Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Krt24'

263990

Institutional Source

Beutler Lab

Gene Symbol

Krt24

Ensembl Gene

ENSMUSG00000020913

Gene Name

keratin 24

Synonyms

2310058N18Rik, 2310075C18Rik

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

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

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99170785-99176088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99173262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 298 (T298S)

Ref Sequence

ENSEMBL: ENSMUSP00000017255 (fasta)

Gene Model

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

AlphaFold

A1L317

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017255
AA Change: T298S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017255
Gene: ENSMUSG00000020913
AA Change: T298S

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

Meta Mutation Damage Score

0.1090

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Espl1	T	A	15: 102,231,639 (GRCm39)	F1945Y	possibly damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Irs3	A	G	5: 137,642,118 (GRCm39)	L440P	probably benign	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Mynn	C	T	3: 30,661,959 (GRCm39)	T347M	probably damaging	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	Het
Zscan22	T	C	7: 12,641,217 (GRCm39)	I328T	probably benign	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
R0561:Krt24	UTSW	11	99,175,439 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAGGGATGCACTCTAAATGG -3'
(R):5'- AGGCATTTTCCACCACATCC -3'

Sequencing Primer
(F):5'- ATAGAGCACAGTTAGTTGTCCTAGGC -3'
(R):5'- CAATGGTAACCAGTTCTCCTCCAGG -3'

Posted On

2015-02-05