Mutagenetix > Incidental Mutation

Incidental Mutation 'R4544:Krt23'

333690

Institutional Source

Beutler Lab

Gene Symbol

Krt23

Ensembl Gene

ENSMUSG00000006777

Gene Name

keratin 23

Synonyms

K23, Krt1-23, CK23

MMRRC Submission

041779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99368799-99383946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99369102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 397 (T397M)

Ref Sequence

ENSEMBL: ENSMUSP00000006969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006969]

AlphaFold

Q99PS0

Predicted Effect

probably benign
Transcript: ENSMUST00000006969
AA Change: T397M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
AA Change: T397M

Domain	Start	End	E-Value	Type
Filament	71	381	9.77e-116	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (58/58)

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 family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
C1s1	A	G	6: 124,508,499 (GRCm39)	S497P	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Chil4	C	A	3: 106,117,922 (GRCm39)	R116L	probably damaging	Het
Cmpk2	A	G	12: 26,528,016 (GRCm39)	E411G	probably damaging	Het
Cmya5	G	A	13: 93,228,426 (GRCm39)	R2221*	probably null	Het
Csmd1	A	T	8: 16,760,652 (GRCm39)	F161Y	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Dppa3	A	G	6: 122,603,726 (GRCm39)		probably benign	Het
Ednra	A	G	8: 78,401,540 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,549,603 (GRCm39)		probably null	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Fndc1	T	A	17: 7,992,376 (GRCm39)	D440V	unknown	Het
Gm9934	A	G	7: 92,702,188 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ifi205	T	C	1: 173,854,139 (GRCm39)	I171M	possibly damaging	Het
Ifi213	T	C	1: 173,409,693 (GRCm39)		probably null	Het
Insig2	A	T	1: 121,239,921 (GRCm39)		probably benign	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Lepr	G	A	4: 101,625,425 (GRCm39)	V527I	possibly damaging	Het
Lmo2	C	T	2: 103,806,382 (GRCm39)	P25L	probably damaging	Het
Lsr	C	T	7: 30,671,401 (GRCm39)	V111M	probably damaging	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Mkx	T	C	18: 7,000,651 (GRCm39)	Y97C	probably damaging	Het
Mndal	A	T	1: 173,703,230 (GRCm39)	Y58*	probably null	Het
Myo9b	T	C	8: 71,780,585 (GRCm39)	V494A	probably damaging	Het
Nek1	C	T	8: 61,469,338 (GRCm39)	Q132*	probably null	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Or6c5	A	C	10: 129,074,027 (GRCm39)	N3T	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pde8a	A	T	7: 80,977,847 (GRCm39)	R713S	probably damaging	Het
Pex10	T	C	4: 155,154,952 (GRCm39)	Y235H	probably benign	Het
Pik3cb	T	A	9: 98,921,812 (GRCm39)	K1050I	probably damaging	Het
Prss56	A	G	1: 87,112,364 (GRCm39)	D85G	probably damaging	Het
Psg26	T	C	7: 18,212,464 (GRCm39)	N297S	probably damaging	Het
Rdh16f1	T	C	10: 127,626,706 (GRCm39)	L253S	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Slc8b1	G	A	5: 120,669,218 (GRCm39)		probably null	Het
Sorbs1	G	A	19: 40,300,294 (GRCm39)	T575M	probably damaging	Het
Syne3	T	A	12: 104,925,728 (GRCm39)	K313M	probably damaging	Het
Tas2r108	A	G	6: 40,470,742 (GRCm39)	T73A	probably benign	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Uba52rt	C	T	4: 3,973,244 (GRCm39)	R106H	probably benign	Het
Ubr3	G	A	2: 69,786,437 (GRCm39)	M850I	probably benign	Het
Vmn2r78	A	T	7: 86,570,399 (GRCm39)	M306L	probably benign	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	Het

Other mutations in Krt23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Krt23	APN	11	99,383,610 (GRCm39)	missense	probably damaging	1.00
IGL01674:Krt23	APN	11	99,377,593 (GRCm39)	missense	probably benign
IGL01946:Krt23	APN	11	99,383,665 (GRCm39)	missense	possibly damaging	0.78
IGL02097:Krt23	APN	11	99,383,836 (GRCm39)	missense	probably benign	0.00
IGL02158:Krt23	APN	11	99,383,490 (GRCm39)	splice site	probably benign
IGL03077:Krt23	APN	11	99,374,700 (GRCm39)	splice site	probably benign
R0302:Krt23	UTSW	11	99,369,027 (GRCm39)	missense	probably benign	0.09
R0355:Krt23	UTSW	11	99,376,613 (GRCm39)	missense	probably benign	0.00
R0450:Krt23	UTSW	11	99,377,608 (GRCm39)	missense	probably damaging	1.00
R0456:Krt23	UTSW	11	99,377,604 (GRCm39)	missense	probably benign
R0469:Krt23	UTSW	11	99,377,608 (GRCm39)	missense	probably damaging	1.00
R0480:Krt23	UTSW	11	99,377,524 (GRCm39)	critical splice donor site	probably null
R0510:Krt23	UTSW	11	99,377,608 (GRCm39)	missense	probably damaging	1.00
R1052:Krt23	UTSW	11	99,369,045 (GRCm39)	missense	probably benign	0.02
R1729:Krt23	UTSW	11	99,383,790 (GRCm39)	missense	probably damaging	1.00
R1784:Krt23	UTSW	11	99,383,790 (GRCm39)	missense	probably damaging	1.00
R2901:Krt23	UTSW	11	99,374,797 (GRCm39)	missense	probably damaging	0.98
R2902:Krt23	UTSW	11	99,374,797 (GRCm39)	missense	probably damaging	0.98
R4059:Krt23	UTSW	11	99,376,614 (GRCm39)	missense	probably benign	0.16
R5272:Krt23	UTSW	11	99,369,099 (GRCm39)	missense	probably damaging	1.00
R6160:Krt23	UTSW	11	99,376,544 (GRCm39)	missense	probably damaging	0.99
R6190:Krt23	UTSW	11	99,376,584 (GRCm39)	missense	probably damaging	0.98
R6968:Krt23	UTSW	11	99,371,900 (GRCm39)	missense	probably damaging	1.00
R7293:Krt23	UTSW	11	99,374,682 (GRCm39)	missense	probably benign
R7568:Krt23	UTSW	11	99,383,626 (GRCm39)	nonsense	probably null
R8367:Krt23	UTSW	11	99,383,715 (GRCm39)	nonsense	probably null
R8868:Krt23	UTSW	11	99,374,567 (GRCm39)	splice site	probably benign
R9124:Krt23	UTSW	11	99,383,755 (GRCm39)	missense	probably damaging	1.00
R9196:Krt23	UTSW	11	99,371,855 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ATTTCCGTCGAGACTCACCC -3'
(R):5'- TCCAGAAAGTAGCATTGTTCAGAG -3'

Sequencing Primer
(F):5'- CATTAGCGCGGAGACAAAGACTTTC -3'
(R):5'- ACATGGGGATTTCCTCCAAG -3'

Posted On

2015-08-18