Mutagenetix > Incidental Mutation

Incidental Mutation 'R5800:Krt39'

447359

Institutional Source

Beutler Lab

Gene Symbol

Krt39

Ensembl Gene

ENSMUSG00000064165

Gene Name

keratin 39

Synonyms

4732494G06Rik

MMRRC Submission

043389-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99404940-99412164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99411971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 38 (D38E)

Ref Sequence

ENSEMBL: ENSMUSP00000103069 (fasta)

Gene Model

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

AlphaFold

Q6IFX4

Predicted Effect

probably benign
Transcript: ENSMUST00000076948
AA Change: D38E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: D38E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107445
AA Change: D38E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: D38E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

96% (50/52)

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
Abca12	A	T	1: 71,360,591 (GRCm39)	V540D	possibly damaging	Het
Adamts8	A	T	9: 30,865,778 (GRCm39)	D442V	probably damaging	Het
B3galt9	T	C	2: 34,728,654 (GRCm39)	F151S	possibly damaging	Het
Bltp1	A	G	3: 37,106,592 (GRCm39)	D4974G	probably damaging	Het
Casp4	G	A	9: 5,308,915 (GRCm39)		probably null	Het
Cfap45	T	A	1: 172,366,167 (GRCm39)	V30E	probably damaging	Het
Col6a4	A	G	9: 105,957,474 (GRCm39)	F117L	probably damaging	Het
Dnah7c	A	T	1: 46,686,175 (GRCm39)	T1810S	probably benign	Het
Drosha	C	T	15: 12,865,153 (GRCm39)	T627M	probably damaging	Het
Drosha	C	A	15: 12,902,733 (GRCm39)	A1001D	probably damaging	Het
Efhc1	G	A	1: 21,049,005 (GRCm39)	V473I	probably benign	Het
Ephx2	T	C	14: 66,344,751 (GRCm39)	K191R	probably benign	Het
Ero1b	T	A	13: 12,617,190 (GRCm39)		probably null	Het
Esyt2	A	T	12: 116,333,808 (GRCm39)	D837V	possibly damaging	Het
Fip1l1	T	A	5: 74,706,742 (GRCm39)	D126E	possibly damaging	Het
Fyttd1	C	T	16: 32,711,658 (GRCm39)	R86C	probably damaging	Het
Gm12888	T	A	4: 121,176,625 (GRCm39)	T59S	probably damaging	Het
Gm7353	A	T	7: 3,160,168 (GRCm39)		noncoding transcript	Het
Gpr153	C	T	4: 152,364,534 (GRCm39)	Q197*	probably null	Het
Grep1	G	A	17: 23,936,966 (GRCm39)	P72S	probably damaging	Het
H2-T23	G	T	17: 36,342,496 (GRCm39)		probably benign	Het
Ighv1-16	T	A	12: 114,629,531 (GRCm39)	R85S	probably benign	Het
Ipcef1	T	A	10: 6,840,569 (GRCm39)	D376V	probably damaging	Het
Kdm1a	T	A	4: 136,300,381 (GRCm39)		probably null	Het
Klk1b27	A	T	7: 43,705,088 (GRCm39)	Q85L	probably benign	Het
L1td1	T	C	4: 98,621,999 (GRCm39)	L187P	possibly damaging	Het
Lrrc8b	C	T	5: 105,629,208 (GRCm39)	S518L	probably benign	Het
Lyg1	C	T	1: 37,986,034 (GRCm39)	D176N	probably damaging	Het
Mctp1	A	G	13: 76,836,678 (GRCm39)	N82D	probably damaging	Het
Muc6	T	C	7: 141,226,690 (GRCm39)		probably benign	Het
Nynrin	T	C	14: 56,108,088 (GRCm39)	L1065P	probably damaging	Het
Or5b118	T	C	19: 13,449,260 (GRCm39)	S309P	probably benign	Het
Pcdh7	T	A	5: 57,879,567 (GRCm39)	S1041T	probably damaging	Het
Pkd1l1	T	A	11: 8,811,302 (GRCm39)	M1518L	probably benign	Het
Prl8a6	G	T	13: 27,619,453 (GRCm39)	Q90K	probably benign	Het
Ptcd1	T	A	5: 145,096,475 (GRCm39)	D206V	probably damaging	Het
Rap1gap	C	A	4: 137,447,688 (GRCm39)	D478E	probably benign	Het
Scn5a	A	G	9: 119,330,732 (GRCm39)	Y1269H	probably damaging	Het
Sdc2	A	T	15: 33,028,290 (GRCm39)	H136L	probably benign	Het
Senp6	A	T	9: 80,033,715 (GRCm39)	I120F	probably damaging	Het
Shisa5	G	A	9: 108,885,162 (GRCm39)		probably null	Het
Slc19a1	A	G	10: 76,878,103 (GRCm39)	S213G	probably null	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tbc1d20	T	A	2: 152,150,245 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,093,373 (GRCm39)	H481R	probably benign	Het
Tmc7	A	G	7: 118,138,663 (GRCm39)	V692A	probably benign	Het
Tmem234	T	C	4: 129,500,924 (GRCm39)		probably null	Het
Vmn1r237	C	G	17: 21,535,069 (GRCm39)	T264S	probably benign	Het
Vmn2r98	A	T	17: 19,286,260 (GRCm39)	T253S	probably benign	Het
Zfyve27	T	C	19: 42,171,102 (GRCm39)	Y191H	probably damaging	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
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
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'- TCGTTCAAAATCTGCATGGTCTC -3'
(R):5'- TGTCACCACCTGGAAGGAAG -3'

Sequencing Primer
(F):5'- GCATGGTCTCCTTCTCATGAGTG -3'
(R):5'- CCACAGGCTGGCATTTGG -3'

Posted On

2016-12-15