Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:Krt16'

577310

Institutional Source

Beutler Lab

Gene Symbol

Krt16

Ensembl Gene

ENSMUSG00000053797

Gene Name

keratin 16

Synonyms

Krt1-16, K16

MMRRC Submission

045522-MU

Accession Numbers

Essential gene?

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

Stock #

R7446 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

100136917-100139728 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAGTATCTG to C at 100137610 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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,441 (GRCm39)	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,738,412 (GRCm39)	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,055,837 (GRCm39)	R222W	probably damaging	Het
C2	G	A	17: 35,094,986 (GRCm39)	R250C	probably damaging	Het
Cdk15	A	G	1: 59,328,854 (GRCm39)	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,791,874 (GRCm39)	T2576A	possibly damaging	Het
Cfap61	C	T	2: 145,995,758 (GRCm39)	R1108C	probably benign	Het
Clca3a1	A	G	3: 144,733,188 (GRCm39)	S107P	possibly damaging	Het
Cplane1	A	G	15: 8,261,564 (GRCm39)	D2460G	probably damaging	Het
Cpsf1	A	G	15: 76,485,950 (GRCm39)	S407P	probably benign	Het
Crisp4	T	C	1: 18,192,962 (GRCm39)	T252A	probably damaging	Het
Ctbs	A	G	3: 146,164,573 (GRCm39)	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,186,874 (GRCm39)	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,503,650 (GRCm39)	I275T	possibly damaging	Het
Dcaf7	T	C	11: 105,944,561 (GRCm39)	V248A	probably benign	Het
Def8	T	C	8: 124,181,061 (GRCm39)	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,706,991 (GRCm39)	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,936,231 (GRCm39)	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720 (GRCm39)	S3307R	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Erf	A	T	7: 24,945,556 (GRCm39)	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,740,079 (GRCm39)	H47L	unknown	Het
Gm5591	C	T	7: 38,218,933 (GRCm39)	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 66,992,736 (GRCm39)		probably benign	Het
Guk1	T	C	11: 59,076,850 (GRCm39)	T78A	probably benign	Het
Hephl1	T	C	9: 15,009,347 (GRCm39)	T82A	probably damaging	Het
Htra4	A	G	8: 25,527,181 (GRCm39)	S205P	probably benign	Het
Jakmip2	T	C	18: 43,710,390 (GRCm39)	D271G	probably damaging	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Lrp2	C	A	2: 69,262,557 (GRCm39)	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,290,018 (GRCm39)	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,721,109 (GRCm39)	K646E	probably benign	Het
Mgam	T	C	6: 40,723,266 (GRCm39)	L457P	probably damaging	Het
Mink1	T	A	11: 70,500,455 (GRCm39)	S802T	probably benign	Het
Mrgprb5	C	T	7: 47,818,252 (GRCm39)	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,336,472 (GRCm39)	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,661,201 (GRCm39)	K51R	probably benign	Het
Myo1b	A	G	1: 51,803,065 (GRCm39)	F872S	possibly damaging	Het
Nbas	A	T	12: 13,443,499 (GRCm39)	T1185S	probably benign	Het
Oas1d	A	T	5: 121,058,054 (GRCm39)	I333L	probably benign	Het
Or10ak9	A	T	4: 118,726,019 (GRCm39)	I14F	possibly damaging	Het
Or4d10	A	G	19: 12,051,061 (GRCm39)	*312Q	probably null	Het
P2ry12	A	G	3: 59,124,632 (GRCm39)	*348Q	probably null	Het
Pik3cb	A	T	9: 98,928,711 (GRCm39)	V848E	probably damaging	Het
Plcz1	A	C	6: 139,959,312 (GRCm39)	S282A	possibly damaging	Het
Prss46	A	G	9: 110,679,189 (GRCm39)	D130G	probably damaging	Het
Pygl	T	C	12: 70,243,784 (GRCm39)	I644V	probably benign	Het
Ralgds	T	A	2: 28,435,901 (GRCm39)	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,712,767 (GRCm39)	D255G	probably benign	Het
Scaf4	T	C	16: 90,055,658 (GRCm39)	D133G	unknown	Het
Sdk1	G	A	5: 142,130,731 (GRCm39)	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,467,573 (GRCm39)	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,422,902 (GRCm39)	L207H	probably damaging	Het
Speer2	A	T	16: 69,654,965 (GRCm39)	S167T	possibly damaging	Het
Spock1	A	G	13: 57,583,898 (GRCm39)	I339T	unknown	Het
Srsf6	T	A	2: 162,776,636 (GRCm39)	S327T	unknown	Het
Syne1	T	A	10: 5,172,266 (GRCm39)	E5058D	probably benign	Het
Tcf19	A	G	17: 35,825,428 (GRCm39)	V243A	probably benign	Het
Tspan15	T	C	10: 62,029,734 (GRCm39)	D122G	probably benign	Het
Ttc17	C	T	2: 94,205,495 (GRCm39)	V284M	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,141,082 (GRCm39)	C360*	probably null	Het
Vmn1r181	A	C	7: 23,684,356 (GRCm39)	S274R	probably benign	Het
Xrcc5	T	C	1: 72,433,132 (GRCm39)		probably null	Het
Zfp277	C	T	12: 40,378,729 (GRCm39)	R376H	probably damaging	Het
Zfp629	T	C	7: 127,210,201 (GRCm39)	E536G	probably benign	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
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
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'- AGGACTCAGGGTCAACTCACTG -3'
(R):5'- AAGCCTGAATGTTTGGGAAAC -3'

Sequencing Primer
(F):5'- AGGGTCAACTCACTGGATATTCTCG -3'
(R):5'- GTTTCAGCAGAGACAGAG -3'

Posted On

2019-10-07