Mutagenetix > Incidental Mutation

Incidental Mutation 'R8204:Katnip'

635815

Institutional Source

Beutler Lab

Gene Symbol

Katnip

Ensembl Gene

ENSMUSG00000032743

Gene Name

katanin interacting protein

Synonyms

D430042O09Rik

MMRRC Submission

067627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8204 (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: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (51/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,057,606 (GRCm39)	R731H	probably benign	Het
Arpp21	T	A	9: 111,965,638 (GRCm39)	Y408F	noncoding transcript	Het
Atr	T	C	9: 95,817,566 (GRCm39)	S2086P		Het
BC034090	C	A	1: 155,117,488 (GRCm39)	G210V	probably damaging	Het
Cdk6	A	G	5: 3,394,461 (GRCm39)	D32G	probably damaging	Het
Cep126	C	T	9: 8,120,781 (GRCm39)	E81K	probably damaging	Het
Cep20	T	C	16: 14,118,070 (GRCm39)	D150G	probably benign	Het
Clec4d	T	A	6: 123,242,323 (GRCm39)	V25D	probably damaging	Het
Cox8a	A	G	19: 7,192,845 (GRCm39)	I40T	probably benign	Het
Dlg5	A	G	14: 24,210,320 (GRCm39)	L792P	probably damaging	Het
Egln3	T	C	12: 54,250,010 (GRCm39)	Y113C	probably benign	Het
Exoc6b	C	T	6: 84,832,504 (GRCm39)	V397M	probably damaging	Het
Fat2	A	T	11: 55,175,436 (GRCm39)	L1759Q	probably benign	Het
Flg2	T	A	3: 93,110,074 (GRCm39)	S701T	unknown	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Git1	G	A	11: 77,396,161 (GRCm39)	D551N	probably benign	Het
Gpr137	C	T	19: 6,917,746 (GRCm39)	A21T	probably benign	Het
Grk3	A	G	5: 113,105,225 (GRCm39)	F171L	probably benign	Het
Hk1	A	G	10: 62,132,523 (GRCm39)	F175S	probably damaging	Het
Hoxc13	A	G	15: 102,835,795 (GRCm39)	N308D	probably damaging	Het
Itga9	A	G	9: 118,700,989 (GRCm39)	N924S	probably damaging	Het
Klhl20	T	C	1: 160,934,414 (GRCm39)	M202V	probably benign	Het
Krtap19-9a	C	T	16: 88,720,996 (GRCm39)	G37D	noncoding transcript	Het
Lancl2	C	A	6: 57,714,701 (GRCm39)	P440Q	probably damaging	Het
Lrba	T	C	3: 86,222,710 (GRCm39)	I608T	possibly damaging	Het
Lrtm2	T	A	6: 119,294,369 (GRCm39)	E254V	probably benign	Het
Magi3	A	T	3: 103,958,502 (GRCm39)	C528S	probably benign	Het
Mast3	T	C	8: 71,240,925 (GRCm39)	D224G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myrip	G	A	9: 120,262,045 (GRCm39)		probably null	Het
Or4f54	A	G	2: 111,123,485 (GRCm39)	R291G	probably damaging	Het
Or5af2	A	C	11: 58,707,885 (GRCm39)	D17A	probably benign	Het
Plekhg6	C	T	6: 125,340,461 (GRCm39)	R633H	probably damaging	Het
Ppp1r7	T	C	1: 93,292,733 (GRCm39)	V344A	possibly damaging	Het
Ppp2r1a	A	G	17: 21,177,035 (GRCm39)	E191G	probably benign	Het
Prkag2	T	C	5: 25,074,125 (GRCm39)		probably null	Het
Pyroxd2	A	T	19: 42,737,827 (GRCm39)	V48E	probably benign	Het
Sacs	T	C	14: 61,450,397 (GRCm39)	S4148P	probably damaging	Het
Sh3tc2	T	C	18: 62,086,200 (GRCm39)	F5S	probably damaging	Het
Skint8	T	C	4: 111,796,090 (GRCm39)	S255P	probably benign	Het
Tacc2	A	T	7: 130,226,159 (GRCm39)	Q948L	probably damaging	Het
Tcerg1	T	A	18: 42,707,618 (GRCm39)	L1046Q	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfcp2	G	T	15: 100,420,329 (GRCm39)	Q169K	possibly damaging	Het
Tpp1	A	T	7: 105,399,522 (GRCm39)	L82Q	probably damaging	Het
Trpc7	A	G	13: 56,931,609 (GRCm39)	S697P	probably benign	Het
Vmn1r55	A	T	7: 5,150,285 (GRCm39)	I46N	possibly damaging	Het
Wdfy3	A	G	5: 102,000,451 (GRCm39)	V2973A	probably benign	Het
Xrcc1	T	C	7: 24,271,709 (GRCm39)	V564A	possibly 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
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
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'- GGTGACAGCGACTTTAAAATCCC -3'
(R):5'- GCATCGTGATGTCCTTCACACC -3'

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

Posted On

2020-07-13