Mutagenetix > Incidental Mutation

Incidental Mutation 'R2137:Kctd10'

235876

Institutional Source

Beutler Lab

Gene Symbol

Kctd10

Ensembl Gene

ENSMUSG00000001098

Gene Name

potassium channel tetramerisation domain containing 10

Synonyms

MMRRC Submission

040140-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R2137 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114501633-114518566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114505389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 202 (F202L)

Ref Sequence

ENSEMBL: ENSMUSP00000099641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001125] [ENSMUST00000102581] [ENSMUST00000124316] [ENSMUST00000134532] [ENSMUST00000169347] [ENSMUST00000202006] [ENSMUST00000196676] [ENSMUST00000199567] [ENSMUST00000196467]

AlphaFold

Q922M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000001125
AA Change: F203L

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

SMART Domains

Protein: ENSMUSP00000001125
Gene: ENSMUSG00000001098
AA Change: F203L

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
BTB	32	132	3.21e-19	SMART
low complexity region	287	303	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102581
AA Change: F202L

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

SMART Domains

Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098
AA Change: F202L

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
BTB	32	132	6.89e-19	SMART
low complexity region	286	302	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123538

Predicted Effect

probably benign
Transcript: ENSMUST00000124316

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	833	1015	5.8e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197773

Predicted Effect

probably benign
Transcript: ENSMUST00000134532

SMART Domains

Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
Pfam:BTB_2	34	89	2.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169347

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	834	1013	2.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202006

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	834	1013	2.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196676

SMART Domains

Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
Pfam:Myosin_TH1	25	204	7.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199567

SMART Domains

Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
Pfam:Myosin_TH1	25	213	4.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196467

SMART Domains

Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
Blast:MYSc	1	52	7e-10	BLAST
Pfam:Myosin_TH1	70	181	1.5e-12	PFAM

Meta Mutation Damage Score

0.9461

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E10.5 and E11.5, abnormal vasculature, absent vitelline circulation, enlarged pericardium, thin myocardium and defective heart valve defect formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	C	T	10: 81,482,143 (GRCm39)	T88I	probably damaging	Het
Atm	A	T	9: 53,364,675 (GRCm39)	V49D	probably damaging	Het
Bub1b	G	T	2: 118,467,199 (GRCm39)	E841*	probably null	Het
Cdh20	A	T	1: 110,027,836 (GRCm39)	N527I	probably damaging	Het
Cdh22	G	A	2: 164,958,314 (GRCm39)		probably benign	Het
Cog1	T	C	11: 113,550,127 (GRCm39)	L262P	probably damaging	Het
Col22a1	T	C	15: 71,878,797 (GRCm39)	H120R	possibly damaging	Het
Col4a2	T	C	8: 11,483,749 (GRCm39)	S890P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Evpl	T	C	11: 116,112,665 (GRCm39)	E1675G	probably damaging	Het
Faiml	G	A	9: 99,114,545 (GRCm39)	P115S	probably benign	Het
Fgg	A	T	3: 82,915,745 (GRCm39)	D62V	possibly damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Galntl6	C	T	8: 58,988,939 (GRCm39)		probably null	Het
Glyr1	T	C	16: 4,836,346 (GRCm39)	Y501C	probably benign	Het
Gm9847	G	T	12: 14,545,082 (GRCm39)		noncoding transcript	Het
Gria4	T	G	9: 4,427,026 (GRCm39)		probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Il6st	C	A	13: 112,639,392 (GRCm39)	H606N	possibly damaging	Het
Itprid1	A	G	6: 55,866,174 (GRCm39)	Q189R	probably damaging	Het
Kif17	T	A	4: 137,989,978 (GRCm39)	D55E	probably damaging	Het
Klf1	C	T	8: 85,629,775 (GRCm39)	A200V	possibly damaging	Het
Klhl32	A	T	4: 24,629,275 (GRCm39)	Y497*	probably null	Het
Kng2	G	T	16: 22,816,076 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,577,611 (GRCm39)	V245A	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mss51	T	C	14: 20,537,591 (GRCm39)	I47V	probably benign	Het
Myoz2	G	A	3: 122,827,861 (GRCm39)	T19M	probably benign	Het
Nampt	T	A	12: 32,880,309 (GRCm39)	N67K	probably benign	Het
Ncor2	A	T	5: 125,107,776 (GRCm39)	I1607K	probably damaging	Het
Nudt4	T	C	10: 95,399,600 (GRCm39)	Q7R	probably damaging	Het
Or5b119	A	G	19: 13,457,173 (GRCm39)	Y130H	probably damaging	Het
Or5b121	T	A	19: 13,507,802 (GRCm39)	I255N	probably damaging	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Pgm2	A	T	5: 64,273,709 (GRCm39)	M565L	probably benign	Het
Phactr1	T	G	13: 43,288,651 (GRCm39)	F639V	possibly damaging	Het
Plod3	C	A	5: 137,017,571 (GRCm39)	R165S	probably damaging	Het
Polr2b	T	A	5: 77,468,193 (GRCm39)	N164K	probably benign	Het
Rcbtb2	G	A	14: 73,399,491 (GRCm39)	G52S	probably damaging	Het
Rfc1	A	G	5: 65,468,382 (GRCm39)		probably null	Het
Rheb	A	G	5: 25,012,601 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Ripor2	G	A	13: 24,905,817 (GRCm39)		probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scg3	A	T	9: 75,584,092 (GRCm39)	D136E	probably damaging	Het
Slc10a4	C	T	5: 73,164,923 (GRCm39)	L172F	probably damaging	Het
Slc35c2	A	G	2: 165,123,299 (GRCm39)	Y113H	probably damaging	Het
Slc47a1	T	A	11: 61,235,318 (GRCm39)	D505V	probably benign	Het
Snap29	C	A	16: 17,246,113 (GRCm39)	D244E	possibly damaging	Het
Taar1	T	C	10: 23,797,168 (GRCm39)	F289L	probably benign	Het
Thbs2	T	A	17: 14,893,568 (GRCm39)	N871Y	probably damaging	Het
Tmem108	T	A	9: 103,377,162 (GRCm39)	T96S	possibly damaging	Het
Tnk2	G	T	16: 32,489,620 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,302,028 (GRCm39)	M928K	possibly damaging	Het
Tuba3b	A	G	6: 145,564,559 (GRCm39)	I110V	probably benign	Het
Tyk2	A	G	9: 21,022,281 (GRCm39)		probably benign	Het
Ugt1a9	T	A	1: 87,998,759 (GRCm39)	C70S	probably benign	Het
Vmn2r10	A	T	5: 109,151,410 (GRCm39)	I68K	possibly damaging	Het
Wfs1	T	C	5: 37,124,845 (GRCm39)	E682G	probably damaging	Het
Zfp213	T	C	17: 23,778,481 (GRCm39)		probably null	Het
Zfp809	T	C	9: 22,146,434 (GRCm39)	V41A	probably benign	Het
Zfp831	A	G	2: 174,547,539 (GRCm39)	K1574R	possibly damaging	Het

Other mutations in Kctd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Kctd10	APN	5	114,505,410 (GRCm39)	missense	probably damaging	1.00
IGL00832:Kctd10	APN	5	114,506,997 (GRCm39)	splice site	probably null
R1666:Kctd10	UTSW	5	114,507,051 (GRCm39)	missense	probably benign	0.01
R2223:Kctd10	UTSW	5	114,505,410 (GRCm39)	missense	probably benign	0.26
R3037:Kctd10	UTSW	5	114,513,061 (GRCm39)	missense	probably damaging	1.00
R3522:Kctd10	UTSW	5	114,512,984 (GRCm39)	missense	probably damaging	1.00
R5390:Kctd10	UTSW	5	114,503,764 (GRCm39)	missense	possibly damaging	0.56
R5794:Kctd10	UTSW	5	114,505,398 (GRCm39)	missense	probably damaging	1.00
R5903:Kctd10	UTSW	5	114,518,523 (GRCm39)	unclassified	probably benign
R6938:Kctd10	UTSW	5	114,508,191 (GRCm39)	nonsense	probably null
R8119:Kctd10	UTSW	5	114,505,316 (GRCm39)	missense	probably damaging	0.98
R8862:Kctd10	UTSW	5	114,503,921 (GRCm39)	missense	probably damaging	0.98
R9096:Kctd10	UTSW	5	114,508,232 (GRCm39)	missense	probably damaging	1.00
Z1189:Kctd10	UTSW	5	114,505,458 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGAATCCGGCCAGATTG -3'
(R):5'- CTCAGGGGCTCACTTTCAGTAG -3'

Sequencing Primer
(F):5'- GTAGGAAGTGCCCCCATTTC -3'
(R):5'- GGGCTCACTTTCAGTAGAGATAG -3'

Posted On

2014-10-01