Mutagenetix > Incidental Mutations

Incidental Mutation 'R7194:Krt28'

559806

Institutional Source

Beutler Lab

Gene Symbol

Krt28

Ensembl Gene

ENSMUSG00000055937

Gene Name

keratin 28

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99364872-99374903 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99374404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 146 (K146*)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

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

AlphaFold

A6BLY7

Predicted Effect

probably null
Transcript: ENSMUST00000006963
AA Change: K146*

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: K146*

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,164,775	E429D	probably benign	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Aadat	A	G	8: 60,526,622	I173V	probably benign	Het
Abi3bp	C	T	16: 56,562,371	R115C	probably damaging	Het
Adam18	A	G	8: 24,651,852	S234P	possibly damaging	Het
Adam20	A	G	8: 40,796,412	R520G	probably benign	Het
Angel2	C	G	1: 190,944,997	T514R	probably damaging	Het
Ankar	A	T	1: 72,659,033	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,343	Y262F	probably benign	Het
Ano8	C	A	8: 71,482,363	L398F	possibly damaging	Het
App	C	T	16: 85,025,431	V356I	probably benign	Het
Atp1a2	C	A	1: 172,280,627	E636*	probably null	Het
Cckbr	G	A	7: 105,435,345	E429K	possibly damaging	Het
Cfi	T	G	3: 129,855,059	S197R	probably damaging	Het
Chn2	A	G	6: 54,286,177		probably null	Het
Col3a1	C	A	1: 45,331,700	A405D	unknown	Het
Colec12	A	T	18: 9,848,248	N142I	probably benign	Het
Copa	T	C	1: 172,119,944	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,174,752	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,391,768	Y204C	probably benign	Het
Defa17	A	G	8: 21,656,597	T80A	probably benign	Het
Dppa5a	C	T	9: 78,367,720		probably null	Het
Fat4	G	T	3: 38,888,884	S642I	probably damaging	Het
Fat4	T	A	3: 38,983,895	C3899S	probably damaging	Het
Fn1	A	G	1: 71,602,323	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,088,961	I104L	unknown	Het
Gm15448	A	G	7: 3,824,793	W122R		Het
Gpr139	C	T	7: 119,144,673	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,487	N452S	probably benign	Het
Hmox1	T	C	8: 75,096,923	V73A	probably benign	Het
Hspa4	A	G	11: 53,265,938	F641L	probably damaging	Het
Ifi207	T	G	1: 173,729,924	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,632,044	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,843,833	V4482G	unknown	Het
Krt82	T	C	15: 101,542,756	N406S	probably damaging	Het
Marveld3	A	T	8: 109,959,845		probably null	Het
Mllt6	C	T	11: 97,673,568	S370L	probably benign	Het
Muc16	A	G	9: 18,674,454	L26S	unknown	Het
Mup12	T	A	4: 60,740,735	E48V	probably benign	Het
Myh1	G	A	11: 67,211,357	V825I	probably benign	Het
Nipal3	G	A	4: 135,474,421	T152I	probably benign	Het
Nrg3	A	T	14: 39,472,478	M108K	probably benign	Het
Olfr961	G	A	9: 39,647,091	V122I	probably benign	Het
Oog3	A	T	4: 144,162,599	I3N	probably damaging	Het
Pkhd1l1	T	C	15: 44,529,116	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,348,192		probably null	Het
Ppfibp2	T	A	7: 107,722,980		probably null	Het
Ppp4c	T	C	7: 126,786,481	N229D	probably damaging	Het
Ptpn9	T	C	9: 57,022,286	F96L	probably damaging	Het
Pygl	A	G	12: 70,194,320	V742A	probably benign	Het
Ranbp2	A	G	10: 58,476,769	T1104A	probably benign	Het
Rasal1	G	A	5: 120,675,492	A644T	probably benign	Het
Rcor3	T	A	1: 192,125,961	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,955,143	I37N	probably damaging	Het
Rnf112	C	T	11: 61,450,857	G374R	probably damaging	Het
Rrp12	T	C	19: 41,871,540	I1034V	probably benign	Het
Sacs	T	A	14: 61,210,089	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,324,236	I1243T	probably benign	Het
Sirt7	A	T	11: 120,618,973	C362S	probably benign	Het
Slc17a6	T	A	7: 51,626,892	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,209,899	Y60S	probably damaging	Het
Syne1	T	C	10: 5,110,859	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,141,595	T95I	probably benign	Het
Trip12	A	T	1: 84,794,222	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,510,513	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,292,783	N403I	probably damaging	Het
Zbtb11	T	C	16: 56,007,188	S1006P	probably damaging	Het

Other mutations in Krt28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Krt28	APN	11	99371468	missense	probably benign	0.00
IGL01568:Krt28	APN	11	99371417	missense	probably damaging	1.00
IGL01590:Krt28	APN	11	99374394	critical splice donor site	probably null
R1250:Krt28	UTSW	11	99366822	critical splice donor site	probably null
R1488:Krt28	UTSW	11	99365171	missense	probably benign	0.01
R2116:Krt28	UTSW	11	99365117	missense	probably benign	0.27
R4244:Krt28	UTSW	11	99374550	missense	probably damaging	1.00
R4862:Krt28	UTSW	11	99365110	missense	possibly damaging	0.92
R4928:Krt28	UTSW	11	99374632	missense	probably benign	0.00
R5035:Krt28	UTSW	11	99366824	missense	probably benign	0.00
R5568:Krt28	UTSW	11	99371384	missense	probably damaging	1.00
R5642:Krt28	UTSW	11	99374494	missense	probably damaging	1.00
R5873:Krt28	UTSW	11	99366890	missense	probably damaging	1.00
R6053:Krt28	UTSW	11	99371201	missense	probably benign	0.05
R6548:Krt28	UTSW	11	99367013	missense	probably damaging	1.00
R7863:Krt28	UTSW	11	99365173	missense	possibly damaging	0.65
R7986:Krt28	UTSW	11	99366825	missense	probably benign	0.00
R8415:Krt28	UTSW	11	99374800	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCAAAATAGACAGTGGGATTCAC -3'
(R):5'- TCCTCTCTGGAAACGAGAAGGTC -3'

Sequencing Primer
(F):5'- CATTGAAAGTATTGAACCAAGGCTCC -3'
(R):5'- GGTCACCATGCAGAATCTTAAC -3'

Posted On

2019-06-26