Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Katnip'

444134

Institutional Source

Beutler Lab

Gene Symbol

Katnip

Ensembl Gene

ENSMUSG00000032743

Gene Name

katanin interacting protein

Synonyms

D430042O09Rik

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125307060-125473965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125441875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 595 (R595G)

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: R621G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000065744
Gene: ENSMUSG00000032743
AA Change: R621G

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: R595G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118668
Gene: ENSMUSG00000032743
AA Change: R595G

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,855 (GRCm39)	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,294,023 (GRCm39)	N131K	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,061 (GRCm39)		probably benign	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Serpine3	T	G	14: 62,908,291 (GRCm39)	S106R	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Ubr7	T	C	12: 102,734,526 (GRCm39)	S267P	probably benign	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	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
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'- TTGACACATCAGTCTGGTGAC -3'
(R):5'- TCCTGTAACTTGGACAAACTGTTC -3'

Sequencing Primer
(F):5'- GACACATCAGTCTGGTGACATATG -3'
(R):5'- TCTTCAGGCCAGATGTAGAATTCACC -3'

Posted On

2016-11-09