Mutagenetix > Incidental Mutation

Incidental Mutation 'R9468:Krt5'

715304

Institutional Source

Beutler Lab

Gene Symbol

Krt5

Ensembl Gene

ENSMUSG00000061527

Gene Name

keratin 5

Synonyms

Tfip8, Krt2-5, 3300001P10Rik, K5

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9468 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101615505-101621333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101615980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 545 (S545I)

Ref Sequence

ENSEMBL: ENSMUSP00000023709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023709]

AlphaFold

Q922U2

Predicted Effect

unknown
Transcript: ENSMUST00000023709
AA Change: S545I

SMART Domains

Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: S545I

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	158	3.6e-44	PFAM
Filament	161	474	1.58e-174	SMART
low complexity region	483	577	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,784,736 (GRCm39)	N68Y	probably damaging	Het
Acsf3	A	T	8: 123,539,769 (GRCm39)	I466F	probably damaging	Het
Akr1b7	T	C	6: 34,392,316 (GRCm39)	I43T	probably benign	Het
Alyref	T	A	11: 120,486,790 (GRCm39)	D157V	probably damaging	Het
Anapc2	T	C	2: 25,163,132 (GRCm39)	L123P	possibly damaging	Het
Catsperg2	A	T	7: 29,409,432 (GRCm39)		probably null	Het
Ccz1	G	T	5: 143,929,438 (GRCm39)	T330K	probably benign	Het
Chordc1	T	A	9: 18,213,425 (GRCm39)	F92Y	probably benign	Het
Cyp2c29	A	T	19: 39,296,166 (GRCm39)	D199V	probably benign	Het
Cyp2c70	A	G	19: 40,168,889 (GRCm39)	S133P	probably damaging	Het
Dync1li2	G	A	8: 105,147,258 (GRCm39)	P479S	probably benign	Het
Fcmr	G	T	1: 130,801,951 (GRCm39)	K68N	possibly damaging	Het
Frmpd2	T	A	14: 33,266,432 (GRCm39)	D949E	possibly damaging	Het
Fscn2	A	G	11: 120,253,283 (GRCm39)	E250G	probably damaging	Het
Grk2	A	T	19: 4,344,952 (GRCm39)	I39N	probably damaging	Het
Hmmr	T	A	11: 40,614,314 (GRCm39)	R125*	probably null	Het
Jarid2	T	A	13: 45,073,306 (GRCm39)	C1195S	probably damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif24	A	T	4: 41,404,794 (GRCm39)	I402N	probably damaging	Het
Kmt2b	A	G	7: 30,284,513 (GRCm39)	V793A	probably damaging	Het
Kntc1	T	C	5: 123,954,776 (GRCm39)	Y2065H	probably damaging	Het
Larp1b	A	T	3: 40,930,990 (GRCm39)	I290L	probably benign	Het
Lnx2	C	T	5: 146,979,289 (GRCm39)		probably benign	Het
Lonrf2	A	G	1: 38,839,839 (GRCm39)	S419P	probably damaging	Het
Lrrc19	A	T	4: 94,526,521 (GRCm39)	D345E	probably benign	Het
Micu3	T	A	8: 40,807,422 (GRCm39)	L251*	probably null	Het
Mucl1	G	T	15: 103,784,035 (GRCm39)	T57N	possibly damaging	Het
Myh8	C	T	11: 67,197,730 (GRCm39)	R1866W	probably damaging	Het
Ndc80	G	A	17: 71,806,306 (GRCm39)	Q583*	probably null	Het
Nrap	G	A	19: 56,330,632 (GRCm39)	T1143I	possibly damaging	Het
Nrde2	A	G	12: 100,106,268 (GRCm39)	V523A	probably benign	Het
Or12e9	T	A	2: 87,202,116 (GRCm39)	V80E	probably damaging	Het
Or2at4	A	T	7: 99,385,180 (GRCm39)	I277F	possibly damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or5p70	C	T	7: 107,994,849 (GRCm39)	P174L	possibly damaging	Het
Pcdhb16	T	A	18: 37,611,482 (GRCm39)	S147R	probably damaging	Het
Phf21b	T	C	15: 84,689,299 (GRCm39)	T76A	probably damaging	Het
Pknox2	A	G	9: 36,822,495 (GRCm39)	V218A	probably benign	Het
Plekhg3	C	T	12: 76,607,009 (GRCm39)	T23I	probably damaging	Het
Ptprb	A	G	10: 116,113,274 (GRCm39)	T85A	probably benign	Het
Ptprc	A	G	1: 138,044,754 (GRCm39)	L36P	probably benign	Het
Rasgrf1	A	G	9: 89,880,756 (GRCm39)	Q834R	probably benign	Het
Rnft1	G	A	11: 86,381,242 (GRCm39)	V211I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,772,510 (GRCm39)	L2468F	probably damaging	Het
Scaf4	C	T	16: 90,026,287 (GRCm39)	A1177T	unknown	Het
Sec14l3	A	G	11: 4,025,200 (GRCm39)	Y270C	probably damaging	Het
Serpind1	A	T	16: 17,154,179 (GRCm39)	K2I	possibly damaging	Het
Slc6a20b	A	G	9: 123,439,416 (GRCm39)	S138P	probably damaging	Het
Son	T	A	16: 91,454,439 (GRCm39)	M1062K	possibly damaging	Het
Sorl1	T	C	9: 42,035,384 (GRCm39)	E9G	probably benign	Het
Spmip9	T	C	6: 70,890,627 (GRCm39)	Q55R	probably benign	Het
Stx16	T	C	2: 173,933,327 (GRCm39)	L102P	probably damaging	Het
Syt12	A	T	19: 4,497,744 (GRCm39)	S413T	probably damaging	Het
Tie1	A	G	4: 118,333,376 (GRCm39)	L830P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tnfrsf19	A	G	14: 61,261,623 (GRCm39)	S59P	possibly damaging	Het
Tpk1	T	C	6: 43,536,901 (GRCm39)	D54G	probably benign	Het
Trim39	G	T	17: 36,571,492 (GRCm39)	T422K	probably benign	Het
Ttn	T	G	2: 76,536,112 (GRCm39)	E35082A		Het
Vac14	T	A	8: 111,397,738 (GRCm39)	D484E	probably benign	Het
Vmn1r158	G	T	7: 22,489,888 (GRCm39)	T107N	probably damaging	Het
Vmn1r51	T	A	6: 90,106,930 (GRCm39)	I282N	probably damaging	Het
Vps26a	A	T	10: 62,300,516 (GRCm39)	Y217N	probably damaging	Het
Zfp942	G	A	17: 22,148,422 (GRCm39)	T69I	probably benign	Het
Zmym4	A	G	4: 126,800,993 (GRCm39)	S536P	probably benign	Het
Znrf3	A	G	11: 5,288,696 (GRCm39)	V24A	probably damaging	Het
Zranb3	A	G	1: 127,891,496 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,814,009 (GRCm39)		probably null	Het

Other mutations in Krt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Krt5	APN	15	101,621,076 (GRCm39)	missense	unknown
IGL01949:Krt5	APN	15	101,619,048 (GRCm39)	missense	probably benign	0.14
IGL03013:Krt5	APN	15	101,620,103 (GRCm39)	missense	probably benign	0.00
IGL03286:Krt5	APN	15	101,615,983 (GRCm39)	missense	unknown
R1598:Krt5	UTSW	15	101,620,876 (GRCm39)	missense	probably benign	0.38
R1697:Krt5	UTSW	15	101,619,020 (GRCm39)	missense	probably benign	0.06
R1967:Krt5	UTSW	15	101,620,094 (GRCm39)	missense	probably benign	0.21
R2143:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R2438:Krt5	UTSW	15	101,620,093 (GRCm39)	missense	probably benign	0.10
R4633:Krt5	UTSW	15	101,620,042 (GRCm39)	missense	probably damaging	0.98
R4771:Krt5	UTSW	15	101,617,494 (GRCm39)	missense	probably damaging	0.99
R4918:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R5622:Krt5	UTSW	15	101,617,470 (GRCm39)	missense	probably damaging	1.00
R6797:Krt5	UTSW	15	101,621,076 (GRCm39)	missense	unknown
R6873:Krt5	UTSW	15	101,621,312 (GRCm39)	start gained	probably benign
R7808:Krt5	UTSW	15	101,617,453 (GRCm39)	missense	probably benign	0.01
R8010:Krt5	UTSW	15	101,620,791 (GRCm39)	missense	probably damaging	1.00
R8252:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R8696:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R8889:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R8892:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R9578:Krt5	UTSW	15	101,620,153 (GRCm39)	missense	probably damaging	0.98
R9696:Krt5	UTSW	15	101,616,141 (GRCm39)	missense	unknown
X0019:Krt5	UTSW	15	101,620,803 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAAGAAGCAGTCTCTGTGGG -3'
(R):5'- TGGGCTAAATATGACAGTCCCAC -3'

Sequencing Primer
(F):5'- AGTCTCTGTGGGCCCGG -3'
(R):5'- ACAGCTGTCGTTACAAACAGTGTC -3'

Posted On

2022-06-15