Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Krt24'

722841

Institutional Source

Beutler Lab

Gene Symbol

Krt24

Ensembl Gene

ENSMUSG00000020913

Gene Name

keratin 24

Synonyms

2310058N18Rik, 2310075C18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R9587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99170785-99176088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99174453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 205 (I205F)

Ref Sequence

ENSEMBL: ENSMUSP00000017255 (fasta)

Gene Model

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

AlphaFold

A1L317

Predicted Effect

probably damaging
Transcript: ENSMUST00000017255
AA Change: I205F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017255
Gene: ENSMUSG00000020913
AA Change: I205F

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

Coding Region Coverage

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,119,149 (GRCm39)	L3552Q	probably damaging	Het
Atat1	T	C	17: 36,209,182 (GRCm39)	E353G	probably benign	Het
Banf2	A	G	2: 143,907,452 (GRCm39)	K42R	probably damaging	Het
Cabp7	T	A	11: 4,688,865 (GRCm39)	M202L	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Caprin2	A	G	6: 148,770,500 (GRCm39)	V498A	probably benign	Het
Cfap161	A	G	7: 83,440,878 (GRCm39)	F150L	probably damaging	Het
Cyb5r1	G	A	1: 134,335,387 (GRCm39)	G141R	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,999,217 (GRCm39)	Q974R	probably null	Het
Eps8l3	G	A	3: 107,798,683 (GRCm39)	R523Q	probably benign	Het
Ext1	T	C	15: 52,955,808 (GRCm39)	I430V	possibly damaging	Het
Gga3	T	C	11: 115,481,717 (GRCm39)	K202R	probably damaging	Het
Gm11567	T	C	11: 99,770,136 (GRCm39)	W25R	unknown	Het
Gpr3	G	A	4: 132,937,988 (GRCm39)	A228V	probably damaging	Het
Krt10	T	C	11: 99,277,420 (GRCm39)	D426G	possibly damaging	Het
Krt33a	T	C	11: 99,906,733 (GRCm39)	N81D	probably damaging	Het
Mapkbp1	T	C	2: 119,847,277 (GRCm39)	S505P	possibly damaging	Het
Matr3	A	G	18: 35,717,876 (GRCm39)	D696G	probably null	Het
Mov10	C	T	3: 104,711,899 (GRCm39)	G158S	probably benign	Het
Myh1	T	A	11: 67,102,196 (GRCm39)	M829K	probably benign	Het
Ncam2	T	C	16: 81,262,501 (GRCm39)	V318A	probably benign	Het
Ndufv3	A	G	17: 31,747,106 (GRCm39)	E332G	probably benign	Het
Ngdn	C	T	14: 55,254,578 (GRCm39)	T43M	probably benign	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Or2y17	C	T	11: 49,232,007 (GRCm39)	S216F	probably benign	Het
Or3a10	G	A	11: 73,935,360 (GRCm39)	H247Y	probably damaging	Het
Or5w17	A	T	2: 87,584,184 (GRCm39)	M51K	possibly damaging	Het
Or8u8	A	T	2: 86,011,564 (GRCm39)	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,567,601 (GRCm39)	A181V	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Rubcn	T	C	16: 32,663,679 (GRCm39)	D319G	probably damaging	Het
Sfswap	G	A	5: 129,618,427 (GRCm39)	D454N	probably benign	Het
Slc38a6	G	T	12: 73,388,513 (GRCm39)	K242N	probably benign	Het
Tmigd3	A	G	3: 105,824,088 (GRCm39)	D19G	probably damaging	Het
Trim36	T	C	18: 46,308,722 (GRCm39)	E380G	probably benign	Het
Ttn	T	A	2: 76,624,976 (GRCm39)	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,239,322 (GRCm39)	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,214,936 (GRCm39)	K306N	possibly damaging	Het
Wdfy4	A	T	14: 32,769,230 (GRCm39)	Y2232*	probably null	Het
Wdr53	A	G	16: 32,075,830 (GRCm39)	D345G	probably damaging	Het
Zfp26	G	A	9: 20,348,213 (GRCm39)	R784C	probably damaging	Het
Zfp58	A	T	13: 67,639,823 (GRCm39)	C223S	probably damaging	Het
Zfp618	A	G	4: 63,051,916 (GRCm39)	H899R		Het
Zfp963	A	G	8: 70,195,692 (GRCm39)	Y254H	probably benign	Het
Zfp994	T	C	17: 22,421,764 (GRCm39)	D17G	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
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
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
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'- ACCGACCAAGCTCTCTCCTG -3'
(R):5'- CCCCAACAATTATGGAAGCTG -3'

Sequencing Primer
(F):5'- TTATTTAGGTCACCATCCCCCAAAGG -3'
(R):5'- AAGCTGTTTCCTATTGCAGAGAG -3'

Posted On

2022-08-09