Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Krt19'

369450

Institutional Source

Beutler Lab

Gene Symbol

Krt19

Ensembl Gene

ENSMUSG00000020911

Gene Name

keratin 19

Synonyms

cytokeratin 19, cytokeratin19, Krt-1.19, EndoC, K19, cytokeratin-19, Krt1-19

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100031636-100036752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100032174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 297 (T297A)

Ref Sequence

ENSEMBL: ENSMUSP00000007317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007317]

AlphaFold

P19001

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007317
AA Change: T297A

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007317
Gene: ENSMUSG00000020911
AA Change: T297A

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
low complexity region	38	70	N/A	INTRINSIC
Filament	82	393	4.4e-173	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126460

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. Mice homozygous for a reporter allele show partial and strain-dependent preweaning lethality but no anatomical or behavioral defects. Mice that are either homozygous or heterozygous for a targeted insertion into intron 6 exhibit sperm tail defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,952 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,201,740 (GRCm39)	G208R	probably benign	Het
Arsg	G	T	11: 109,424,898 (GRCm39)	V290L	probably benign	Het
Cad	A	G	5: 31,232,034 (GRCm39)	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020 (GRCm39)	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,877 (GRCm39)	T113A	probably benign	Het
Crocc2	G	A	1: 93,133,618 (GRCm39)	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,764,080 (GRCm39)	T291A	probably benign	Het
Dcc	T	A	18: 71,432,554 (GRCm39)	H1300L	probably benign	Het
Ddx23	T	A	15: 98,545,352 (GRCm39)		probably null	Het
Dnhd1	T	G	7: 105,363,488 (GRCm39)	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,293,703 (GRCm39)	F729L	probably damaging	Het
Ercc6	G	T	14: 32,296,886 (GRCm39)	R1292L	probably benign	Het
Fam186b	C	T	15: 99,178,118 (GRCm39)	V403M	probably benign	Het
Fam227a	T	C	15: 79,499,628 (GRCm39)	N576D	possibly damaging	Het
Fbln1	A	G	15: 85,111,167 (GRCm39)		probably null	Het
Fbxw17	T	C	13: 50,579,669 (GRCm39)	V162A	probably benign	Het
Gas2l1	A	C	11: 5,014,436 (GRCm39)	I8S	probably damaging	Het
Golgb1	T	C	16: 36,711,781 (GRCm39)	L195P	probably damaging	Het
Gps2	A	T	11: 69,806,754 (GRCm39)	H233L	probably damaging	Het
Guf1	T	G	5: 69,721,852 (GRCm39)		probably null	Het
H2-T9	A	G	17: 36,438,668 (GRCm39)	L241S	probably damaging	Het
Il1rap	T	A	16: 26,519,988 (GRCm39)		probably null	Het
Ints14	A	G	9: 64,871,800 (GRCm39)	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,177,339 (GRCm39)	Q293H	probably damaging	Het
Kank2	A	G	9: 21,687,043 (GRCm39)	L593P	probably damaging	Het
Lcp1	T	C	14: 75,437,848 (GRCm39)	V86A	probably damaging	Het
Lins1	T	A	7: 66,357,898 (GRCm39)	I11K	probably benign	Het
Lrba	T	C	3: 86,683,448 (GRCm39)	F2757L	probably damaging	Het
Lyst	T	C	13: 13,951,685 (GRCm39)	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,525,851 (GRCm39)	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,853,175 (GRCm39)	Q38L	probably benign	Het
Mtss1	A	G	15: 58,815,922 (GRCm39)	F546S	probably damaging	Het
Myo5a	G	A	9: 75,048,825 (GRCm39)		probably null	Het
Naip6	C	A	13: 100,422,299 (GRCm39)	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,584,645 (GRCm39)	T107I	probably benign	Het
Nek8	C	T	11: 78,058,544 (GRCm39)		probably null	Het
Nphs1	T	C	7: 30,159,854 (GRCm39)	V55A	probably damaging	Het
Nrp2	C	A	1: 62,758,240 (GRCm39)	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,933,448 (GRCm39)	S39N	probably damaging	Het
Or13g1	T	C	7: 85,956,166 (GRCm39)	T52A	probably benign	Het
Or2y1e	T	G	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or5d37	A	G	2: 87,923,876 (GRCm39)	F135L	probably benign	Het
Or7h8	A	T	9: 20,124,049 (GRCm39)	I135F	probably damaging	Het
Pan3	T	A	5: 147,466,868 (GRCm39)	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,243,842 (GRCm39)	S291A	probably benign	Het
Pcdh17	A	C	14: 84,685,375 (GRCm39)	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,830,606 (GRCm39)	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,844 (GRCm39)	E126*	probably null	Het
Pik3ap1	A	G	19: 41,290,936 (GRCm39)	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,071,738 (GRCm39)	I186T	probably damaging	Het
Pnkd	G	A	1: 74,388,564 (GRCm39)		probably null	Het
Poc1a	A	G	9: 106,226,908 (GRCm39)	T334A	probably damaging	Het
Pou2f2	T	A	7: 24,797,111 (GRCm39)	K211*	probably null	Het
Rdh13	T	C	7: 4,445,652 (GRCm39)	E94G	probably benign	Het
Rnf186	A	G	4: 138,694,498 (GRCm39)	S13G	probably benign	Het
Ryr2	T	C	13: 11,670,584 (GRCm39)	R3471G	probably damaging	Het
Sbf2	T	C	7: 109,971,742 (GRCm39)	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,316,403 (GRCm39)		probably benign	Het
Shoc1	T	C	4: 59,082,404 (GRCm39)	N408S	probably benign	Het
Snn	T	C	16: 10,890,397 (GRCm39)	V72A	probably benign	Het
Sys1	T	A	2: 164,306,344 (GRCm39)	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,412,931 (GRCm39)	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,396,311 (GRCm39)	L550Q	probably damaging	Het
Tent5b	T	C	4: 133,213,681 (GRCm39)	L184P	probably benign	Het
Thoc1	T	C	18: 9,993,438 (GRCm39)	I599T	probably damaging	Het
Tle3	C	T	9: 61,281,279 (GRCm39)		probably benign	Het
Tll1	A	C	8: 64,538,507 (GRCm39)	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,621 (GRCm39)	E78K	probably benign	Het
Tpgs2	A	G	18: 25,262,897 (GRCm39)		probably benign	Het
Trpm1	T	C	7: 63,858,054 (GRCm39)	L165P	probably damaging	Het
Trpm5	T	C	7: 142,633,956 (GRCm39)	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,570,551 (GRCm39)	S1201A	possibly damaging	Het
Ust	T	A	10: 8,121,705 (GRCm39)	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,647,249 (GRCm39)	F543L	probably benign	Het
Yeats2	T	A	16: 19,971,645 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,745 (GRCm39)	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het
Znrf3	A	T	11: 5,237,420 (GRCm39)	C134S	probably benign	Het

Other mutations in Krt19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02999:Krt19	APN	11	100,032,235 (GRCm39)	splice site	probably benign
R0755:Krt19	UTSW	11	100,032,965 (GRCm39)	missense	possibly damaging	0.87
R2226:Krt19	UTSW	11	100,032,401 (GRCm39)	missense	probably damaging	1.00
R2416:Krt19	UTSW	11	100,036,433 (GRCm39)	missense	probably benign
R7764:Krt19	UTSW	11	100,032,218 (GRCm39)	missense	probably benign	0.07
R8026:Krt19	UTSW	11	100,032,209 (GRCm39)	missense	probably damaging	0.99
R8669:Krt19	UTSW	11	100,031,993 (GRCm39)	missense	probably damaging	1.00
R8919:Krt19	UTSW	11	100,031,980 (GRCm39)	missense	probably damaging	1.00
R8952:Krt19	UTSW	11	100,031,768 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGACAGCTGGACTCCATAACG -3'
(R):5'- ACCTACCTTGCTCGGGTATG -3'

Sequencing Primer
(F):5'- CTTCCAGGGCAGCTTTCTGAG -3'
(R):5'- CTACCTTGCTCGGGTATGCAGAG -3'

Posted On

2016-02-04