Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Krt39'

503219

Institutional Source

Beutler Lab

Gene Symbol

Krt39

Ensembl Gene

ENSMUSG00000064165

Gene Name

keratin 39

Synonyms

4732494G06Rik

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

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

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99404940-99412164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99412041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 15 (P15Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103069 (fasta)

Gene Model

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

AlphaFold

Q6IFX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000076948
AA Change: P15Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: P15Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107445
AA Change: P15Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: P15Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Abca15	A	G	7: 119,973,017 (GRCm39)	R864G	probably benign	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cep85l	T	C	10: 53,157,651 (GRCm39)	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dot1l	C	T	10: 80,622,277 (GRCm39)	A831V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,213,265 (GRCm39)	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,037,165 (GRCm39)	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Tulp1	A	T	17: 28,577,651 (GRCm39)		probably benign	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (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
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
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'- GTTAATGCCTTCAGTGCACCTG -3'
(R):5'- TCTGTGTCACCACCTGGAAG -3'

Sequencing Primer
(F):5'- TGCTGCCATCATCCAGACAAGG -3'
(R):5'- TCACCACCTGGAAGGAAGGC -3'

Posted On

2018-02-27