Mutagenetix > Incidental Mutation

Incidental Mutation 'R1562:Krt15'

170698

Institutional Source

Beutler Lab

Gene Symbol

Krt15

Ensembl Gene

ENSMUSG00000054146

Gene Name

keratin 15

Synonyms

Krt1-15, K15

MMRRC Submission

039601-MU

Accession Numbers

Essential gene?

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

Stock #

R1562 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

100022584-100026754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100024007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 346 (V346L)

Ref Sequence

ENSEMBL: ENSMUSP00000103034 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107411
AA Change: V346L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103034
Gene: ENSMUSG00000054146
AA Change: V346L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148502

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,331 (GRCm39)	I2201V	probably benign	Het
Adam22	T	C	5: 8,145,007 (GRCm39)	N817S	probably damaging	Het
Alox12	C	A	11: 70,140,991 (GRCm39)	R348L	probably damaging	Het
Asb17	A	T	3: 153,559,143 (GRCm39)	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733 (GRCm39)	S182P	possibly damaging	Het
Cenpe	T	C	3: 134,944,155 (GRCm39)	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,277,169 (GRCm39)	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917 (GRCm39)	I126V	probably benign	Het
Cubn	T	C	2: 13,432,778 (GRCm39)	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,258,179 (GRCm39)	L147Q	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fat2	T	C	11: 55,200,800 (GRCm39)	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,162 (GRCm39)	D15G	probably damaging	Het
Flt3	T	C	5: 147,281,323 (GRCm39)	E803G	probably damaging	Het
Folr1	T	G	7: 101,507,801 (GRCm39)	D213A	probably damaging	Het
Fus	T	C	7: 127,579,094 (GRCm39)	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,415,262 (GRCm39)	R111*	probably null	Het
Gm17324	T	C	9: 78,355,964 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,848 (GRCm39)		probably null	Het
Ifi27l2b	T	A	12: 103,422,780 (GRCm39)		probably null	Het
Isg20	G	T	7: 78,569,891 (GRCm39)	C176F	probably benign	Het
Katnip	C	A	7: 125,442,020 (GRCm39)	S643Y	probably damaging	Het
Liat1	A	T	11: 75,894,024 (GRCm39)	I134F	probably damaging	Het
Med13l	A	G	5: 118,876,584 (GRCm39)	K920R	probably damaging	Het
Mlh3	A	T	12: 85,313,694 (GRCm39)	F831I	probably benign	Het
Mtmr9	A	G	14: 63,771,786 (GRCm39)	S267P	probably benign	Het
Mybpc1	C	T	10: 88,389,193 (GRCm39)	A406T	probably damaging	Het
Myh1	T	C	11: 67,102,196 (GRCm39)	M829T	probably benign	Het
Myo10	A	G	15: 25,780,497 (GRCm39)	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,293,701 (GRCm39)	V153D	probably damaging	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or1j19	A	G	2: 36,676,696 (GRCm39)	D53G	probably damaging	Het
Or2ag1b	C	T	7: 106,288,187 (GRCm39)	M250I	probably benign	Het
Or4c103	T	A	2: 88,513,423 (GRCm39)	I218F	probably benign	Het
Or8c20	C	A	9: 38,260,658 (GRCm39)	S87*	probably null	Het
Pcnt	G	A	10: 76,203,164 (GRCm39)	T2646M	probably benign	Het
Phf10	A	T	17: 15,166,512 (GRCm39)	C453S	probably damaging	Het
Plcb4	T	A	2: 135,812,367 (GRCm39)		probably null	Het
Plekhh1	A	G	12: 79,123,482 (GRCm39)	H1185R	probably benign	Het
Prmt3	G	T	7: 49,476,602 (GRCm39)	V404L	probably benign	Het
Ptprb	T	A	10: 116,175,372 (GRCm39)	D1122E	probably benign	Het
Rars1	A	G	11: 35,711,921 (GRCm39)		probably null	Het
Rasa2	G	T	9: 96,427,803 (GRCm39)	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,393,423 (GRCm39)	T40A	probably damaging	Het
Rem2	T	C	14: 54,713,775 (GRCm39)	V16A	probably benign	Het
Rlf	A	T	4: 121,007,588 (GRCm39)	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,592,098 (GRCm39)	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,176,048 (GRCm39)	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,304,130 (GRCm39)	S278P	probably benign	Het
Strn3	T	C	12: 51,680,401 (GRCm39)	T400A	probably benign	Het
Sycp2	A	T	2: 178,024,178 (GRCm39)	I402N	probably damaging	Het
Synj1	C	T	16: 90,784,290 (GRCm39)	V283I	probably benign	Het
Tas2r108	A	G	6: 40,471,000 (GRCm39)		probably null	Het
Ttpal	A	G	2: 163,457,323 (GRCm39)	N265S	probably benign	Het
Unc80	G	A	1: 66,677,116 (GRCm39)	G2015D	probably damaging	Het
Upf1	C	T	8: 70,796,017 (GRCm39)	W138*	probably null	Het
Vmn1r25	T	G	6: 57,955,786 (GRCm39)	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,510,301 (GRCm39)	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,296,865 (GRCm39)	T640N	probably damaging	Het
Wdr75	T	A	1: 45,843,030 (GRCm39)		probably null	Het
Zdbf2	T	G	1: 63,342,747 (GRCm39)	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,080,138 (GRCm39)	Q99R	probably benign	Het
Zfp964	C	T	8: 70,115,654 (GRCm39)	P85S	probably benign	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
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
R7389: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'- ACTCAACAACACAGCTCGTGGAATG -3'
(R):5'- TGGCTTATTGGGCAACACATGGAC -3'

Sequencing Primer
(F):5'- GGATGCCAACCCATTTGC -3'
(R):5'- GCAACACATGGACCCACTG -3'

Posted On

2014-04-13