Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02512:Krt16'

296625

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt16

Ensembl Gene

ENSMUSG00000053797

Gene Name

keratin 16

Synonyms

Krt1-16, K16

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02512

Quality Score

Status

Chromosome

Chromosomal Location

100136917-100139728 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 100137162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000007280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007280]

AlphaFold

Q9Z2K1

Predicted Effect

probably benign
Transcript: ENSMUST00000007280

SMART Domains

Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
Filament	112	423	8.41e-170	SMART
low complexity region	454	467	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119257

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The encoded protein is a cytokeratin and acts as an innate immune system effector, promoting the inflammatory response upon breach of the skin barrier. Defects in this gene are a cause of pachyonychia congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	C	A	15: 90,111,752 (GRCm39)	H199N	probably benign	Het
Ankrd13a	T	A	5: 114,924,827 (GRCm39)	M104K	probably benign	Het
Ankrd37	A	G	8: 46,452,325 (GRCm39)	L48P	probably damaging	Het
Ankzf1	T	A	1: 75,169,222 (GRCm39)	L43M	probably damaging	Het
Ano10	A	C	9: 122,101,540 (GRCm39)	V77G	possibly damaging	Het
Arg2	G	A	12: 79,194,517 (GRCm39)	V114I	probably benign	Het
Asah1	A	C	8: 41,813,344 (GRCm39)		probably benign	Het
Clpx	A	C	9: 65,217,533 (GRCm39)	I34L	probably benign	Het
Cnga2	G	A	X: 71,052,531 (GRCm39)	V469I	probably damaging	Het
Dock9	A	T	14: 121,856,950 (GRCm39)		probably benign	Het
Eaf1	A	G	14: 31,219,743 (GRCm39)	T61A	possibly damaging	Het
Exoc3l	T	A	8: 106,017,115 (GRCm39)	D624V	probably damaging	Het
Fancd2	A	G	6: 113,547,904 (GRCm39)	D927G	probably damaging	Het
Fbn1	A	T	2: 125,180,380 (GRCm39)	Y1801N	probably damaging	Het
Garnl3	A	G	2: 32,921,150 (GRCm39)	Y292H	probably damaging	Het
Gpr174	A	T	X: 106,336,577 (GRCm39)	K130*	probably null	Het
Greb1	C	T	12: 16,742,713 (GRCm39)	V1379I	possibly damaging	Het
Grik2	A	T	10: 49,232,008 (GRCm39)	D507E	probably benign	Het
Gsn	A	T	2: 35,173,962 (GRCm39)	K24*	probably null	Het
Ift80	A	G	3: 68,835,058 (GRCm39)		probably null	Het
Inpp5j	T	A	11: 3,449,661 (GRCm39)	Y707F	probably damaging	Het
Ints13	A	T	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kcnh1	T	C	1: 192,187,689 (GRCm39)	F717L	possibly damaging	Het
Klhdc8a	T	C	1: 132,230,895 (GRCm39)		probably null	Het
Klkb1	G	A	8: 45,729,277 (GRCm39)		probably benign	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Myo6	T	A	9: 80,199,801 (GRCm39)		probably null	Het
Nampt	T	A	12: 32,880,268 (GRCm39)	Y54N	possibly damaging	Het
Neurog2	G	T	3: 127,427,504 (GRCm39)	E43*	probably null	Het
Obscn	C	T	11: 58,919,343 (GRCm39)	R6887H	probably damaging	Het
Or10ag58	A	G	2: 87,265,402 (GRCm39)	I190M	possibly damaging	Het
Or5ac25	T	C	16: 59,182,171 (GRCm39)	N137D	possibly damaging	Het
Or6c203	A	G	10: 129,010,119 (GRCm39)	I257T	possibly damaging	Het
Pdss1	A	G	2: 22,802,658 (GRCm39)	I166V	probably damaging	Het
Phaf1	G	A	8: 105,961,110 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Reln	A	G	5: 22,245,425 (GRCm39)	Y728H	probably benign	Het
Sec31a	T	C	5: 100,555,052 (GRCm39)	D56G	probably damaging	Het
Shroom1	T	A	11: 53,357,386 (GRCm39)	V683E	probably damaging	Het
Slc5a11	A	G	7: 122,864,478 (GRCm39)	D358G	probably damaging	Het
Slfn3	T	A	11: 83,103,851 (GRCm39)	S241T	possibly damaging	Het
Slitrk3	G	A	3: 72,957,735 (GRCm39)	P346S	probably benign	Het
Specc1	T	A	11: 62,009,215 (GRCm39)	S324T	probably damaging	Het
Sptlc3	T	C	2: 139,389,123 (GRCm39)	Y168H	probably damaging	Het
St3gal6	C	T	16: 58,293,822 (GRCm39)	E236K	probably benign	Het
Tet2	A	T	3: 133,175,069 (GRCm39)	M1426K	probably benign	Het
Tinag	A	T	9: 76,939,069 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,993,415 (GRCm39)	S53P	probably damaging	Het
Uimc1	T	C	13: 55,188,431 (GRCm39)	T543A	possibly damaging	Het
Wdfy4	A	G	14: 32,764,448 (GRCm39)	W2147R	probably benign	Het
Zmym1	C	T	4: 126,942,465 (GRCm39)	C641Y	probably damaging	Het

Other mutations in Krt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Krt16	APN	11	100,139,543 (GRCm39)	nonsense	probably null
IGL01794:Krt16	APN	11	100,138,731 (GRCm39)	missense	probably benign	0.00
IGL01795:Krt16	APN	11	100,138,550 (GRCm39)	splice site	probably benign
IGL02221:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02243:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02410:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02451:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02457:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02745:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02867:Krt16	APN	11	100,138,402 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Krt16	UTSW	11	100,139,575 (GRCm39)	missense	unknown
PIT4472001:Krt16	UTSW	11	100,138,732 (GRCm39)	missense	probably benign	0.04
R0268:Krt16	UTSW	11	100,137,351 (GRCm39)	splice site	probably benign
R0709:Krt16	UTSW	11	100,137,280 (GRCm39)	splice site	probably benign
R1560:Krt16	UTSW	11	100,137,475 (GRCm39)	missense	probably damaging	1.00
R1728:Krt16	UTSW	11	100,138,533 (GRCm39)	missense	probably damaging	1.00
R1996:Krt16	UTSW	11	100,139,614 (GRCm39)	missense	unknown
R2927:Krt16	UTSW	11	100,139,625 (GRCm39)	missense	unknown
R3806:Krt16	UTSW	11	100,139,566 (GRCm39)	missense	unknown
R3907:Krt16	UTSW	11	100,137,989 (GRCm39)	missense	possibly damaging	0.83
R5133:Krt16	UTSW	11	100,138,457 (GRCm39)	missense	probably damaging	0.99
R5412:Krt16	UTSW	11	100,137,593 (GRCm39)	missense	probably damaging	1.00
R5723:Krt16	UTSW	11	100,139,272 (GRCm39)	missense	probably damaging	0.99
R6270:Krt16	UTSW	11	100,138,029 (GRCm39)	missense	possibly damaging	0.51
R6368:Krt16	UTSW	11	100,137,502 (GRCm39)	missense	probably damaging	1.00
R7191:Krt16	UTSW	11	100,137,484 (GRCm39)	missense	probably damaging	1.00
R7314:Krt16	UTSW	11	100,138,695 (GRCm39)	missense	probably damaging	1.00
R7446:Krt16	UTSW	11	100,137,610 (GRCm39)	frame shift	probably null
R7825:Krt16	UTSW	11	100,139,460 (GRCm39)	missense	unknown
R7852:Krt16	UTSW	11	100,137,592 (GRCm39)	missense	probably damaging	1.00
R8053:Krt16	UTSW	11	100,137,613 (GRCm39)	missense	probably damaging	1.00
R8251:Krt16	UTSW	11	100,139,196 (GRCm39)	critical splice donor site	probably null
R8526:Krt16	UTSW	11	100,137,309 (GRCm39)	missense	probably benign	0.00
R8547:Krt16	UTSW	11	100,137,083 (GRCm39)	nonsense	probably null
R8834:Krt16	UTSW	11	100,139,236 (GRCm39)	missense	probably damaging	1.00
R9607:Krt16	UTSW	11	100,138,453 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16