Mutagenetix > Incidental Mutation

Incidental Mutation 'R0268:Krt16'

35090

Institutional Source

Beutler Lab

Gene Symbol

Krt16

Ensembl Gene

ENSMUSG00000053797

Gene Name

keratin 16

Synonyms

Krt1-16, K16

MMRRC Submission

038494-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0268 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

100136917-100139728 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 100137351 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

1x: 98.7%
3x: 97.7%
10x: 95.9%
20x: 93.0%

Validation Efficiency

98% (93/95)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,274,027 (GRCm39)		noncoding transcript	Het
Aadacl4	A	T	4: 144,349,565 (GRCm39)	H274L	probably benign	Het
Aldh1a7	T	A	19: 20,686,866 (GRCm39)		probably null	Het
Ap3m1	A	C	14: 21,087,170 (GRCm39)		probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Avpr1a	T	C	10: 122,285,614 (GRCm39)	V302A	probably damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Cd209e	T	C	8: 3,899,125 (GRCm39)	I196V	probably benign	Het
Cdc42bpa	G	T	1: 179,983,347 (GRCm39)		probably benign	Het
Cdcp3	A	G	7: 130,839,905 (GRCm39)	D609G	probably damaging	Het
Clec16a	T	A	16: 10,462,692 (GRCm39)	L670*	probably null	Het
Cmtm2b	A	G	8: 105,049,066 (GRCm39)	E27G	probably damaging	Het
Col4a1	T	A	8: 11,317,588 (GRCm39)		probably benign	Het
Cyp26b1	A	T	6: 84,551,554 (GRCm39)	F221I	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dip2c	G	A	13: 9,687,186 (GRCm39)	R1270H	probably damaging	Het
Dlg1	T	C	16: 31,503,011 (GRCm39)	C73R	probably benign	Het
Dnah8	A	G	17: 30,988,681 (GRCm39)	D3217G	probably damaging	Het
Dtx1	T	C	5: 120,819,356 (GRCm39)	E614G	probably damaging	Het
Dut	C	A	2: 125,099,011 (GRCm39)	A166E	probably damaging	Het
Ebf1	C	A	11: 44,534,240 (GRCm39)	D166E	probably damaging	Het
Egln2	A	T	7: 26,864,672 (GRCm39)	D84E	possibly damaging	Het
Exosc7	T	A	9: 122,948,025 (GRCm39)	S65T	probably benign	Het
Fam83e	G	A	7: 45,376,334 (GRCm39)	R349Q	probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,884,868 (GRCm39)	N2582S	probably damaging	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gls	GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTG	1: 52,271,853 (GRCm39)		probably benign	Het
Hcn4	A	C	9: 58,767,445 (GRCm39)	E1002A	unknown	Het
Hcrtr2	A	G	9: 76,135,470 (GRCm39)	V449A	probably benign	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	C	A	12: 51,815,890 (GRCm39)	S1394I	probably damaging	Het
Hecw2	A	G	1: 53,965,857 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itsn2	G	A	12: 4,750,333 (GRCm39)	R1199Q	probably benign	Het
Kcnj3	C	A	2: 55,484,971 (GRCm39)	Y356*	probably null	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Klhl35	T	A	7: 99,120,958 (GRCm39)	S409T	probably benign	Het
Krt82	C	A	15: 101,450,148 (GRCm39)	R516L	probably benign	Het
Lce3a	A	T	3: 92,833,038 (GRCm39)	C21S	unknown	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Map2	A	T	1: 66,419,881 (GRCm39)	K71*	probably null	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Mycbp2	T	A	14: 103,551,761 (GRCm39)	R157*	probably null	Het
Nat10	C	A	2: 103,558,262 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,958,098 (GRCm39)	T3810M	possibly damaging	Het
Or13a19	G	A	7: 139,903,068 (GRCm39)	S152N	possibly damaging	Het
Or1x6	T	A	11: 50,939,768 (GRCm39)	M278K	probably damaging	Het
Or5d35	A	T	2: 87,855,812 (GRCm39)	I249F	probably damaging	Het
Or5g29	A	G	2: 85,421,645 (GRCm39)	T254A	possibly damaging	Het
Or6c209	A	T	10: 129,483,045 (GRCm39)	D16V	possibly damaging	Het
Or7a38	C	T	10: 78,753,439 (GRCm39)	T255I	probably damaging	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgm2	T	A	5: 64,263,151 (GRCm39)	V266E	probably damaging	Het
Phip	G	A	9: 82,753,341 (GRCm39)	T1801I	probably damaging	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Ppp1r12a	T	A	10: 108,109,242 (GRCm39)		probably benign	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Ptprq	A	T	10: 107,541,409 (GRCm39)	D372E	probably benign	Het
Ptprr	G	A	10: 116,088,868 (GRCm39)	V340I	possibly damaging	Het
Qki	A	G	17: 10,428,575 (GRCm39)		probably benign	Het
Qpct	T	A	17: 79,385,081 (GRCm39)	D240E	probably benign	Het
Ren1	A	G	1: 133,283,349 (GRCm39)	T162A	possibly damaging	Het
Rif1	T	C	2: 51,980,298 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,890,460 (GRCm39)	V461A	probably damaging	Het
Saxo4	A	G	19: 10,454,449 (GRCm39)	V329A	possibly damaging	Het
Scgb1b24	G	A	7: 33,443,278 (GRCm39)	G19R	probably null	Het
Spen	A	T	4: 141,204,868 (GRCm39)	I1253N	unknown	Het
Sspo	C	A	6: 48,442,489 (GRCm39)	H1995N	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Togaram2	T	C	17: 72,004,993 (GRCm39)		probably null	Het
Trim65	T	A	11: 116,017,470 (GRCm39)		probably benign	Het
Trpm3	T	A	19: 22,874,885 (GRCm39)		probably null	Het
Ubxn7	T	C	16: 32,178,864 (GRCm39)	I87T	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r102	A	G	17: 19,898,112 (GRCm39)	T376A	probably benign	Het
Vmn2r105	A	T	17: 20,428,938 (GRCm39)	C713S	probably benign	Het
Zbtb45	C	T	7: 12,742,254 (GRCm39)	M1I	probably null	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	Het
Zfp932	T	C	5: 110,156,929 (GRCm39)	I176T	probably benign	Het
Zswim1	G	A	2: 164,668,046 (GRCm39)	E433K	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGGTTGAACCTTGCTCCTTG -3'
(R):5'- CTTCCCTCACAGAAAGCATCCTTGG -3'

Sequencing Primer
(F):5'- CTTGAGGATGGACCGGGG -3'
(R):5'- AGCATCCTTGGAGAACAGC -3'

Posted On

2013-05-09