Incidental Mutation 'R1507:Katnip'
ID 167993
Institutional Source Beutler Lab
Gene Symbol Katnip
Ensembl Gene ENSMUSG00000032743
Gene Name katanin interacting protein
Synonyms D430042O09Rik
MMRRC Submission 039555-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1507 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 125307060-125473965 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125465524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1325 (D1325E)
Ref Sequence ENSEMBL: ENSMUSP00000065744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223]
AlphaFold Q8C753
Predicted Effect probably damaging
Transcript: ENSMUST00000069660
AA Change: D1325E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: D1325E

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 unknown
Transcript: ENSMUST00000124223
AA Change: D1299E
SMART Domains Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: D1299E

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: D72E
SMART Domains Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743
AA Change: D72E

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 0.7366 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 100% (66/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik T G 2: 154,391,539 (GRCm39) V102G probably benign Het
Adgrv1 T C 13: 81,620,699 (GRCm39) probably null Het
Ahnak T A 19: 8,987,441 (GRCm39) D2908E probably damaging Het
Aox1 A G 1: 58,143,610 (GRCm39) M1243V probably benign Het
Apobec2 T C 17: 48,730,003 (GRCm39) D221G possibly damaging Het
Bcas1 T C 2: 170,208,348 (GRCm39) D472G probably damaging Het
Btnl7-ps T A 17: 34,760,437 (GRCm39) noncoding transcript Het
Cd209d G T 8: 3,928,453 (GRCm39) Q11K possibly damaging Het
Cdc14a G A 3: 116,087,646 (GRCm39) T455I possibly damaging Het
Cep120 A G 18: 53,830,729 (GRCm39) S843P probably damaging Het
Cped1 A T 6: 22,122,260 (GRCm39) H380L probably damaging Het
Derl2 A T 11: 70,898,171 (GRCm39) W233R probably benign Het
Drd5 A T 5: 38,478,065 (GRCm39) I353F probably damaging Het
E330034G19Rik A T 14: 24,357,055 (GRCm39) Q197L possibly damaging Het
Edil3 T A 13: 89,279,831 (GRCm39) S170T probably damaging Het
Gldc T A 19: 30,096,038 (GRCm39) T658S probably damaging Het
Gpr146 A G 5: 139,379,124 (GRCm39) M309V probably benign Het
H2bc18 A G 3: 96,177,189 (GRCm39) Y41C probably damaging Het
Hexim2 T A 11: 103,029,147 (GRCm39) C66* probably null Het
Htr2a T C 14: 74,943,419 (GRCm39) V333A probably damaging Het
Igdcc4 A G 9: 65,041,026 (GRCm39) E1065G probably damaging Het
Kcnk9 T A 15: 72,384,083 (GRCm39) E365V possibly damaging Het
Kif28 T A 1: 179,563,571 (GRCm39) N135I probably damaging Het
Kmt2a A T 9: 44,729,700 (GRCm39) probably benign Het
Lamb2 A T 9: 108,367,581 (GRCm39) I1788F probably damaging Het
Lsm6 G A 8: 79,539,608 (GRCm39) R31* probably null Het
Mical3 T A 6: 121,019,199 (GRCm39) T8S probably benign Het
Ncapg2 T C 12: 116,424,186 (GRCm39) F1123S probably benign Het
Nprl2 A G 9: 107,420,191 (GRCm39) D30G probably benign Het
Or51l4 C T 7: 103,404,228 (GRCm39) R188H probably benign Het
Or5ac24 A T 16: 59,165,856 (GRCm39) D69E probably damaging Het
Or8b51 A T 9: 38,569,310 (GRCm39) I126N probably damaging Het
Parvg T A 15: 84,214,359 (GRCm39) V181E probably damaging Het
Pfas T C 11: 68,880,860 (GRCm39) T1106A probably benign Het
Plekhh1 A T 12: 79,126,224 (GRCm39) T1310S probably damaging Het
Potegl A G 2: 23,098,086 (GRCm39) Y88C probably damaging Het
Ptprj A G 2: 90,301,631 (GRCm39) V74A possibly damaging Het
Rapgef2 A T 3: 78,988,600 (GRCm39) probably benign Het
Rfx3 G T 19: 27,745,913 (GRCm39) T731K probably benign Het
Rnf31 A T 14: 55,836,439 (GRCm39) K634* probably null Het
Scp2 CACTTTAATAATACTTT CACTTT 4: 107,944,209 (GRCm39) probably null Het
Set A G 2: 29,959,106 (GRCm39) H101R probably damaging Het
Slc30a6 G T 17: 74,715,857 (GRCm39) V106F probably damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Spaca3 G A 11: 80,753,983 (GRCm39) R40H probably damaging Het
Srpra G A 9: 35,126,766 (GRCm39) R508H probably benign Het
Ston2 A T 12: 91,608,454 (GRCm39) I882N probably benign Het
Tenm3 A G 8: 48,740,857 (GRCm39) S1209P probably benign Het
Tmprss11g T C 5: 86,647,470 (GRCm39) T23A probably benign Het
Topors A G 4: 40,261,829 (GRCm39) V485A probably damaging Het
Tpgs1 T A 10: 79,511,620 (GRCm39) L254Q probably damaging Het
Traf3 A C 12: 111,227,194 (GRCm39) T336P probably benign Het
Ttn T A 2: 76,710,934 (GRCm39) probably benign Het
Ubr5 G A 15: 37,981,114 (GRCm39) R2388W probably damaging Het
Unc13a A G 8: 72,110,910 (GRCm39) S434P probably benign Het
Usp33 A G 3: 152,080,400 (GRCm39) I510M possibly damaging Het
Vmn1r65 C A 7: 6,012,108 (GRCm39) G42V probably benign Het
Xab2 A G 8: 3,666,031 (GRCm39) L262S possibly damaging Het
Yap1 A T 9: 7,953,141 (GRCm39) probably benign Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zfp609 A G 9: 65,702,059 (GRCm39) Y198H possibly damaging Het
Zfp629 T A 7: 127,211,033 (GRCm39) K259* probably null 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
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
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'- AAGCTCTCAGTAAGCACAGTGCC -3'
(R):5'- AGGACCTGTTACAATTTGCCCCTG -3'

Sequencing Primer
(F):5'- CCCAGACAGGACTTAGCAGTG -3'
(R):5'- GGCAAACCTCACTTGGCTTATAC -3'
Posted On 2014-04-13