Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01828:Krcc1'

154703

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 #

IGL01828

Quality Score

Status

Chromosome

Chromosomal Location

71248661-71262303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71261351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 128 (Y128N)

Ref Sequence

ENSEMBL: ENSMUSP00000145416 (fasta)

Gene Model

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

AlphaFold

Q99JT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000080949
AA Change: Y128N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079748
Gene: ENSMUSG00000053012
AA Change: Y128N

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 damaging
Transcript: ENSMUST00000168700
AA Change: Y128N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130252
Gene: ENSMUSG00000053012
AA Change: Y128N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204436
AA Change: Y128N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145416
Gene: ENSMUSG00000053012
AA Change: Y128N

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,521 (GRCm39)	I1151V	probably benign	Het
Abcc4	C	T	14: 118,790,691 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,658,615 (GRCm39)		probably benign	Het
Car4	C	A	11: 84,855,571 (GRCm39)	Q198K	probably benign	Het
Ces1a	T	C	8: 93,751,829 (GRCm39)	H435R	probably damaging	Het
Chdh	T	A	14: 29,758,565 (GRCm39)	F503L	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dse	T	A	10: 34,028,772 (GRCm39)	T773S	probably damaging	Het
Fbxw11	T	A	11: 32,670,505 (GRCm39)	L123H	probably damaging	Het
Gigyf2	A	G	1: 87,346,820 (GRCm39)	D550G	probably damaging	Het
Gm45844	T	C	7: 7,234,322 (GRCm39)		probably null	Het
Myh8	T	C	11: 67,194,652 (GRCm39)	M1621T	possibly damaging	Het
Notch2	T	A	3: 97,979,929 (GRCm39)	C148S	probably damaging	Het
Plcg2	C	A	8: 118,316,972 (GRCm39)	H616Q	probably damaging	Het
Plec	T	C	15: 76,067,955 (GRCm39)	E1218G	probably damaging	Het
Plekhm2	T	C	4: 141,356,896 (GRCm39)	E749G	probably benign	Het
Slco1a6	C	T	6: 142,042,137 (GRCm39)	V480M	probably damaging	Het
Vmn1r88	C	T	7: 12,911,662 (GRCm39)	T6I	probably damaging	Het
Vmn2r14	A	G	5: 109,372,443 (GRCm39)	F16L	possibly damaging	Het
Ywhab	G	A	2: 163,853,694 (GRCm39)	R57H	possibly damaging	Het

Other mutations in Krcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02246:Krcc1	APN	6	71,261,405 (GRCm39)	missense	probably benign	0.31
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

2014-02-04