Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Krt39'

628602

Institutional Source

Beutler Lab

Gene Symbol

Krt39

Ensembl Gene

ENSMUSG00000064165

Gene Name

keratin 39

Synonyms

4732494G06Rik

MMRRC Submission

045830-MU

Accession Numbers

Essential gene?

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

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99404940-99412164 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 99405437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103069 (fasta)

Gene Model

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

AlphaFold

Q6IFX4

Predicted Effect

probably benign
Transcript: ENSMUST00000076948

SMART Domains

Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165

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

Predicted Effect

probably null
Transcript: ENSMUST00000107445

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165

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

Predicted Effect

probably null
Transcript: ENSMUST00000107445

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165

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

Predicted Effect

probably null
Transcript: ENSMUST00000107445

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,494,414 (GRCm39)	T809N	probably benign	Het
Adgb	C	A	10: 10,215,404 (GRCm39)	E1561*	probably null	Het
Adgra1	A	T	7: 139,427,628 (GRCm39)	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,688,103 (GRCm39)	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,754,161 (GRCm39)	K177E	unknown	Het
Ccdc122	T	C	14: 77,305,379 (GRCm39)	V11A	probably benign	Het
Clasp2	T	A	9: 113,677,804 (GRCm39)		probably null	Het
Col6a1	T	C	10: 76,545,710 (GRCm39)	T921A	unknown	Het
Cul3	A	C	1: 80,247,011 (GRCm39)	D697E	probably benign	Het
Defa34	G	A	8: 22,155,978 (GRCm39)	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,700,641 (GRCm39)	R63G	probably damaging	Het
Dnaaf11	T	G	15: 66,321,401 (GRCm39)	I247L	probably benign	Het
Dnah3	T	A	7: 119,550,975 (GRCm39)	K136*	probably null	Het
Exoc7	T	C	11: 116,186,142 (GRCm39)	D353G	possibly damaging	Het
Fbxw21	T	C	9: 108,972,908 (GRCm39)	Y342C	probably benign	Het
Fitm2	T	A	2: 163,311,986 (GRCm39)	I76F	probably damaging	Het
Fryl	A	T	5: 73,240,727 (GRCm39)	I1291N	probably benign	Het
Fzd2	A	T	11: 102,496,314 (GRCm39)	I253F	possibly damaging	Het
Gm5592	A	T	7: 40,939,283 (GRCm39)	Y855F	probably damaging	Het
H1f6	A	G	13: 23,880,183 (GRCm39)	K112R	possibly damaging	Het
H4c16	G	T	6: 136,781,281 (GRCm39)	P33T	possibly damaging	Het
Helz2	T	C	2: 180,875,784 (GRCm39)	Y1570C	probably benign	Het
Ints11	A	G	4: 155,970,140 (GRCm39)	T228A	probably benign	Het
Ipo13	G	T	4: 117,771,494 (GRCm39)	N25K	probably benign	Het
Itga9	T	A	9: 118,700,968 (GRCm39)	I917N	probably damaging	Het
Krtap13-1	C	T	16: 88,526,061 (GRCm39)	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,368,863 (GRCm39)	E107*	probably null	Het
Ly6a	A	T	15: 74,869,416 (GRCm39)	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,768,407 (GRCm39)	T275A	probably benign	Het
Mgat3	C	T	15: 80,095,743 (GRCm39)	T190M	probably damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mucl1	G	T	15: 103,783,950 (GRCm39)	N85K	possibly damaging	Het
Nifk	G	A	1: 118,255,391 (GRCm39)	E96K	possibly damaging	Het
Opn3	C	T	1: 175,490,471 (GRCm39)	V397M	probably damaging	Het
Or52ad1	T	C	7: 102,995,737 (GRCm39)	R133G	possibly damaging	Het
Or5ae1	T	A	7: 84,565,739 (GRCm39)	F251I	probably damaging	Het
Or8c17	T	C	9: 38,180,655 (GRCm39)	V274A	probably damaging	Het
Pcdha2	A	G	18: 37,074,579 (GRCm39)	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757 (GRCm39)	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,404,303 (GRCm39)	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,360,802 (GRCm39)	C195*	probably null	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pramel23	C	T	4: 143,423,676 (GRCm39)	S371N	possibly damaging	Het
Ptprq	T	C	10: 107,479,530 (GRCm39)	T1166A	probably damaging	Het
Ran	G	A	5: 129,099,874 (GRCm39)	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,318,309 (GRCm39)	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,430,101 (GRCm39)	E227D	probably benign	Het
Sec24b	C	A	3: 129,777,846 (GRCm39)	R1204L	possibly damaging	Het
Shroom3	T	C	5: 93,098,348 (GRCm39)	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,084,814 (GRCm39)	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,092,142 (GRCm39)	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,440,847 (GRCm39)	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,899,606 (GRCm39)	D658G	probably benign	Het
Tlr6	T	G	5: 65,110,728 (GRCm39)	E726D	probably damaging	Het
Tmem218	T	A	9: 37,133,864 (GRCm39)	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,098,795 (GRCm39)	Q82*	probably null	Het
Trpm7	A	G	2: 126,655,158 (GRCm39)	V1260A	probably benign	Het
Trpm8	A	T	1: 88,258,563 (GRCm39)	E282V	probably damaging	Het
Tuba8	T	C	6: 121,200,348 (GRCm39)	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,245,245 (GRCm39)		probably null	Het
Zfp174	G	A	16: 3,667,215 (GRCm39)	V135M	probably damaging	Het
Zfp418	G	A	7: 7,185,776 (GRCm39)	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,844,474 (GRCm39)	E44D	probably benign	Het
Zfp521	T	C	18: 13,978,838 (GRCm39)	D525G	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
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
R8961:Krt39	UTSW	11	99,409,931 (GRCm39)	missense	possibly damaging	0.52
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'- CAATGTAGGCACTAGCTAACCAG -3'
(R):5'- ACTCCCTGGGATTCACAAGC -3'

Sequencing Primer
(F):5'- TGTCCTTCCAGAGAAATGTGAC -3'
(R):5'- ATTCACAAGCCCTGCCGTG -3'

Posted On

2020-05-18