Mutagenetix > Incidental Mutation

Incidental Mutation 'R7294:Krt15'

566634

Institutional Source

Beutler Lab

Gene Symbol

Krt15

Ensembl Gene

ENSMUSG00000054146

Gene Name

keratin 15

Synonyms

Krt1-15, K15

MMRRC Submission

045399-MU

Accession Numbers

Essential gene?

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

Stock #

R7294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100022584-100026754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100022848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 456 (I456F)

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: I456F

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103034
Gene: ENSMUSG00000054146
AA Change: I456F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (49/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,650,541 (GRCm39)	Y1216*	probably null	Het
Abca17	G	A	17: 24,539,983 (GRCm39)	T415M	not run	Het
Adam1a	G	T	5: 121,658,068 (GRCm39)	C408*	probably null	Het
Adamts9	G	A	6: 92,871,270 (GRCm39)	T603M	probably damaging	Het
Amdhd1	T	C	10: 93,370,301 (GRCm39)	E179G	probably benign	Het
Bcan	T	C	3: 87,902,831 (GRCm39)	T316A	possibly damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C5ar1	T	C	7: 15,982,950 (GRCm39)	I23M	probably benign	Het
Cd109	A	T	9: 78,619,917 (GRCm39)	E1386D	probably damaging	Het
Cdcp1	C	T	9: 123,006,986 (GRCm39)	C587Y	probably benign	Het
Cdh22	A	C	2: 164,984,013 (GRCm39)	V413G	possibly damaging	Het
Cfap44	A	G	16: 44,225,256 (GRCm39)		probably benign	Het
Col2a1	A	G	15: 97,885,168 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,756,005 (GRCm39)	Y95N	probably damaging	Het
Dusp13b	A	G	14: 21,783,782 (GRCm39)	S178P	possibly damaging	Het
Fhod3	A	G	18: 25,266,037 (GRCm39)	E1575G	probably damaging	Het
Gfpt2	C	T	11: 49,709,435 (GRCm39)	R209*	probably null	Het
Heg1	T	C	16: 33,546,859 (GRCm39)	S573P	probably damaging	Het
Hinfp	A	G	9: 44,210,567 (GRCm39)	C152R	probably damaging	Het
Hmgcs2	C	T	3: 98,198,211 (GRCm39)	T38I	probably benign	Het
Jakmip1	T	C	5: 37,274,804 (GRCm39)	F441L	possibly damaging	Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kpna4	A	C	3: 68,999,956 (GRCm39)		probably null	Het
Leprotl1	A	T	8: 34,606,006 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,835 (GRCm39)	T42S	possibly damaging	Het
Naa80	T	G	9: 107,460,182 (GRCm39)	F26V	possibly damaging	Het
Nr1h5	T	C	3: 102,852,578 (GRCm39)	T419A	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or4c12	A	C	2: 89,774,068 (GRCm39)	Y130*	probably null	Het
Or52b3	T	A	7: 102,204,160 (GRCm39)	I223N	probably damaging	Het
Pax6	T	A	2: 105,515,246 (GRCm39)	C66*	probably null	Het
Pde10a	A	T	17: 8,975,853 (GRCm39)	N53Y	probably benign	Het
Pdgfra	A	G	5: 75,342,312 (GRCm39)	N711S	probably benign	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Slc26a1	G	T	5: 108,821,698 (GRCm39)	R80S	possibly damaging	Het
Slc2a4	T	C	11: 69,836,225 (GRCm39)	D262G	probably benign	Het
Specc1	T	A	11: 62,009,163 (GRCm39)	S226R	probably benign	Het
Srsf4	A	G	4: 131,627,772 (GRCm39)	S289G	unknown	Het
Stil	T	C	4: 114,864,480 (GRCm39)	V127A	probably benign	Het
Syne1	A	T	10: 5,047,483 (GRCm39)		probably null	Het
Tbc1d22a	T	A	15: 86,196,036 (GRCm39)	Y336N	possibly damaging	Het
Tbc1d8	C	T	1: 39,445,843 (GRCm39)	G116E	probably damaging	Het
Thrb	A	G	14: 17,826,963 (GRCm38)		probably benign	Het
Timd5	T	A	11: 46,426,439 (GRCm39)	I182K	probably benign	Het
Tln1	G	T	4: 43,534,399 (GRCm39)	H2253Q	probably benign	Het
Tmem131	A	C	1: 36,893,928 (GRCm39)	N158K	possibly damaging	Het
Toporsl	A	C	4: 52,611,903 (GRCm39)	T599P	probably benign	Het
Tpr	C	T	1: 150,279,638 (GRCm39)	R256C	probably damaging	Het
Triobp	C	T	15: 78,858,176 (GRCm39)	A1259V	probably damaging	Het
Zfp40	A	G	17: 23,395,411 (GRCm39)	I392T	possibly damaging	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
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'- TGAAGGAACAGCCGCCATAC -3'
(R):5'- CTAAGTCAGCTTCTGGAGGTC -3'

Sequencing Primer
(F):5'- GCCGCCATACAAAGATCTATTGCTTC -3'
(R):5'- TTCTGGAGGTCCCCCAGG -3'

Posted On

2019-06-26