Mutagenetix > Incidental Mutation

Incidental Mutation 'R8961:Krt39'

682353

Institutional Source

Beutler Lab

Gene Symbol

Krt39

Ensembl Gene

ENSMUSG00000064165

Gene Name

keratin 39

Synonyms

4732494G06Rik

MMRRC Submission

068795-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99404940-99412164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99409931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 202 (D202G)

Ref Sequence

ENSEMBL: ENSMUSP00000103069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076948] [ENSMUST00000107445]

AlphaFold

Q6IFX4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076948
AA Change: D202G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: D202G

Domain	Start	End	E-Value	Type
Pfam:Filament	90	401	7.9e-96	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107445
AA Change: D202G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: D202G

Domain	Start	End	E-Value	Type
Filament	90	401	2.63e-130	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

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, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	A	3: 19,664,633 (GRCm39)		probably benign	Het
Angptl6	T	C	9: 20,789,467 (GRCm39)	T142A	probably benign	Het
Atp6v1b2	A	G	8: 69,555,414 (GRCm39)	I202V	probably benign	Het
B3gat2	A	T	1: 23,801,900 (GRCm39)	D62V	probably benign	Het
Ccdc180	A	G	4: 45,929,573 (GRCm39)	D1211G	possibly damaging	Het
Ccp110	T	G	7: 118,322,110 (GRCm39)	D588E	probably damaging	Het
Cdh6	A	T	15: 13,041,447 (GRCm39)	I539K	probably benign	Het
Chd5	A	G	4: 152,467,489 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,680,117 (GRCm39)	S953P	possibly damaging	Het
Dennd2a	T	C	6: 39,462,555 (GRCm39)	K652E	probably damaging	Het
Dnajb3	T	A	1: 88,132,998 (GRCm39)	R135*	probably null	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Elfn2	T	C	15: 78,557,378 (GRCm39)	S390G	probably benign	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fam135b	T	A	15: 71,404,812 (GRCm39)	N78I	probably damaging	Het
Flot2	G	A	11: 77,945,632 (GRCm39)		probably benign	Het
Gm10277	T	A	11: 77,677,826 (GRCm39)		probably benign	Het
Itpr1	T	C	6: 108,470,666 (GRCm39)	V2198A	possibly damaging	Het
Kndc1	T	A	7: 139,503,976 (GRCm39)	F1093L	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Kpna4	T	C	3: 68,986,821 (GRCm39)	T523A	probably benign	Het
Loxhd1	C	T	18: 77,472,765 (GRCm39)	T985M	probably damaging	Het
Mdc1	T	C	17: 36,159,407 (GRCm39)	S596P	probably benign	Het
Misp	A	G	10: 79,663,823 (GRCm39)	Q599R	probably benign	Het
Mogs	C	A	6: 83,092,720 (GRCm39)	F53L	probably benign	Het
Mthfr	A	T	4: 148,128,099 (GRCm39)	N167Y	probably damaging	Het
Nod1	C	T	6: 54,926,461 (GRCm39)	E53K	probably damaging	Het
Or1j11	A	T	2: 36,312,177 (GRCm39)	I256F	probably damaging	Het
Or52l1	A	G	7: 104,830,376 (GRCm39)	I48T	possibly damaging	Het
Or5m5	T	A	2: 85,814,610 (GRCm39)	M142K	probably damaging	Het
Or6c5c	C	T	10: 129,299,225 (GRCm39)	P227S	probably damaging	Het
Or6z5	T	C	7: 6,477,763 (GRCm39)	V218A	probably benign	Het
Pkd1l2	A	G	8: 117,726,717 (GRCm39)	I2263T	possibly damaging	Het
Rbbp8	T	C	18: 11,865,262 (GRCm39)	M717T	probably benign	Het
Rest	A	G	5: 77,416,482 (GRCm39)	H232R	probably damaging	Het
Rps6ka1	A	G	4: 133,587,362 (GRCm39)		probably null	Het
Rtf1	T	A	2: 119,557,377 (GRCm39)	F465I	probably benign	Het
Skil	T	C	3: 31,167,729 (GRCm39)	S454P	probably benign	Het
Snx13	T	C	12: 35,155,285 (GRCm39)	Y450H	probably damaging	Het
Spef2	T	A	15: 9,647,414 (GRCm39)	E971V	possibly damaging	Het
Sqle	T	A	15: 59,187,695 (GRCm39)	M1K	probably null	Het
Srcap	C	G	7: 127,141,101 (GRCm39)	P1566R	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tmc3	T	C	7: 83,256,970 (GRCm39)	Y408H	probably damaging	Het
Uba2	A	T	7: 33,855,642 (GRCm39)		probably benign	Het
Unc13c	G	T	9: 73,839,524 (GRCm39)	N442K	probably benign	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Vwa7	C	T	17: 35,238,086 (GRCm39)	T229I	probably damaging	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Zcchc9	C	A	13: 91,953,955 (GRCm39)		probably benign	Het

Other mutations in Krt39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Krt39	APN	11	99,409,889 (GRCm39)	missense	probably damaging	0.97
IGL02179:Krt39	APN	11	99,411,667 (GRCm39)	missense	probably damaging	1.00
IGL02478:Krt39	APN	11	99,411,723 (GRCm39)	missense	probably benign	0.37
IGL02578:Krt39	APN	11	99,412,032 (GRCm39)	missense	probably benign	0.00
IGL03090:Krt39	APN	11	99,409,833 (GRCm39)	splice site	probably benign
IGL03094:Krt39	APN	11	99,411,628 (GRCm39)	splice site	probably benign
R0532:Krt39	UTSW	11	99,405,617 (GRCm39)	missense	possibly damaging	0.92
R0789:Krt39	UTSW	11	99,411,888 (GRCm39)	missense	probably benign	0.00
R1856:Krt39	UTSW	11	99,409,914 (GRCm39)	nonsense	probably null
R1920:Krt39	UTSW	11	99,405,461 (GRCm39)	missense	probably benign	0.00
R1944:Krt39	UTSW	11	99,410,649 (GRCm39)	missense	probably damaging	1.00
R4391:Krt39	UTSW	11	99,405,578 (GRCm39)	missense	probably benign	0.01
R4678:Krt39	UTSW	11	99,411,826 (GRCm39)	missense	probably benign	0.02
R4921:Krt39	UTSW	11	99,405,575 (GRCm39)	missense	possibly damaging	0.80
R5800:Krt39	UTSW	11	99,411,971 (GRCm39)	missense	probably benign	0.09
R6207:Krt39	UTSW	11	99,412,041 (GRCm39)	missense	probably damaging	1.00
R6904:Krt39	UTSW	11	99,410,647 (GRCm39)	missense	probably damaging	1.00
R7034:Krt39	UTSW	11	99,412,062 (GRCm39)	missense	probably benign	0.19
R7036:Krt39	UTSW	11	99,412,062 (GRCm39)	missense	probably benign	0.19
R7131:Krt39	UTSW	11	99,411,697 (GRCm39)	missense	probably benign
R7424:Krt39	UTSW	11	99,408,917 (GRCm39)	missense	probably damaging	1.00
R7449:Krt39	UTSW	11	99,408,887 (GRCm39)	missense	probably benign	0.02
R7627:Krt39	UTSW	11	99,405,575 (GRCm39)	missense	possibly damaging	0.80
R7774:Krt39	UTSW	11	99,405,437 (GRCm39)	splice site	probably null
R7784:Krt39	UTSW	11	99,411,857 (GRCm39)	nonsense	probably null
R7827:Krt39	UTSW	11	99,409,901 (GRCm39)	missense	probably damaging	1.00
R8896:Krt39	UTSW	11	99,409,095 (GRCm39)	missense	probably damaging	0.99
R9245:Krt39	UTSW	11	99,407,450 (GRCm39)	missense	probably damaging	1.00
R9784:Krt39	UTSW	11	99,409,188 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGACCAGAGCTATGGCGAAG -3'
(R):5'- CTGCTACAAAGAATAACGTCTTCC -3'

Sequencing Primer
(F):5'- CGAAGTGCCTAGTGGGAATACAC -3'
(R):5'- CGTCTTCCATAGAAACACAGAGAGAG -3'

Posted On

2021-08-31