Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Krt15'

573317

Institutional Source

Beutler Lab

Gene Symbol

Krt15

Ensembl Gene

ENSMUSG00000054146

Gene Name

keratin 15

Synonyms

Krt1-15, K15

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100022584-100026754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100026386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 100 (V100E)

Ref Sequence

ENSEMBL: ENSMUSP00000103034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107411]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107411
AA Change: V100E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103034
Gene: ENSMUSG00000054146
AA Change: V100E

Domain	Start	End	E-Value	Type
low complexity region	3	96	N/A	INTRINSIC
Filament	97	409	5.06e-173	SMART
low complexity region	421	434	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired esophageal epithelial regeneration with thicker epithelia due to enhanced basal cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Or5v1b	A	G	17: 37,841,548 (GRCm39)	R227G	possibly damaging	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	Het

Other mutations in Krt15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02194:Krt15	APN	11	100,022,839 (GRCm39)	utr 3 prime	probably benign
IGL02304:Krt15	APN	11	100,024,503 (GRCm39)	missense	possibly damaging	0.79
R0361:Krt15	UTSW	11	100,024,007 (GRCm39)	missense	probably benign	0.13
R1562:Krt15	UTSW	11	100,024,007 (GRCm39)	missense	probably benign	0.13
R2113:Krt15	UTSW	11	100,026,484 (GRCm39)	missense	unknown
R4858:Krt15	UTSW	11	100,022,897 (GRCm39)	missense	probably benign	0.00
R5185:Krt15	UTSW	11	100,024,259 (GRCm39)	missense	probably damaging	1.00
R6967:Krt15	UTSW	11	100,025,339 (GRCm39)	missense	probably damaging	0.98
R7294:Krt15	UTSW	11	100,022,848 (GRCm39)	missense	possibly damaging	0.71
R7371:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7372:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7390:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7391:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7392:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7420:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7421:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7423:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R7424:Krt15	UTSW	11	100,026,386 (GRCm39)	missense	possibly damaging	0.79
R9405:Krt15	UTSW	11	100,022,961 (GRCm39)	missense	probably benign	0.37
X0025:Krt15	UTSW	11	100,026,343 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTACTGAACACGAGCCACC -3'
(R):5'- GAAGCCGAAGTATCTCTGCTTCTTC -3'

Sequencing Primer
(F):5'- GACAGACTTACTTTGTCCCGG -3'
(R):5'- GAAGTATCTCTGCTTCTTCTGCTAGG -3'

Posted On

2019-09-13