Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Krt27'

530724

Institutional Source

Beutler Lab

Gene Symbol

Krt27

Ensembl Gene

ENSMUSG00000017588

Gene Name

keratin 27

Synonyms

Krt1-c29, mIRSa3.1, stpm

MMRRC Submission

044867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6750 (G1)

Quality Score

214.009

Status

Validated

Chromosome

Chromosomal Location

99236391-99241930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99239806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 253 (E253K)

Ref Sequence

ENSEMBL: ENSMUSP00000017732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017732]

AlphaFold

Q9Z320

Predicted Effect

probably damaging
Transcript: ENSMUST00000017732
AA Change: E253K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017732
Gene: ENSMUSG00000017588
AA Change: E253K

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
low complexity region	36	61	N/A	INTRINSIC
Filament	73	388	6.3e-151	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The mouse type I keratin genes are clustered in a region of chromosome 11. The encoded protein is involved in the formation of intermediate filaments in the inner root sheath. [provided by RefSeq, Sep 2015]
PHENOTYPE: Newborn heterozygotes show a slight bending of the whiskers. At ~P12, the coat develops a loose wave pattern. Whiskers of homozygotes are more curly and irregular while coat waviness occurs earlier and is more prominent. Adult coats are not waved but remains rough in texture. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Akap13	C	T	7: 75,389,206 (GRCm39)	P2375S	probably benign	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	possibly damaging	Het

Other mutations in Krt27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01970:Krt27	APN	11	99,239,547 (GRCm39)	missense	probably damaging	0.98
R1957:Krt27	UTSW	11	99,237,309 (GRCm39)	critical splice donor site	probably null
R2014:Krt27	UTSW	11	99,240,318 (GRCm39)	missense	probably benign	0.09
R4095:Krt27	UTSW	11	99,236,619 (GRCm39)	missense	probably benign	0.00
R4768:Krt27	UTSW	11	99,240,351 (GRCm39)	missense	probably damaging	1.00
R4975:Krt27	UTSW	11	99,237,722 (GRCm39)	nonsense	probably null
R5236:Krt27	UTSW	11	99,241,641 (GRCm39)	missense	possibly damaging	0.87
R7044:Krt27	UTSW	11	99,237,640 (GRCm39)	missense	probably benign	0.35
R7658:Krt27	UTSW	11	99,240,312 (GRCm39)	missense	possibly damaging	0.69
R8308:Krt27	UTSW	11	99,239,862 (GRCm39)	missense	probably benign	0.39
R8937:Krt27	UTSW	11	99,239,551 (GRCm39)	missense	probably damaging	1.00
R9488:Krt27	UTSW	11	99,239,535 (GRCm39)	critical splice donor site	probably null
Z1176:Krt27	UTSW	11	99,239,804 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGAGAGTCCGTTTCATCTCTG -3'
(R):5'- GCCTTATAGATCCTGTCCACTTGG -3'

Sequencing Primer
(F):5'- GGCTCCAGCATCGTCTGAAATC -3'
(R):5'- TGGCTTCCTTACAAACAGTCAG -3'

Posted On

2018-08-01