Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01374:Krt28'

78650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt28

Ensembl Gene

ENSMUSG00000055937

Gene Name

keratin 28

Synonyms

4733401L19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01374

Quality Score

Status

Chromosome

Chromosomal Location

99255698-99265729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99262294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006963]

AlphaFold

A6BLY7

Predicted Effect

probably benign
Transcript: ENSMUST00000006963
AA Change: V232A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: V232A

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
Filament	83	398	4.6e-144	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,747,830 (GRCm39)	H54R	probably benign	Het
Acsl6	T	C	11: 54,229,245 (GRCm39)	V359A	probably damaging	Het
Aldh3a2	C	T	11: 61,139,828 (GRCm39)	V435I	probably benign	Het
Atm	A	T	9: 53,443,024 (GRCm39)	S80T	possibly damaging	Het
Atp8b4	A	T	2: 126,225,577 (GRCm39)		probably benign	Het
Atxn1	T	C	13: 45,721,903 (GRCm39)		probably benign	Het
Chd3	T	C	11: 69,250,806 (GRCm39)	E641G	probably damaging	Het
Clpb	T	C	7: 101,422,335 (GRCm39)	V346A	probably damaging	Het
Ctnnbl1	T	A	2: 157,678,613 (GRCm39)		probably null	Het
Cyp2b19	C	T	7: 26,458,504 (GRCm39)	P73L	probably benign	Het
Dcc	T	C	18: 71,507,624 (GRCm39)	Y916C	probably damaging	Het
Fat4	A	G	3: 38,941,647 (GRCm39)	N180S	probably damaging	Het
Foxi1	A	C	11: 34,157,984 (GRCm39)	C14G	probably damaging	Het
Fut4	G	T	9: 14,662,786 (GRCm39)	F169L	probably benign	Het
Grip1	T	C	10: 119,885,273 (GRCm39)	S748P	probably benign	Het
Hnrnpr	T	C	4: 136,054,729 (GRCm39)		probably benign	Het
Ifnz	G	A	4: 88,701,578 (GRCm39)		probably benign	Het
Lyar	C	A	5: 38,385,391 (GRCm39)		probably null	Het
Manba	G	A	3: 135,260,541 (GRCm39)	W575*	probably null	Het
Morc3	T	A	16: 93,641,101 (GRCm39)	D44E	probably damaging	Het
Mrc2	T	A	11: 105,238,469 (GRCm39)	Y1205*	probably null	Het
Myh2	A	T	11: 67,068,250 (GRCm39)	T293S	probably benign	Het
Nlrp10	T	A	7: 108,523,788 (GRCm39)	K564I	possibly damaging	Het
Nuak1	A	G	10: 84,210,532 (GRCm39)	S519P	probably damaging	Het
Or12k5	T	C	2: 36,894,942 (GRCm39)	H228R	probably benign	Het
Or9m2	T	C	2: 87,820,892 (GRCm39)	F146L	probably benign	Het
Padi2	T	A	4: 140,660,496 (GRCm39)	N325K	probably damaging	Het
Pcdhb19	A	T	18: 37,631,042 (GRCm39)	Y279F	probably damaging	Het
Phldb1	A	G	9: 44,607,464 (GRCm39)	L1247P	probably damaging	Het
Rmdn3	A	G	2: 118,984,428 (GRCm39)	V108A	probably damaging	Het
Slc22a5	A	G	11: 53,758,490 (GRCm39)	F437L	probably benign	Het
Slc3a2	C	T	19: 8,690,701 (GRCm39)		probably null	Het
Slc5a3	T	A	16: 91,874,006 (GRCm39)	M21K	probably benign	Het
Spink5	T	A	18: 44,122,471 (GRCm39)	F312Y	possibly damaging	Het
Stab1	T	C	14: 30,869,032 (GRCm39)	Y1531C	probably damaging	Het
Tln2	C	A	9: 67,169,205 (GRCm39)	A433S	probably damaging	Het
Usp24	C	T	4: 106,237,296 (GRCm39)	L1076F	possibly damaging	Het
Vmn2r117	T	C	17: 23,697,356 (GRCm39)	Y112C	possibly damaging	Het
Vmn2r16	C	T	5: 109,478,283 (GRCm39)	L13F	probably benign	Het
Vmn2r76	T	C	7: 85,874,857 (GRCm39)	M707V	probably benign	Het
Zmym4	A	T	4: 126,762,750 (GRCm39)	F1358I	probably damaging	Het

Other mutations in Krt28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Krt28	APN	11	99,262,243 (GRCm39)	missense	probably damaging	1.00
IGL01590:Krt28	APN	11	99,265,220 (GRCm39)	critical splice donor site	probably null
R1250:Krt28	UTSW	11	99,257,648 (GRCm39)	critical splice donor site	probably null
R1488:Krt28	UTSW	11	99,255,997 (GRCm39)	missense	probably benign	0.01
R2116:Krt28	UTSW	11	99,255,943 (GRCm39)	missense	probably benign	0.27
R4244:Krt28	UTSW	11	99,265,376 (GRCm39)	missense	probably damaging	1.00
R4862:Krt28	UTSW	11	99,255,936 (GRCm39)	missense	possibly damaging	0.92
R4928:Krt28	UTSW	11	99,265,458 (GRCm39)	missense	probably benign	0.00
R5035:Krt28	UTSW	11	99,257,650 (GRCm39)	missense	probably benign	0.00
R5568:Krt28	UTSW	11	99,262,210 (GRCm39)	missense	probably damaging	1.00
R5642:Krt28	UTSW	11	99,265,320 (GRCm39)	missense	probably damaging	1.00
R5873:Krt28	UTSW	11	99,257,716 (GRCm39)	missense	probably damaging	1.00
R6053:Krt28	UTSW	11	99,262,027 (GRCm39)	missense	probably benign	0.05
R6548:Krt28	UTSW	11	99,257,839 (GRCm39)	missense	probably damaging	1.00
R7194:Krt28	UTSW	11	99,265,230 (GRCm39)	nonsense	probably null
R7863:Krt28	UTSW	11	99,255,999 (GRCm39)	missense	possibly damaging	0.65
R7986:Krt28	UTSW	11	99,257,651 (GRCm39)	missense	probably benign	0.00
R8415:Krt28	UTSW	11	99,265,626 (GRCm39)	missense	probably benign
R9710:Krt28	UTSW	11	99,255,921 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05