Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02246:Krcc1'

286193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krcc1

Ensembl Gene

ENSMUSG00000053012

Gene Name

lysine-rich coiled-coil 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL02246

Quality Score

Status

Chromosome

Chromosomal Location

71248661-71262303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71261405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 146 (D146N)

Ref Sequence

ENSEMBL: ENSMUSP00000145416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080949] [ENSMUST00000114188] [ENSMUST00000168700] [ENSMUST00000204436] [ENSMUST00000205123]

AlphaFold

Q99JT5

Predicted Effect

probably benign
Transcript: ENSMUST00000080949
AA Change: D146N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079748
Gene: ENSMUSG00000053012
AA Change: D146N

Domain	Start	End	E-Value	Type
coiled coil region	209	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114188

SMART Domains

Protein: ENSMUSP00000109826
Gene: ENSMUSG00000055027

Domain	Start	End	E-Value	Type
Pfam:zf-MYND	18	56	5.4e-11	PFAM
SET	76	225	1.53e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168700
AA Change: D146N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130252
Gene: ENSMUSG00000053012
AA Change: D146N

Domain	Start	End	E-Value	Type
coiled coil region	209	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204436
AA Change: D146N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145416
Gene: ENSMUSG00000053012
AA Change: D146N

Domain	Start	End	E-Value	Type
coiled coil region	209	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205123

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	G	T	4: 123,754,655 (GRCm39)	D190Y	probably damaging	Het
Acat1	G	A	9: 53,496,166 (GRCm39)	L324F	probably benign	Het
Ago2	T	C	15: 72,980,267 (GRCm39)	H743R	probably damaging	Het
Ahnak	A	T	19: 8,985,632 (GRCm39)	L2305F	probably damaging	Het
Ankhd1	T	A	18: 36,789,779 (GRCm39)	H2438Q	probably damaging	Het
Atm	G	T	9: 53,438,485 (GRCm39)	Q162K	probably benign	Het
Bpifa6	A	T	2: 153,831,196 (GRCm39)	E254V	probably damaging	Het
Carns1	T	A	19: 4,216,431 (GRCm39)	N584Y	possibly damaging	Het
Cmklr1	T	C	5: 113,752,461 (GRCm39)	N180S	probably benign	Het
Col6a5	G	A	9: 105,788,306 (GRCm39)	R1565*	probably null	Het
Fbxo43	T	A	15: 36,162,842 (GRCm39)	I122L	probably benign	Het
Fibp	A	G	19: 5,513,264 (GRCm39)	Y193C	probably damaging	Het
Gm10923	A	G	15: 85,001,132 (GRCm39)		probably benign	Het
Il12rb2	A	G	6: 67,285,940 (GRCm39)		probably null	Het
Jakmip2	T	C	18: 43,700,223 (GRCm39)	E445G	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Map2k5	A	T	9: 63,284,411 (GRCm39)	D43E	probably benign	Het
Nup155	A	G	15: 8,172,486 (GRCm39)	K824R	probably benign	Het
Or2o1	T	C	11: 49,050,921 (GRCm39)	S27P	probably benign	Het
Or51g2	T	C	7: 102,622,951 (GRCm39)	T83A	possibly damaging	Het
Phkg1	G	A	5: 129,893,479 (GRCm39)	R324W	probably damaging	Het
Plcd1	G	A	9: 118,901,677 (GRCm39)	L616F	probably benign	Het
Rnf141	A	T	7: 110,424,494 (GRCm39)	S122T	probably benign	Het
Tap1	G	A	17: 34,412,963 (GRCm39)	V593M	probably benign	Het
Ticrr	T	C	7: 79,325,076 (GRCm39)	L534P	probably damaging	Het
Ubr4	G	T	4: 139,186,414 (GRCm39)	E640D	possibly damaging	Het
Vmn1r169	A	C	7: 23,276,661 (GRCm39)	I18L	probably benign	Het

Other mutations in Krcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01828:Krcc1	APN	6	71,261,351 (GRCm39)	missense	probably damaging	0.97
R1187:Krcc1	UTSW	6	71,261,612 (GRCm39)	nonsense	probably null
R4965:Krcc1	UTSW	6	71,261,621 (GRCm39)	missense	probably damaging	0.98
R6949:Krcc1	UTSW	6	71,261,135 (GRCm39)	missense	probably benign	0.06
R7107:Krcc1	UTSW	6	71,261,198 (GRCm39)	missense	probably benign	0.44
R9320:Krcc1	UTSW	6	71,261,457 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16