Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00743:Kctd10'

11582

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kctd10

Ensembl Gene

ENSMUSG00000001098

Gene Name

potassium channel tetramerisation domain containing 10

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.566) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

114501633-114518566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114505410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 195 (R195C)

Ref Sequence

ENSEMBL: ENSMUSP00000099641 (fasta)

Gene Model

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

AlphaFold

Q922M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000001125
AA Change: R196C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001125
Gene: ENSMUSG00000001098
AA Change: R196C

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: R195C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098
AA Change: R195C

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: ENSMUST00000152694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135170

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: 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: 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: 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

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,461,606 (GRCm39)	E659G	probably benign	Het
Adgrg6	A	C	10: 14,411,703 (GRCm39)		probably benign	Het
Als2cl	A	G	9: 110,718,227 (GRCm39)	K323E	possibly damaging	Het
Atm	A	C	9: 53,424,416 (GRCm39)	S628R	probably benign	Het
Baz2a	T	C	10: 127,950,395 (GRCm39)	V443A	probably benign	Het
Bclaf3	T	A	X: 158,341,357 (GRCm39)	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196 (GRCm39)	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,278,501 (GRCm39)		probably benign	Het
Cdh20	A	G	1: 104,875,153 (GRCm39)	T312A	probably benign	Het
Chrnd	G	A	1: 87,120,649 (GRCm39)	W91*	probably null	Het
Cntln	T	C	4: 84,897,652 (GRCm39)	F413S	probably benign	Het
Ctsq	A	T	13: 61,183,998 (GRCm39)	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,501,736 (GRCm39)	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,039,979 (GRCm39)	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hps6	A	T	19: 45,992,099 (GRCm39)	D12V	probably damaging	Het
Hpse	T	C	5: 100,846,865 (GRCm39)	D188G	probably benign	Het
Id2	C	A	12: 25,145,355 (GRCm39)	E123*	probably null	Het
Ints10	C	T	8: 69,271,985 (GRCm39)	P562L	probably damaging	Het
Kel	A	C	6: 41,665,509 (GRCm39)	L537R	probably damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Lrrtm3	A	T	10: 63,924,988 (GRCm39)	S60T	probably damaging	Het
Myof	C	A	19: 37,949,382 (GRCm39)	R608L	probably benign	Het
Naa35	A	T	13: 59,778,485 (GRCm39)	I669F	probably benign	Het
Or8g2b	A	T	9: 39,751,002 (GRCm39)	I91F	probably benign	Het
Or8g53	A	G	9: 39,683,407 (GRCm39)	S230P	possibly damaging	Het
Pclo	G	T	5: 14,728,035 (GRCm39)		probably benign	Het
Pik3c3	C	T	18: 30,407,417 (GRCm39)	S55F	probably damaging	Het
Prdm6	T	G	18: 53,673,300 (GRCm39)	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,346,610 (GRCm39)	T63A	probably benign	Het
Samd4b	A	C	7: 28,101,302 (GRCm39)	I108S	probably damaging	Het
Slc9a7	T	C	X: 19,972,260 (GRCm39)	D708G	possibly damaging	Het
Stim2	A	G	5: 54,210,835 (GRCm39)	D90G	probably benign	Het
Tmem52b	A	G	6: 129,493,678 (GRCm39)	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,652,518 (GRCm39)	R98G	probably benign	Het
Uxs1	C	T	1: 43,796,173 (GRCm39)	V310I	probably benign	Het
Vcan	A	C	13: 89,873,425 (GRCm39)	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,546,504 (GRCm39)	F792S	probably damaging	Het
Zfp455	T	C	13: 67,355,962 (GRCm39)	I345T	probably benign	Het
Zfp938	A	T	10: 82,062,317 (GRCm39)	M101K	probably benign	Het
Zkscan2	A	G	7: 123,079,195 (GRCm39)	S921P	probably damaging	Het

Other mutations in Kctd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2137:Kctd10	UTSW	5	114,505,389 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-12-06