1 T A 5: 96,842,778 (GRCm39) D1665E probably benign Het
Fry A T 5: 150,419,232 (GRCm39) D524V Het
Garem1 A G 18: 21,281,621 (GRCm39) L245P probably damaging Het
Gdf6 A G 4: 9,859,712 (GRCm39) S265G probably benign Het
Gm5591 T C 7: 38,218,363 (GRCm39) I837V probably benign Het
Gpr61 T C 3: 108,058,211 (GRCm39) Y150C probably damaging Het
Grin2b A T 6: 135,710,225 (GRCm39) L1107Q probably damaging Het
Helb A G 10: 119,941,483 (GRCm39) S402P probably benign Het
Htt A G 5: 34,977,444 (GRCm39) T777A probably benign Het
Iffo2 A G 4: 139,341,164 (GRCm39) D383G probably benign Het
Ikzf3 G T 11: 98,407,753 (GRCm39) Y29* probably null Het
Ints2 A T 11: 86,146,179 (GRCm39) M143K probably benign Het
Jmjd1c T C 10: 67,090,274 (GRCm39) V2292A not run Het
Lamb1 C A 12: 31,353,046 (GRCm39) Q916K probably benign Het
Lrrtm4 G A 6: 79,999,528 (GRCm39) M313I probably benign Het
Lum A G 10: 97,404,425 (GRCm39) I107V probably benign Het
Ly6h T C 15: 75,437,061 (GRCm39) E126G probably benign Het
Map3k5 G A 10: 20,007,860 (GRCm39) V1230M probably damaging Het
Mcoln1 T C 8: 3,558,378 (GRCm39) F211L probably benign Het
Mink1 G A 11: 70,494,594 (GRCm39) W258* probably null Het
Muc16 G T 9: 18,571,298 (GRCm39) S407* probably null Het
Ngef G A 1: 87,473,744 (GRCm39) Q13* probably null Het
Nxpe5 T A 5: 138,237,573 (GRCm39) Y44* probably null Het
Or13d1 T A 4: 52,971,106 (GRCm39) L162M probably benign Het
Or4a77 A G 2: 89,487,671 (GRCm39) V38A probably benign Het
Or5t9 A G 2: 86,660,052 (GRCm39) R319G probably benign Het
Or7e178 T A 9: 20,225,476 (GRCm39) I247F probably damaging Het
Or8g24 A T 9: 38,989,862 (GRCm39) Y60N probably damaging Het
Or8h8 C A 2: 86,753,151 (GRCm39) A242S probably benign Het
Orc3 C A 4: 34,595,223 (GRCm39) E249* probably null Het
Otogl A T 10: 107,598,287 (GRCm39) C2288S probably damaging Het
Pde1b A G 15: 103,433,238 (GRCm39) E249G probably damaging Het
Phf2 T C 13: 48,976,558 (GRCm39) E219G unknown Het
Rbm19 T A 5: 120,278,440 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Sbk2 A G 7: 4,960,289 (GRCm39) Y294H possibly damaging Het
Selenoo T C 15: 88,976,942 (GRCm39) I198T possibly damaging Het
Sema3f T C 9: 107,559,800 (GRCm39) E729G probably benign Het
Serpinb1b A T 13: 33,269,293 (GRCm39) T9S probably benign Het
Sfxn4 T C 19: 60,832,690 (GRCm39) T235A probably damaging Het
Shc4 A T 2: 125,491,154 (GRCm39) Y461* probably null Het
Slc22a15 T C 3: 101,771,926 (GRCm39) D391G probably benign Het
Slc22a23 G T 13: 34,489,167 (GRCm39) Y239* probably null Het
Slc24a2 G A 4: 86,909,750 (GRCm39) A656V probably damaging Het
Slc2a5 A T 4: 150,227,590 (GRCm39) I470F probably damaging Het
Sptbn4 T C 7: 27,063,694 (GRCm39) E2249G possibly damaging Het
Tas2r139 A T 6: 42,118,753 (GRCm39) Q295L probably benign Het
Tdrd7 C A 4: 46,034,309 (GRCm39) S1051R probably benign Het
Tnfrsf18 G A 4: 156,112,802 (GRCm39) A163T probably benign Het
Ube3b T C 5: 114,544,846 (GRCm39) V596A possibly damaging Het
Vmn2r10 T A 5: 109,149,955 (GRCm39) N363I probably benign Het
Vmn2r15 T A 5: 109,440,956 (GRCm39) I301F probably damaging Het
Yod1 C T 1: 130,646,806 (GRCm39) Q228* probably null Het
Zfp433 A T 10: 81,556,124 (GRCm39) K209* probably null Het
Zfp865 G A 7: 5,033,445 (GRCm39) V477I probably benign Het
Zfp937 T A 2: 150,081,421 (GRCm39) Y484N probably benign Het
Zfp951 T G 5: 104,962,312 (GRCm39) H418P 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
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
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'- GCGGAATCCTTGGATATGACAG -3'
(R):5'- CCAGGAGTATCACCCATGAC -3'

Sequencing Primer
(F):5'- CGGAATCCTTGGATATGACAGTTTCC -3'
(R):5'- AGATGGAAACCTGCTCTTCTG -3'
Posted On 2020-01-23