Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01568:Krt28'

91043

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: 0.061) question?

Stock #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

99255698-99265729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99262243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 249 (P249Q)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

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

AlphaFold

A6BLY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000006963
AA Change: P249Q

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

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: P249Q

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,258,270 (GRCm39)	L298*	probably null	Het
Capn15	G	T	17: 26,184,419 (GRCm39)	R21S	probably damaging	Het
Cbs	A	G	17: 31,840,488 (GRCm39)	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,798 (GRCm39)	I144T	probably benign	Het
Dok4	T	A	8: 95,593,430 (GRCm39)	I119F	probably benign	Het
Dpp9	T	C	17: 56,498,159 (GRCm39)	N599S	probably benign	Het
Ep400	T	C	5: 110,867,361 (GRCm39)	T984A	unknown	Het
Fcrl2	T	C	3: 87,163,986 (GRCm39)	N381S	probably damaging	Het
Fhod3	A	G	18: 25,253,219 (GRCm39)	I1390V	probably benign	Het
Gabbr1	A	G	17: 37,381,561 (GRCm39)	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,654,550 (GRCm39)	T46A	probably benign	Het
Gm3696	T	C	14: 18,435,020 (GRCm39)	N88S	probably benign	Het
Gm5277	A	G	3: 78,799,743 (GRCm39)		noncoding transcript	Het
Gpr153	C	A	4: 152,366,825 (GRCm39)		probably null	Het
Hgf	A	T	5: 16,769,812 (GRCm39)	K95N	probably damaging	Het
Igf2r	A	G	17: 12,902,872 (GRCm39)	S2393P	possibly damaging	Het
Ikbke	C	A	1: 131,185,633 (GRCm39)		probably null	Het
Il17re	G	T	6: 113,447,013 (GRCm39)	R588L	probably damaging	Het
Itch	T	C	2: 155,054,382 (GRCm39)		probably benign	Het
Krt1c	T	A	15: 101,721,646 (GRCm39)	D465V	probably damaging	Het
Lax1	A	T	1: 133,608,038 (GRCm39)	D234E	probably benign	Het
Mtmr3	A	G	11: 4,477,861 (GRCm39)	I61T	probably damaging	Het
Naip5	G	T	13: 100,353,609 (GRCm39)	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,669,802 (GRCm39)	T466A	probably benign	Het
Or5bw2	A	T	7: 6,573,569 (GRCm39)	H193L	possibly damaging	Het
Or8s2	T	C	15: 98,276,787 (GRCm39)	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,435,054 (GRCm39)	V340A	possibly damaging	Het
Pclo	C	T	5: 14,728,443 (GRCm39)		probably benign	Het
Piezo2	C	T	18: 63,163,463 (GRCm39)	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,620,378 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,720,958 (GRCm39)	H1432Y	probably damaging	Het
Rars1	A	G	11: 35,716,808 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,499,739 (GRCm39)		probably benign	Het
Sdr42e1	T	C	8: 118,390,182 (GRCm39)	Y153C	probably damaging	Het
Slc18a1	A	T	8: 69,518,278 (GRCm39)	S245R	probably damaging	Het
Spmip4	A	G	6: 50,550,678 (GRCm39)		probably benign	Het
Tns1	T	G	1: 73,992,668 (GRCm39)	D670A	probably damaging	Het
Trim16	T	A	11: 62,711,684 (GRCm39)	D118E	probably benign	Het
Trpv1	A	G	11: 73,129,269 (GRCm39)	D62G	probably benign	Het
Tyr	A	G	7: 87,087,156 (GRCm39)	L452P	probably damaging	Het
Ubr4	T	C	4: 139,148,684 (GRCm39)	C1723R	probably damaging	Het
Uqcrb	G	A	13: 67,049,459 (GRCm39)		probably benign	Het
Vax2	G	T	6: 83,688,519 (GRCm39)	V81L	possibly damaging	Het
Zan	A	G	5: 137,463,106 (GRCm39)	V691A	unknown	Het
Zfp335	A	G	2: 164,736,708 (GRCm39)	S976P	possibly damaging	Het
Zfp384	C	T	6: 125,001,095 (GRCm39)	P56S	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
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

2013-12-09