Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Krt28'

455329

Institutional Source

Beutler Lab

Gene Symbol

Krt28

Ensembl Gene

ENSMUSG00000055937

Gene Name

keratin 28

Synonyms

4733401L19Rik

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99255698-99265729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99257716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 375 (L375R)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

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

AlphaFold

A6BLY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000006963
AA Change: L375R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: L375R

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167 (GRCm39)		probably null	Het
4930505A04Rik	T	A	11: 30,376,220 (GRCm39)	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,223,975 (GRCm39)		probably benign	Het
Abcc4	G	T	14: 118,763,702 (GRCm39)	D1044E	probably benign	Het
Adgre4	A	G	17: 56,159,282 (GRCm39)	T656A	probably benign	Het
Ankk1	T	C	9: 49,327,196 (GRCm39)	N661S	probably benign	Het
Asah2	A	G	19: 31,981,082 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,649,142 (GRCm39)	D377G	probably benign	Het
C3ar1	A	G	6: 122,827,381 (GRCm39)	S279P	probably benign	Het
C7	A	G	15: 5,034,717 (GRCm39)	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,442,891 (GRCm39)	A48S	probably benign	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Casc3	A	G	11: 98,712,270 (GRCm39)	Y103C	unknown	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Col14a1	A	G	15: 55,309,182 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,962,512 (GRCm39)	S110P	probably benign	Het
Cpt1b	T	C	15: 89,304,931 (GRCm39)	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cyp2b23	C	T	7: 26,374,431 (GRCm39)	R271H	probably benign	Het
Dnah17	T	C	11: 117,947,723 (GRCm39)	I3039V	probably benign	Het
Dnpep	T	C	1: 75,291,787 (GRCm39)	D242G	probably damaging	Het
Dock10	T	A	1: 80,551,855 (GRCm39)	N660I	probably damaging	Het
Esco2	T	C	14: 66,061,640 (GRCm39)	D471G	probably benign	Het
Evpl	A	T	11: 116,125,258 (GRCm39)	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,389,850 (GRCm39)	I142F	probably damaging	Het
Fry	C	A	5: 150,302,350 (GRCm39)	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,801,472 (GRCm39)	F92I	probably benign	Het
Galm	A	G	17: 80,445,532 (GRCm39)	E94G	probably benign	Het
Gfy	T	G	7: 44,827,004 (GRCm39)	H364P	probably damaging	Het
Helz2	A	G	2: 180,875,821 (GRCm39)	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,598,527 (GRCm39)	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 62,855,170 (GRCm39)		probably null	Het
Igkv4-90	T	A	6: 68,784,453 (GRCm39)	N21I	probably benign	Het
Kpna1	A	G	16: 35,834,598 (GRCm39)		probably benign	Het
Lrrn1	T	C	6: 107,545,936 (GRCm39)	V578A	probably damaging	Het
Lta4h	T	C	10: 93,305,052 (GRCm39)		probably null	Het
Matk	T	A	10: 81,095,963 (GRCm39)	V166E	probably benign	Het
Muc4	C	A	16: 32,570,113 (GRCm39)	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,755,890 (GRCm39)	T220S	possibly damaging	Het
Nrp1	T	C	8: 129,194,858 (GRCm39)	V438A	probably damaging	Het
Or2y6	A	T	11: 52,104,180 (GRCm39)	L212Q	probably damaging	Het
Or6p1	T	A	1: 174,258,348 (GRCm39)	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,785,110 (GRCm39)	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,016,388 (GRCm39)	D911V	probably damaging	Het
Pkd1	A	G	17: 24,788,804 (GRCm39)	Q854R	probably benign	Het
Ppl	A	G	16: 4,923,913 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,617 (GRCm39)	T416A	probably benign	Het
Prdm15	T	C	16: 97,609,889 (GRCm39)	D585G	probably damaging	Het
Rbak	A	G	5: 143,159,466 (GRCm39)	V529A	probably benign	Het
Rc3h1	C	T	1: 160,787,071 (GRCm39)	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,763,242 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,901,818 (GRCm39)	N792S	probably benign	Het
Tat	T	C	8: 110,718,581 (GRCm39)		probably null	Het
Tbx21	A	T	11: 97,005,474 (GRCm39)		probably null	Het
Txndc11	A	G	16: 10,893,069 (GRCm39)	L887P	probably damaging	Het
Usp10	A	G	8: 120,673,831 (GRCm39)	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,038,633 (GRCm39)	H736L	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,157,204 (GRCm39)	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,242,020 (GRCm39)	R36*	probably null	Het

Other mutations in Krt28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Krt28	APN	11	99,262,294 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CGATCCCTCTATTTAGAAGCAGG -3'
(R):5'- TGGGTACTCCTCTGGTGACTTC -3'

Sequencing Primer
(F):5'- TCCCTCTATTTAGAAGCAGGAGAAG -3'
(R):5'- GGTGACTTCATCCCTTACTATGATC -3'

Posted On

2017-02-10