Mutagenetix > Incidental Mutation

Incidental Mutation 'R6554:Katnip'

521847

Institutional Source

Beutler Lab

Gene Symbol

Katnip

Ensembl Gene

ENSMUSG00000032743

Gene Name

katanin interacting protein

Synonyms

D430042O09Rik

MMRRC Submission

044679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6554 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125307060-125473965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125449914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 993 (R993C)

Ref Sequence

ENSEMBL: ENSMUSP00000118668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069660] [ENSMUST00000124223]

AlphaFold

Q8C753

Predicted Effect

probably damaging
Transcript: ENSMUST00000069660
AA Change: R1019C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: R1019C

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 damaging
Transcript: ENSMUST00000124223
AA Change: R993C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: R993C

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,618,246 (GRCm39)	R180C	probably damaging	Het
B3galt9	C	A	2: 34,729,276 (GRCm39)	S358R	probably benign	Het
Ces1b	C	A	8: 93,791,619 (GRCm39)	V327L	probably benign	Het
Cps1	C	T	1: 67,213,628 (GRCm39)	R787*	probably null	Het
Dmrt2	C	T	19: 25,655,312 (GRCm39)	P304S	probably damaging	Het
Dop1b	A	G	16: 93,557,346 (GRCm39)	D429G	probably benign	Het
Dync1h1	T	A	12: 110,616,282 (GRCm39)	M3111K	probably benign	Het
Dync2h1	A	G	9: 7,037,699 (GRCm39)	V3393A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam184a	T	C	10: 53,517,063 (GRCm39)	D1007G	possibly damaging	Het
Flt3	A	C	5: 147,312,545 (GRCm39)	L132W	probably damaging	Het
Gm14322	G	A	2: 177,410,220 (GRCm39)	S60N	possibly damaging	Het
Kcnj16	T	A	11: 110,916,131 (GRCm39)	Y264*	probably null	Het
Klkb1	T	A	8: 45,726,591 (GRCm39)	I471F	probably damaging	Het
Lrfn4	T	C	19: 4,663,914 (GRCm39)	T207A	probably damaging	Het
Mfsd4b5	T	A	10: 39,862,428 (GRCm39)	T32S	probably benign	Het
Mtbp	A	G	15: 55,430,645 (GRCm39)	D234G	probably damaging	Het
Nfix	T	C	8: 85,454,279 (GRCm39)	T218A	possibly damaging	Het
Nsd3	A	T	8: 26,152,891 (GRCm39)	E410D	probably damaging	Het
Or4g17	C	T	2: 111,209,504 (GRCm39)	S53F	possibly damaging	Het
Or5aq7	A	T	2: 86,937,970 (GRCm39)	S254T	probably benign	Het
Reln	T	C	5: 22,101,838 (GRCm39)	Y3364C	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpina1d	A	T	12: 103,731,062 (GRCm39)	H305Q	probably benign	Het
Skic8	A	T	9: 54,634,929 (GRCm39)	I88N	probably damaging	Het
Skint8	G	A	4: 111,784,413 (GRCm39)	C13Y	probably benign	Het
Smc4	G	A	3: 68,936,848 (GRCm39)	V863I	probably benign	Het
Spdl1	T	G	11: 34,713,397 (GRCm39)	N224T	possibly damaging	Het
Sprr1b	T	G	3: 92,344,420 (GRCm39)	Q152P	possibly damaging	Het
St6gal1	A	G	16: 23,140,405 (GRCm39)	N192S	probably benign	Het
Tbc1d8	T	C	1: 39,445,903 (GRCm39)	N96S	probably damaging	Het
Tbccd1	A	T	16: 22,640,874 (GRCm39)	I501K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,942,285 (GRCm39)	I293T	probably damaging	Het
Vmn2r61	A	G	7: 41,926,139 (GRCm39)	E548G	probably damaging	Het
Wdr97	A	G	15: 76,239,178 (GRCm39)	D85G	possibly damaging	Het
Zeb2	A	T	2: 44,887,524 (GRCm39)	V496E	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
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
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'- GACAGCGACTTTAAAATCCCAGTC -3'
(R):5'- ACAGCATCGTGATGTCCTTC -3'

Sequencing Primer
(F):5'- AGTCCTCCCTTATGGACAGCAC -3'
(R):5'- GATGTCCTTCACACCTCGGAAG -3'

Posted On

2018-06-06