Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Krt16'

310267

Institutional Source

Beutler Lab

Gene Symbol

Krt16

Ensembl Gene

ENSMUSG00000053797

Gene Name

keratin 16

Synonyms

Krt1-16, K16

MMRRC Submission

040908-MU

Accession Numbers

Essential gene?

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

Stock #

R3907 (G1)

Quality Score

103

Status

Validated

Chromosome

Chromosomal Location

100136917-100139728 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100137989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 329 (V329A)

Ref Sequence

ENSEMBL: ENSMUSP00000007280 (fasta)

Gene Model

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

AlphaFold

Q9Z2K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007280
AA Change: V329A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797
AA Change: V329A

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

Meta Mutation Damage Score

0.3426

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ampd3	A	G	7: 110,392,877 (GRCm39)	D215G	possibly damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Apba1	T	C	19: 23,914,870 (GRCm39)	I690T	probably damaging	Het
Arid1a	T	C	4: 133,420,223 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asns	C	T	6: 7,682,270 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Asph	T	C	4: 9,474,934 (GRCm39)	K680R	probably benign	Het
Atp2b4	A	T	1: 133,666,324 (GRCm39)	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,012,007 (GRCm39)	M483K	probably damaging	Het
Car4	G	A	11: 84,855,183 (GRCm39)	V141M	probably damaging	Het
Cct4	A	G	11: 22,951,560 (GRCm39)	I376V	probably benign	Het
Chrm4	C	T	2: 91,758,084 (GRCm39)	A164V	probably damaging	Het
Csf3r	A	T	4: 125,928,240 (GRCm39)	D291V	probably benign	Het
Dcaf6	A	T	1: 165,251,949 (GRCm39)	C58*	probably null	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Defb4	A	T	8: 19,251,277 (GRCm39)	Q48L	possibly damaging	Het
Dnaaf9	C	T	2: 130,578,496 (GRCm39)	A663T	probably damaging	Het
Duox2	C	T	2: 122,113,541 (GRCm39)		probably null	Het
E130308A19Rik	C	T	4: 59,752,393 (GRCm39)	T502I	probably benign	Het
Ephb1	A	G	9: 101,878,925 (GRCm39)	C522R	probably benign	Het
Fam76a	T	C	4: 132,643,432 (GRCm39)	K101E	probably damaging	Het
Fat1	G	C	8: 45,476,072 (GRCm39)	R1706T	probably benign	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Gm10110	T	C	14: 90,135,583 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,540,716 (GRCm39)		probably benign	Het
Hars1	A	T	18: 36,915,769 (GRCm39)	D48E	probably benign	Het
Hmgcll1	G	A	9: 75,979,943 (GRCm39)	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,217,538 (GRCm39)	S18P	probably damaging	Het
Iws1	G	A	18: 32,212,973 (GRCm39)	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Loxhd1	A	T	18: 77,496,464 (GRCm39)	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 130,984,651 (GRCm39)	S234T	probably damaging	Het
Mxd1	G	T	6: 86,627,942 (GRCm39)	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,133,071 (GRCm39)	D905E	possibly damaging	Het
Or4c117	A	C	2: 88,955,927 (GRCm39)	Y49*	probably null	Het
Or6z7	A	T	7: 6,483,678 (GRCm39)	V159D	probably damaging	Het
Otoa	A	T	7: 120,724,788 (GRCm39)	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,282,431 (GRCm39)	S157P	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,410 (GRCm39)	I345T	probably benign	Het
Prrt4	G	T	6: 29,177,173 (GRCm39)	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,702,239 (GRCm39)	D347G	possibly damaging	Het
Pwwp3a	T	C	10: 80,074,150 (GRCm39)	V401A	probably damaging	Het
Rcan1	A	G	16: 92,262,917 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,002,557 (GRCm39)	L2004F	probably benign	Het
Rnf185	A	G	11: 3,376,681 (GRCm39)		probably benign	Het
Shank2	C	T	7: 143,963,313 (GRCm39)	P307L	probably damaging	Het
Slc19a3	G	A	1: 82,992,534 (GRCm39)	R396C	possibly damaging	Het
Stn1	T	C	19: 47,496,262 (GRCm39)	D321G	probably damaging	Het
Taar7a	T	C	10: 23,868,457 (GRCm39)	Y308C	probably benign	Het
Tespa1	T	C	10: 130,192,666 (GRCm39)		probably benign	Het
Tmcc2	T	C	1: 132,288,376 (GRCm39)	D359G	probably damaging	Het
Trhde	C	T	10: 114,636,601 (GRCm39)	G202E	possibly damaging	Het
Trip12	T	C	1: 84,709,827 (GRCm39)	T469A	possibly damaging	Het
Trip4	A	G	9: 65,740,708 (GRCm39)	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,653,983 (GRCm39)	I154T	probably damaging	Het
Ttn	C	A	2: 76,733,686 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Usp54	A	T	14: 20,636,181 (GRCm39)	S288T	probably damaging	Het
Utrn	C	T	10: 12,585,926 (GRCm39)		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
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'- CCAGCTGGAGCAGTATTTAGAAG -3'
(R):5'- AGGCCTGGTTCCTGAGAAAG -3'

Sequencing Primer
(F):5'- CCCAAACATTCAGGCTTTAATTTC -3'
(R):5'- CCTGAGAAAGGTGGGGGCC -3'

Posted On

2015-04-17