Mutagenetix > Incidental Mutation

Incidental Mutation 'R0561:Krt24'

45889

Institutional Source

Beutler Lab

Gene Symbol

Krt24

Ensembl Gene

ENSMUSG00000020913

Gene Name

keratin 24

Synonyms

2310058N18Rik, 2310075C18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99170785-99176088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99175439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 199 (E199K)

Ref Sequence

ENSEMBL: ENSMUSP00000017255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017255]

AlphaFold

A1L317

Predicted Effect

probably damaging
Transcript: ENSMUST00000017255
AA Change: E199K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017255
Gene: ENSMUSG00000020913
AA Change: E199K

Domain	Start	End	E-Value	Type
Filament	140	456	5.23e-157	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,335,204 (GRCm39)	D30G	possibly damaging	Het
Apc	A	T	18: 34,446,356 (GRCm39)	H1050L	possibly damaging	Het
Armc2	A	G	10: 41,869,188 (GRCm39)	V166A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,793 (GRCm39)	I173F	probably damaging	Het
Bpifb4	A	G	2: 153,786,742 (GRCm39)	D298G	probably damaging	Het
C4b	T	A	17: 34,953,391 (GRCm39)	S1031C	probably damaging	Het
Calcr	A	G	6: 3,692,630 (GRCm39)	I408T	probably damaging	Het
Catsperg1	T	C	7: 28,881,737 (GRCm39)	N1009S	probably damaging	Het
Ces2a	T	C	8: 105,464,165 (GRCm39)	S266P	probably benign	Het
Chrna1	A	G	2: 73,396,596 (GRCm39)	V433A	possibly damaging	Het
Ctnnb1	G	A	9: 120,780,788 (GRCm39)	V291M	probably damaging	Het
Dcbld1	T	C	10: 52,138,032 (GRCm39)	Y99H	probably benign	Het
Ddx60	A	T	8: 62,470,828 (GRCm39)	H1440L	possibly damaging	Het
Dsg1c	A	T	18: 20,407,832 (GRCm39)	I393L	probably benign	Het
Eif5	G	T	12: 111,506,950 (GRCm39)	R128L	probably benign	Het
Ercc3	A	G	18: 32,378,592 (GRCm39)	D191G	possibly damaging	Het
Gp1ba	A	T	11: 70,530,416 (GRCm39)		probably benign	Het
Lrif1	G	T	3: 106,639,481 (GRCm39)	A164S	probably damaging	Het
Map2	A	G	1: 66,464,656 (GRCm39)	D1682G	probably damaging	Het
Megf8	C	T	7: 25,028,257 (GRCm39)	P274S	probably benign	Het
Mslnl	C	T	17: 25,962,177 (GRCm39)	Q192*	probably null	Het
Nfkb2	T	C	19: 46,298,301 (GRCm39)	V535A	possibly damaging	Het
Or10q1	A	T	19: 13,726,662 (GRCm39)	Y64F	probably damaging	Het
Or4a66	A	G	2: 88,530,914 (GRCm39)	I253T	possibly damaging	Het
Or4c11	T	A	2: 88,695,024 (GRCm39)	V25E	possibly damaging	Het
Or7a37	T	A	10: 78,805,729 (GRCm39)	L82*	probably null	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8g22	C	T	9: 38,958,669 (GRCm39)	M15I	probably damaging	Het
Pag1	T	A	3: 9,764,481 (GRCm39)	Y224F	probably damaging	Het
Pbrm1	A	C	14: 30,757,948 (GRCm39)	I193L	probably benign	Het
Phrf1	T	C	7: 140,834,876 (GRCm39)	V17A	probably benign	Het
Plekhg2	T	G	7: 28,069,908 (GRCm39)	T42P	probably benign	Het
Pmp22	T	A	11: 63,025,250 (GRCm39)	W28R	probably damaging	Het
Ppp1r13b	A	T	12: 111,832,880 (GRCm39)	H82Q	probably damaging	Het
Rgs8	T	C	1: 153,541,668 (GRCm39)		probably null	Het
Rtl1	A	G	12: 109,560,363 (GRCm39)	V492A	probably damaging	Het
Slc22a27	A	G	19: 7,857,527 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,090 (GRCm39)	E79G	probably null	Het
Syde1	C	T	10: 78,425,210 (GRCm39)	R267H	probably damaging	Het
Tas2r114	A	G	6: 131,666,758 (GRCm39)	I90T	probably benign	Het
Tjp3	C	T	10: 81,109,674 (GRCm39)	G843D	probably benign	Het
Tln1	A	T	4: 43,550,304 (GRCm39)	M453K	possibly damaging	Het
Ttc39a	A	T	4: 109,297,799 (GRCm39)	Y408F	probably damaging	Het
Usp39	T	G	6: 72,313,368 (GRCm39)	Q274P	probably damaging	Het
Uvrag	C	T	7: 98,537,768 (GRCm39)	V476I	probably damaging	Het
Vcan	T	A	13: 89,860,372 (GRCm39)	T332S	probably damaging	Het
Vcan	T	A	13: 89,879,583 (GRCm39)	H22L	possibly damaging	Het
Wls	A	G	3: 159,578,705 (GRCm39)	D89G	probably benign	Het
Zfhx2	A	T	14: 55,303,346 (GRCm39)	V1546E	probably benign	Het
Zfp457	T	A	13: 67,442,134 (GRCm39)	H147L	probably damaging	Het

Other mutations in Krt24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Krt24	APN	11	99,176,030 (GRCm39)	missense	unknown
R0128:Krt24	UTSW	11	99,171,093 (GRCm39)	missense	probably damaging	0.98
R1668:Krt24	UTSW	11	99,175,444 (GRCm39)	missense	probably benign	0.16
R2018:Krt24	UTSW	11	99,173,277 (GRCm39)	missense	probably damaging	1.00
R2307:Krt24	UTSW	11	99,175,456 (GRCm39)	missense	possibly damaging	0.48
R3114:Krt24	UTSW	11	99,173,262 (GRCm39)	missense	possibly damaging	0.85
R3115:Krt24	UTSW	11	99,173,262 (GRCm39)	missense	possibly damaging	0.85
R3116:Krt24	UTSW	11	99,173,262 (GRCm39)	missense	possibly damaging	0.85
R3979:Krt24	UTSW	11	99,173,596 (GRCm39)	missense	probably benign	0.23
R4805:Krt24	UTSW	11	99,174,452 (GRCm39)	missense	possibly damaging	0.53
R5347:Krt24	UTSW	11	99,173,556 (GRCm39)	missense	probably damaging	1.00
R5858:Krt24	UTSW	11	99,175,591 (GRCm39)	missense	probably damaging	1.00
R8369:Krt24	UTSW	11	99,173,534 (GRCm39)	nonsense	probably null
R9587:Krt24	UTSW	11	99,174,453 (GRCm39)	missense	probably damaging	1.00
X0028:Krt24	UTSW	11	99,171,859 (GRCm39)	nonsense	probably null
Z1176:Krt24	UTSW	11	99,175,712 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TACAGCAGGACCCATTTCGCAC -3'
(R):5'- ATGCAAGACCTCAATGACCGGC -3'

Sequencing Primer
(F):5'- acttgctatgtctaatgccctg -3'
(R):5'- CTAGCCAACTACCTAGACAAAGTC -3'

Posted On

2013-06-11