Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Krt15'

575940

Institutional Source

Beutler Lab

Gene Symbol

Krt15

Ensembl Gene

ENSMUSG00000054146

Gene Name

keratin 15

Synonyms

Krt1-15, K15

MMRRC Submission

045502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7424 (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: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,284 (GRCm39)	R71C	probably damaging	Het
Aanat	A	T	11: 116,486,455 (GRCm39)		probably benign	Het
Ahrr	G	T	13: 74,405,664 (GRCm39)	S91*	probably null	Het
Ampd1	A	T	3: 102,995,758 (GRCm39)	N223Y	probably benign	Het
Ankar	T	G	1: 72,719,217 (GRCm39)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,330,050 (GRCm39)	S302P	possibly damaging	Het
Bcr	T	C	10: 74,992,932 (GRCm39)	V809A	probably benign	Het
Bpifb2	A	G	2: 153,732,460 (GRCm39)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,074,835 (GRCm39)		probably null	Het
Ddx5	A	T	11: 106,673,006 (GRCm39)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm39)	I239F	probably benign	Het
Ethe1	C	T	7: 24,305,676 (GRCm39)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,831,447 (GRCm39)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,109,382 (GRCm39)	I36F	unknown	Het
Gm13030	A	T	4: 138,598,577 (GRCm39)	D115E	unknown	Het
Gm17019	A	T	5: 15,079,386 (GRCm39)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,673,217 (GRCm39)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,615,354 (GRCm39)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,506,017 (GRCm39)	W3836*	probably null	Het
Hspa14	C	T	2: 3,490,078 (GRCm39)	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,550,598 (GRCm39)	N46S	probably benign	Het
Ifna6	A	T	4: 88,746,044 (GRCm39)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,256,010 (GRCm39)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,131,653 (GRCm39)	N388S	probably damaging	Het
Itgal	T	A	7: 126,916,537 (GRCm39)	V743E	probably benign	Het
Itih5	T	C	2: 10,250,448 (GRCm39)	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,173,924 (GRCm39)	K78N	possibly damaging	Het
Kif1a	A	T	1: 92,982,039 (GRCm39)	V787E	possibly damaging	Het
Krt39	A	T	11: 99,408,917 (GRCm39)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,711,663 (GRCm39)	F720S	possibly damaging	Het
Map2	G	A	1: 66,453,983 (GRCm39)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,770,871 (GRCm39)	S906P	probably benign	Het
Mdc1	T	C	17: 36,164,201 (GRCm39)	S1250P	probably benign	Het
Meltf	G	A	16: 31,703,764 (GRCm39)	V164I	probably damaging	Het
Mtap	T	G	4: 89,097,699 (GRCm39)		probably null	Het
Mtus1	C	A	8: 41,475,443 (GRCm39)	V184F	probably damaging	Het
Myh1	A	T	11: 67,104,489 (GRCm39)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,816,787 (GRCm39)		probably null	Het
Nkd1	G	T	8: 89,311,803 (GRCm39)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,342,673 (GRCm39)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,431,391 (GRCm39)		probably null	Het
Nucb1	T	C	7: 45,148,202 (GRCm39)	K204E	possibly damaging	Het
Nwd1	T	G	8: 73,401,801 (GRCm39)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,225,944 (GRCm39)	V274E	probably damaging	Het
Or52u1	G	C	7: 104,237,907 (GRCm39)	E299Q	probably damaging	Het
Or5an1c	A	T	19: 12,218,318 (GRCm39)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,473,082 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,342,317 (GRCm39)	T1135S	probably benign	Het
Pfas	A	G	11: 68,890,918 (GRCm39)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,488,647 (GRCm39)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,579,779 (GRCm39)	P455S	probably benign	Het
Ptar1	A	T	19: 23,695,465 (GRCm39)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,315,016 (GRCm39)	M1912R	probably damaging	Het
Rbm12	A	G	2: 155,939,223 (GRCm39)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,021,468 (GRCm39)	D96G	probably benign	Het
Serpinb6b	T	A	13: 33,152,650 (GRCm39)	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,494,147 (GRCm39)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,088,445 (GRCm39)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
St8sia2	T	A	7: 73,610,650 (GRCm39)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,468,822 (GRCm39)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,783,247 (GRCm39)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 51,928,228 (GRCm39)	E14G	probably benign	Het
Trip11	A	T	12: 101,851,457 (GRCm39)	L869H	probably damaging	Het
Tslp	T	C	18: 32,952,133 (GRCm39)	Y133H	not run	Het
Ttn	T	C	2: 76,571,334 (GRCm39)	I26520V	probably damaging	Het
Ttn	A	G	2: 76,762,487 (GRCm39)	V3374A	unknown	Het
Tubgcp2	T	A	7: 139,587,837 (GRCm39)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,777,392 (GRCm39)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm39)	T1021I	unknown	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Usp24	C	A	4: 106,236,304 (GRCm39)	D997E	probably benign	Het
Usp54	T	C	14: 20,627,108 (GRCm39)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,198,505 (GRCm39)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,328 (GRCm39)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,213,076 (GRCm39)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,254,849 (GRCm39)	P612T	probably damaging	Het
Vps13d	A	T	4: 144,875,317 (GRCm39)	V1736D		Het
Zbtb11	A	T	16: 55,810,850 (GRCm39)	H336L	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
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
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
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'- TGTACTGAACACGAGCCAC -3'
(R):5'- AGCCGAAGTATCTCTGCTTC -3'

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

Posted On

2019-10-07