Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00950:Katnip'

27861

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 #

IGL00950

Quality Score

Status

Chromosome

Chromosomal Location

125307060-125473965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125442393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 767 (D767E)

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: D793E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: D793E

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

noncoding transcript
Transcript: ENSMUST00000122337

SMART Domains

Protein: ENSMUSP00000113734
Gene: ENSMUSG00000032743

Domain	Start	End	E-Value	Type
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: D767E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: D767E

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,770,660 (GRCm39)	V923A	possibly damaging	Het
Als2	G	A	1: 59,254,541 (GRCm39)	A272V	probably benign	Het
Aoc1l1	A	C	6: 48,955,065 (GRCm39)	N635T	possibly damaging	Het
Chrne	C	T	11: 70,509,983 (GRCm39)		probably benign	Het
Dhx34	C	T	7: 15,933,751 (GRCm39)	R947H	probably damaging	Het
Dnah7b	A	T	1: 46,253,482 (GRCm39)	M1796L	probably benign	Het
Dstyk	C	T	1: 132,387,726 (GRCm39)	T820I	probably damaging	Het
Eif4g1	A	G	16: 20,502,378 (GRCm39)	K942E	probably damaging	Het
Fbn1	C	T	2: 125,200,743 (GRCm39)	G1318E	probably damaging	Het
Galnt5	T	C	2: 57,889,144 (GRCm39)	V248A	probably benign	Het
Gcnt4	A	G	13: 97,083,064 (GRCm39)	Y120C	probably damaging	Het
Gdf5	A	G	2: 155,783,626 (GRCm39)	V442A	probably damaging	Het
H2-Q4	A	C	17: 35,601,834 (GRCm39)	D232A	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Htt	A	G	5: 35,048,785 (GRCm39)	I2423V	probably benign	Het
Itk	T	A	11: 46,258,723 (GRCm39)	I60F	probably damaging	Het
Izumo1	T	A	7: 45,272,295 (GRCm39)	C25*	probably null	Het
Lamc1	G	T	1: 153,116,241 (GRCm39)	P980H	probably damaging	Het
Ncor2	C	A	5: 125,163,954 (GRCm39)	R367L	unknown	Het
Pcdhb17	A	T	18: 37,619,059 (GRCm39)		probably null	Het
Rnf123	C	A	9: 107,944,594 (GRCm39)		probably null	Het
Sh3bgrl2	T	A	9: 83,459,543 (GRCm39)	F34I	probably damaging	Het
Sharpin	T	C	15: 76,232,424 (GRCm39)	E171G	probably damaging	Het
Slc22a30	A	T	19: 8,313,152 (GRCm39)	D544E	probably benign	Het
Slc36a1	T	C	11: 55,116,954 (GRCm39)	C328R	probably damaging	Het
Sntg2	T	C	12: 30,362,680 (GRCm39)		probably benign	Het
Sox13	A	G	1: 133,314,844 (GRCm39)	V272A	probably benign	Het
Sppl2b	T	G	10: 80,699,928 (GRCm39)	L37R	probably damaging	Het
Strip1	T	A	3: 107,528,761 (GRCm39)	S390C	probably damaging	Het
Stxbp5	T	A	10: 9,684,346 (GRCm39)		probably benign	Het
Supt16	T	C	14: 52,399,255 (GRCm39)	E1008G	possibly damaging	Het
Vmn1r174	C	A	7: 23,453,911 (GRCm39)	H192Q	possibly damaging	Het
Vsir	C	T	10: 60,200,063 (GRCm39)	Q154*	probably null	Het
Xrn2	A	T	2: 146,870,066 (GRCm39)	R252*	probably null	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
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
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

2013-04-17