Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:Krt16'

427548

Institutional Source

Beutler Lab

Gene Symbol

Krt16

Ensembl Gene

ENSMUSG00000053797

Gene Name

keratin 16

Synonyms

Krt1-16, K16

MMRRC Submission

042981-MU

Accession Numbers

Essential gene?

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

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100136917-100139728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100137593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 371 (I371F)

Ref Sequence

ENSEMBL: ENSMUSP00000007280 (fasta)

Gene Model

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

AlphaFold

Q9Z2K1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007280
AA Change: I371F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797
AA Change: I371F

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,886,036 (GRCm39)	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,396,007 (GRCm39)	E246D	probably benign	Het
Arid1a	T	C	4: 133,446,913 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,653,522 (GRCm39)	D300E	probably benign	Het
C3	T	C	17: 57,527,187 (GRCm39)	D754G	probably benign	Het
Ccpg1	A	T	9: 72,917,588 (GRCm39)	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,941,115 (GRCm39)	P650S	probably damaging	Het
Celsr2	G	T	3: 108,307,311 (GRCm39)	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,764,709 (GRCm39)	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,689,630 (GRCm39)	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,674,503 (GRCm39)	S425G	probably benign	Het
Espn	C	T	4: 152,212,582 (GRCm39)	V752M	probably damaging	Het
Glyr1	A	G	16: 4,854,297 (GRCm39)	S113P	possibly damaging	Het
Grk4	A	T	5: 34,902,612 (GRCm39)	Y388F	probably benign	Het
H2-T15	C	T	17: 36,366,936 (GRCm39)	C369Y	probably benign	Het
Heca	C	A	10: 17,778,044 (GRCm39)	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,236,629 (GRCm39)	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,510,529 (GRCm39)		probably benign	Het
Hsd3b2	A	G	3: 98,619,208 (GRCm39)	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,738,380 (GRCm39)	P62L	probably damaging	Het
Katnal2	A	T	18: 77,090,131 (GRCm39)	V292D	probably damaging	Het
Ly6g2	A	T	15: 75,089,669 (GRCm39)	E59V	probably damaging	Het
Map10	A	T	8: 126,397,724 (GRCm39)	L372F	probably damaging	Het
Megf10	A	T	18: 57,324,219 (GRCm39)	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,249,701 (GRCm39)	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,821,226 (GRCm39)	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,205,508 (GRCm39)	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,195 (GRCm39)	R121L	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or6a2	A	G	7: 106,600,842 (GRCm39)	V75A	probably damaging	Het
Otop1	A	G	5: 38,455,328 (GRCm39)	I241V	probably benign	Het
Panx2	C	A	15: 88,953,135 (GRCm39)	P542H	possibly damaging	Het
Pcdha5	C	A	18: 37,095,510 (GRCm39)	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Prdx6	A	T	1: 161,071,860 (GRCm39)	I102N	probably damaging	Het
Prkd3	T	A	17: 79,262,140 (GRCm39)	I725F	possibly damaging	Het
Selenon	T	C	4: 134,269,749 (GRCm39)	N395S	probably benign	Het
Serpinb8	G	A	1: 107,533,616 (GRCm39)	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,213,496 (GRCm39)	M18V	probably benign	Het
Smc6	A	G	12: 11,335,400 (GRCm39)	E318G	possibly damaging	Het
Srrt	A	T	5: 137,294,549 (GRCm39)	Y786N	probably damaging	Het
Stk36	G	T	1: 74,644,615 (GRCm39)		probably null	Het
Stpg1	T	A	4: 135,252,786 (GRCm39)	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,907,885 (GRCm39)	M1I	probably null	Het
Tiam1	G	T	16: 89,681,753 (GRCm39)	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,253,855 (GRCm39)	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,719,368 (GRCm39)	I184S	probably null	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,531 (GRCm39)	A868T	probably damaging	Het
Wdr81	C	T	11: 75,341,620 (GRCm39)	D1216N	probably null	Het
Zfp26	T	C	9: 20,349,535 (GRCm39)	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,982,520 (GRCm39)	I95F	probably damaging	Het
Zfp330	T	C	8: 83,490,865 (GRCm39)	E315G	probably benign	Het
Zfp683	C	A	4: 133,781,862 (GRCm39)	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,052,646 (GRCm39)	S323C	possibly 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
IGL02512: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
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

Predicted Primers

PCR Primer
(F):5'- CAGCAGCATTAGATGTGCAG -3'
(R):5'- CAGCTGGGGTCAAGATCTATGTAC -3'

Sequencing Primer
(F):5'- AGCAAGGACTCAGGGTCAACTC -3'
(R):5'- GTACCTATCTCAATAATGTGCCCAGG -3'

Posted On

2016-09-01