Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Katnip'

84551

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

125307060-125473965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125469857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1442 (V1442D)

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: V1442D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: V1442D

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000124223
AA Change: V1416D

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: V1416D

Domain	Start	End	E-Value	Type
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: V152D

SMART Domains

Protein: ENSMUSP00000115955
Gene: ENSMUSG00000032743
AA Change: V152D

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,198,693 (GRCm39)	L33F	probably benign	Het
Actr8	T	C	14: 29,712,927 (GRCm39)		probably null	Het
Aldh16a1	C	A	7: 44,791,391 (GRCm39)	A105S	probably damaging	Het
Angpt2	T	C	8: 18,760,641 (GRCm39)	T154A	probably benign	Het
BC051665	A	G	13: 60,930,518 (GRCm39)	V278A	probably damaging	Het
Cap1	T	C	4: 122,753,980 (GRCm39)	T458A	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,632,978 (GRCm39)	D408G	probably benign	Het
Fam217b	T	A	2: 178,062,943 (GRCm39)	S302R	probably damaging	Het
Fcho2	A	T	13: 98,926,315 (GRCm39)	D89E	probably benign	Het
Fnip1	C	T	11: 54,390,334 (GRCm39)	R434C	probably damaging	Het
Gga3	G	A	11: 115,479,928 (GRCm39)	T261M	probably damaging	Het
Gm21985	T	C	2: 112,169,741 (GRCm39)	F292L	probably damaging	Het
Gm43638	A	T	5: 87,634,074 (GRCm39)	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,657,748 (GRCm39)	G68E	probably damaging	Het
Lpcat2	G	A	8: 93,597,775 (GRCm39)	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,218,527 (GRCm39)	A1984T	possibly damaging	Het
Npy4r	T	A	14: 33,868,322 (GRCm39)	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,962,937 (GRCm39)	H840Q	probably damaging	Het
Or7g26	G	A	9: 19,230,529 (GRCm39)	G233D	probably damaging	Het
Osbpl2	G	T	2: 179,786,987 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,728,530 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,921 (GRCm39)		probably benign	Het
Ppp1r16a	A	G	15: 76,578,494 (GRCm39)		probably benign	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prkcg	A	G	7: 3,368,135 (GRCm39)	D343G	probably benign	Het
Scaf11	A	C	15: 96,317,007 (GRCm39)	S852R	probably benign	Het
Slc31a2	C	T	4: 62,210,933 (GRCm39)	T22I	probably damaging	Het
Sox30	T	A	11: 45,872,169 (GRCm39)	D341E	probably damaging	Het
Tle4	A	G	19: 14,442,704 (GRCm39)	S339P	probably benign	Het
Tsg101	A	T	7: 46,558,673 (GRCm39)	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,629,630 (GRCm39)	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,631,129 (GRCm39)	S142T	probably benign	Het
Ubr4	C	A	4: 139,140,047 (GRCm39)	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,315,635 (GRCm39)	P172Q	probably damaging	Het
Usp12	T	C	5: 146,691,250 (GRCm39)	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,529,916 (GRCm39)	M287L	probably benign	Het
Vwa8	C	T	14: 79,420,428 (GRCm39)	Q1710*	probably null	Het
Wdfy4	T	A	14: 32,825,994 (GRCm39)	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,190,616 (GRCm39)	T145A	probably benign	Het
Zfp697	T	C	3: 98,334,846 (GRCm39)	C204R	probably damaging	Het

Other mutations in Katnip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-11-11