Mutagenetix > Incidental Mutations

Incidental Mutation 'R3723:Kctd16'

270649

Institutional Source

Beutler Lab

Gene Symbol

Kctd16

Ensembl Gene

ENSMUSG00000051401

Gene Name

potassium channel tetramerisation domain containing 16

Synonyms

4930434H12Rik, LOC383347

MMRRC Submission

040714-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40258361-40531168 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40258859 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 167 (T167A)

Ref Sequence

ENSEMBL: ENSMUSP00000089547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091927] [ENSMUST00000096572]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091927
AA Change: T167A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089547
Gene: ENSMUSG00000051401
AA Change: T167A

Domain	Start	End	E-Value	Type
BTB	25	130	8.7e-7	SMART
low complexity region	288	300	N/A	INTRINSIC
low complexity region	374	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096572

SMART Domains

Protein: ENSMUSP00000094323
Gene: ENSMUSG00000071860

Domain	Start	End	E-Value	Type
transmembrane domain	99	121	N/A	INTRINSIC

Meta Mutation Damage Score

0.2196

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

MGI Phenotype

PHENOTYPE: Homozygous knockout leads to reduced extinction or increase of fear memory in cued or contextual conditioning behavior tests, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 9,016,853	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,576,528	Y510C	probably damaging	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Apob	A	T	12: 8,006,327	Q1570L	probably damaging	Het
Apob	A	G	12: 8,011,763	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,066,653	I361F	probably damaging	Het
C9	G	A	15: 6,483,080	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,397,415		probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ckap4	A	G	10: 84,528,392	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,447,346	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,220,375		probably benign	Het
Glis3	A	T	19: 28,262,591	C97*	probably null	Het
Gm13101	T	C	4: 143,966,681	T76A	probably benign	Het
Gm14221	C	G	2: 160,568,427		noncoding transcript	Het
Gm8603	A	C	17: 13,516,813		probably null	Het
Gm9767	G	T	10: 26,078,571		probably benign	Het
Kif18b	A	G	11: 102,916,276	F78L	probably damaging	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mipol1	C	A	12: 57,457,092	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,288	V1527A	probably damaging	Het
Naip5	G	T	13: 100,223,014	Y571*	probably null	Het
Npl	A	G	1: 153,515,464	F182L	probably benign	Het
Pan3	T	A	5: 147,503,208		probably benign	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,662,992	T350A	possibly damaging	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Rere	A	G	4: 150,468,795	E148G	probably damaging	Het
Scube2	T	C	7: 109,808,406		probably benign	Het
Sptbn1	A	G	11: 30,137,335	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Supt3	A	G	17: 44,994,387	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,031,545	I236V	possibly damaging	Het
Tns1	T	C	1: 73,924,940	S1511G	probably damaging	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,883,455	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,085,278		probably null	Het
Zfp30	A	G	7: 29,793,353	E344G	probably damaging	Het

Other mutations in Kctd16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Kctd16	APN	18	40258800	missense	probably benign	0.01
IGL02001:Kctd16	APN	18	40258680	missense	possibly damaging	0.48
IGL02173:Kctd16	APN	18	40530853	missense	probably benign	0.01
IGL03112:Kctd16	APN	18	40258800	missense	probably benign	0.08
R0109:Kctd16	UTSW	18	40259151	missense	probably benign	0.06
R0109:Kctd16	UTSW	18	40259151	missense	probably benign	0.06
R0267:Kctd16	UTSW	18	40530877	missense	probably benign	0.02
R0554:Kctd16	UTSW	18	40258439	missense	probably benign
R0732:Kctd16	UTSW	18	40258563	missense	probably damaging	1.00
R0883:Kctd16	UTSW	18	40530775	missense	probably damaging	0.98
R2140:Kctd16	UTSW	18	40259178	missense	possibly damaging	0.89
R2141:Kctd16	UTSW	18	40259178	missense	possibly damaging	0.89
R2142:Kctd16	UTSW	18	40259178	missense	possibly damaging	0.89
R2160:Kctd16	UTSW	18	40259085	missense	probably damaging	1.00
R3724:Kctd16	UTSW	18	40258859	missense	possibly damaging	0.79
R5483:Kctd16	UTSW	18	40530876	missense	probably benign
R5589:Kctd16	UTSW	18	40259008	missense	probably damaging	1.00
R5767:Kctd16	UTSW	18	40258869	missense	probably benign	0.13
R5811:Kctd16	UTSW	18	40258452	missense	probably damaging	1.00
R5911:Kctd16	UTSW	18	40530852	missense	probably benign	0.11
R5930:Kctd16	UTSW	18	40530829	missense	probably benign	0.10
R6017:Kctd16	UTSW	18	40258943	missense	probably damaging	1.00
R6603:Kctd16	UTSW	18	40258491	missense	probably benign
R7404:Kctd16	UTSW	18	40258773	missense	probably damaging	1.00
R7597:Kctd16	UTSW	18	40530795	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- AAGCTGAGTACTTCCAGCTCCC -3'
(R):5'- GAGTTACAGGCCACCATGTG -3'

Sequencing Primer
(F):5'- CTGACCTCGTCAAACTCCTGG -3'
(R):5'- GCTCTTTCCAGATGTTTAAACTTGAG -3'

Posted On

2015-03-18