Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03331:Krt20'

416885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt20

Ensembl Gene

ENSMUSG00000035775

Gene Name

keratin 20

Synonyms

CK20, 9030623C06Rik, cytokeratin 20

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL03331

Quality Score

Status

Chromosome

Chromosomal Location

99319229-99328976 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 99326256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017743] [ENSMUST00000017743]

AlphaFold

Q9D312

Predicted Effect

probably null
Transcript: ENSMUST00000017743

SMART Domains

Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Filament	76	387	7.19e-146	SMART
low complexity region	410	431	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000017743

SMART Domains

Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Filament	76	387	7.19e-146	SMART
low complexity region	410	431	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the keratin protein family and is found within a cluster of cytokeratin genes on chromosome 11. Keratins are cytoskeletal proteins that are preferentially expressed in epithelial cells. The encoded protein may help maintain intermediate filament organization in intestinal epithelium. Phosphorylation of this protein may also influence mucin secretion in the small intestine. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	C	A	14: 78,751,305 (GRCm39)	D361Y	probably damaging	Het
Arhgap10	T	C	8: 78,146,711 (GRCm39)	N231S	probably damaging	Het
Asb15	A	T	6: 24,556,523 (GRCm39)	D6V	possibly damaging	Het
C1qb	G	A	4: 136,607,604 (GRCm39)	A253V	probably damaging	Het
Ccdc178	G	T	18: 21,944,640 (GRCm39)		probably null	Het
Chst15	A	G	7: 131,864,442 (GRCm39)	L387P	probably damaging	Het
Clca3b	T	A	3: 144,533,724 (GRCm39)	E550D	probably benign	Het
Dnah5	A	G	15: 28,420,086 (GRCm39)	K3795E	probably damaging	Het
Dppa2	T	C	16: 48,134,242 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,545,149 (GRCm39)	Y220C	probably damaging	Het
Fkbpl	C	T	17: 34,864,661 (GRCm39)	T143I	probably damaging	Het
Gbe1	T	G	16: 70,230,466 (GRCm39)	Y155D	probably damaging	Het
Gm1979	T	C	5: 26,207,008 (GRCm39)	K69R	probably damaging	Het
Gna14	G	A	19: 16,586,832 (GRCm39)	V336M	probably damaging	Het
Gpr37	A	G	6: 25,669,728 (GRCm39)	V372A	probably benign	Het
H2bc12	T	C	13: 22,220,443 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,785,015 (GRCm39)		probably benign	Het
Lman1	T	C	18: 66,126,275 (GRCm39)	T284A	probably benign	Het
Matn2	A	T	15: 34,345,503 (GRCm39)	D170V	probably damaging	Het
Morc1	C	A	16: 48,432,731 (GRCm39)		probably benign	Het
Necap1	T	A	6: 122,857,376 (GRCm39)	S34T	probably benign	Het
Nt5c3b	T	C	11: 100,327,041 (GRCm39)	Y85C	probably damaging	Het
Or2t6	C	A	14: 14,176,017 (GRCm38)	A22S	probably benign	Het
Or5b102	T	A	19: 13,041,231 (GRCm39)	L152H	probably damaging	Het
Papln	A	G	12: 83,830,435 (GRCm39)	M1016V	probably benign	Het
Pld1	T	C	3: 28,139,994 (GRCm39)	F605L	probably damaging	Het
Rbms2	T	A	10: 127,969,504 (GRCm39)		probably benign	Het
Rps6kb1	A	T	11: 86,423,656 (GRCm39)	V108E	probably damaging	Het
Scap	T	C	9: 110,209,304 (GRCm39)		probably null	Het
Serpina1f	T	C	12: 103,657,150 (GRCm39)	I307M	probably benign	Het
Tchh	A	G	3: 93,350,725 (GRCm39)	D55G	probably damaging	Het
Tnfaip3	G	T	10: 18,887,349 (GRCm39)	Q59K	possibly damaging	Het
Vcan	A	G	13: 89,810,051 (GRCm39)	C2287R	probably damaging	Het
Vmn2r6	T	C	3: 64,445,428 (GRCm39)	N766D	probably damaging	Het

Other mutations in Krt20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Krt20	APN	11	99,322,769 (GRCm39)	missense	probably benign	0.01
IGL01926:Krt20	APN	11	99,328,652 (GRCm39)	missense	probably damaging	1.00
IGL02105:Krt20	APN	11	99,328,827 (GRCm39)	missense	probably benign	0.01
IGL03225:Krt20	APN	11	99,322,756 (GRCm39)	missense	probably damaging	0.97
IGL03274:Krt20	APN	11	99,320,855 (GRCm39)	splice site	probably benign
R0091:Krt20	UTSW	11	99,328,640 (GRCm39)	missense	probably damaging	1.00
R0446:Krt20	UTSW	11	99,328,602 (GRCm39)	nonsense	probably null
R3955:Krt20	UTSW	11	99,323,037 (GRCm39)	nonsense	probably null
R4805:Krt20	UTSW	11	99,319,811 (GRCm39)	missense	unknown
R5156:Krt20	UTSW	11	99,320,879 (GRCm39)	missense	possibly damaging	0.92
R5620:Krt20	UTSW	11	99,326,283 (GRCm39)	missense	probably damaging	1.00
R6716:Krt20	UTSW	11	99,322,754 (GRCm39)	missense	possibly damaging	0.77
R7006:Krt20	UTSW	11	99,328,587 (GRCm39)	missense	probably benign	0.34
R8041:Krt20	UTSW	11	99,328,663 (GRCm39)	missense	probably damaging	1.00
R8296:Krt20	UTSW	11	99,323,063 (GRCm39)	missense	probably damaging	1.00
R9189:Krt20	UTSW	11	99,323,087 (GRCm39)	missense	possibly damaging	0.78

Posted On

2016-08-02