Mutagenetix > Incidental Mutation

Incidental Mutation 'R5035:Krt28'

452809

Institutional Source

Beutler Lab

Gene Symbol

Krt28

Ensembl Gene

ENSMUSG00000055937

Gene Name

keratin 28

Synonyms

4733401L19Rik

MMRRC Submission

042626-MU

Accession Numbers

Essential gene?

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

Stock #

R5035 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99255698-99265729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99257650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 397 (N397S)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

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

AlphaFold

A6BLY7

Predicted Effect

probably benign
Transcript: ENSMUST00000006963
AA Change: N397S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: N397S

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

Meta Mutation Damage Score

0.0740

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (46/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,810 (GRCm39)	I361V	probably benign	Het
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Bcas3	C	T	11: 85,434,771 (GRCm39)	A552V	probably damaging	Het
Bfsp2	T	G	9: 103,357,065 (GRCm39)	T121P	probably benign	Het
Bicra	C	T	7: 15,713,349 (GRCm39)	R951Q	possibly damaging	Het
Cdc40	G	A	10: 40,725,809 (GRCm39)	T220I	probably benign	Het
Cdk5rap3	T	C	11: 96,806,911 (GRCm39)		probably benign	Het
Clcnka	A	T	4: 141,122,469 (GRCm39)	Y179*	probably null	Het
Creb3l1	T	A	2: 91,817,431 (GRCm39)	I361F	probably benign	Het
Csmd3	T	C	15: 47,454,175 (GRCm39)	Y3557C	probably damaging	Het
Dab2ip	A	G	2: 35,599,953 (GRCm39)	S190G	probably benign	Het
Dbx1	T	C	7: 49,282,284 (GRCm39)	H307R	unknown	Het
Dock8	C	A	19: 25,063,571 (GRCm39)	P258T	probably damaging	Het
Eml6	T	C	11: 29,804,187 (GRCm39)	I305V	probably benign	Het
Frem3	T	A	8: 81,342,543 (GRCm39)	F1612Y	probably damaging	Het
Fubp1	A	G	3: 151,920,488 (GRCm39)	T76A	probably benign	Het
Glmp	G	C	3: 88,233,951 (GRCm39)		probably benign	Het
Gm20918	A	G	Y: 5,045,992 (GRCm39)	Q183R	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map3k13	T	C	16: 21,740,421 (GRCm39)	Y583H	probably benign	Het
Mcm3	A	T	1: 20,873,642 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,663,790 (GRCm39)	V588A	probably benign	Het
Or1j19	A	G	2: 36,676,903 (GRCm39)	D122G	probably damaging	Het
Or2z9	T	A	8: 72,853,922 (GRCm39)	L106H	probably damaging	Het
Or4c105	A	T	2: 88,648,443 (GRCm39)	K309N	probably benign	Het
Or51a43	G	A	7: 103,717,614 (GRCm39)	T208I	possibly damaging	Het
Or8g37	G	A	9: 39,731,390 (GRCm39)	A152T	possibly damaging	Het
Osbpl9	A	G	4: 108,923,364 (GRCm39)	F449L	probably damaging	Het
Pkhd1l1	A	G	15: 44,431,720 (GRCm39)	D3358G	probably damaging	Het
Prodh2	A	T	7: 30,205,904 (GRCm39)	S247C	possibly damaging	Het
Prr23a3	G	A	9: 98,747,183 (GRCm39)	E46K	possibly damaging	Het
Ptprz1	A	G	6: 23,016,214 (GRCm39)	I837V	probably benign	Het
Rabgap1l	A	C	1: 160,551,606 (GRCm39)	F263V	probably damaging	Het
Rnf4	A	G	5: 34,508,683 (GRCm39)	K182E	probably damaging	Het
Slc24a2	G	T	4: 86,929,943 (GRCm39)	R469S	possibly damaging	Het
Speer2	A	G	16: 69,654,829 (GRCm39)		probably null	Het
Tg	C	A	15: 66,553,662 (GRCm39)		probably null	Het
Tns1	G	A	1: 73,992,979 (GRCm39)		probably benign	Het
Top2b	G	T	14: 16,409,966 (GRCm38)	A878S	probably benign	Het
Trgc4	G	T	13: 19,536,506 (GRCm39)	R188L	unknown	Het
Ugt3a1	G	A	15: 9,361,704 (GRCm39)	R160Q	probably benign	Het
Ush2a	G	T	1: 188,643,005 (GRCm39)	L4122F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGCAGATTGGGGTCAGG -3'
(R):5'- TGCTAAGTAACTCAGGGCTGG -3'

Sequencing Primer
(F):5'- CAGTGCTTAACATGGATGGTAATG -3'
(R):5'- CTGGGTACTCCTCTGGTGAC -3'

Posted On

2017-01-06