Mutagenetix > Incidental Mutation

Incidental Mutation 'R7449:Krt39'

577579

Institutional Source

Beutler Lab

Gene Symbol

Krt39

Ensembl Gene

ENSMUSG00000064165

Gene Name

keratin 39

Synonyms

4732494G06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99514114-99521338 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99518061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 303 (C303F)

Ref Sequence

ENSEMBL: ENSMUSP00000076216 (fasta)

Gene Model

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

AlphaFold

Q6IFX4

Predicted Effect

probably benign
Transcript: ENSMUST00000076948
AA Change: C303F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: C303F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107445
AA Change: C303F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: C303F

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: 99.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,435,908	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349	D1796N		Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193		probably null	Het
Fam172a	A	G	13: 77,759,442	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384	S923P	probably damaging	Het
Lrrn1	T	C	6: 107,568,521	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tenm4	A	T	7: 96,874,213	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136		probably null	Het
Wdr25	A	C	12: 109,026,441	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058	Q53R	possibly damaging	Het

Other mutations in Krt39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Krt39	APN	11	99519063	missense	probably damaging	0.97
IGL02179:Krt39	APN	11	99520841	missense	probably damaging	1.00
IGL02478:Krt39	APN	11	99520897	missense	probably benign	0.37
IGL02578:Krt39	APN	11	99521206	missense	probably benign	0.00
IGL03090:Krt39	APN	11	99519007	splice site	probably benign
IGL03094:Krt39	APN	11	99520802	splice site	probably benign
R0532:Krt39	UTSW	11	99514791	missense	possibly damaging	0.92
R0789:Krt39	UTSW	11	99521062	missense	probably benign	0.00
R1856:Krt39	UTSW	11	99519088	nonsense	probably null
R1920:Krt39	UTSW	11	99514635	missense	probably benign	0.00
R1944:Krt39	UTSW	11	99519823	missense	probably damaging	1.00
R4391:Krt39	UTSW	11	99514752	missense	probably benign	0.01
R4678:Krt39	UTSW	11	99521000	missense	probably benign	0.02
R4921:Krt39	UTSW	11	99514749	missense	possibly damaging	0.80
R5800:Krt39	UTSW	11	99521145	missense	probably benign	0.09
R6207:Krt39	UTSW	11	99521215	missense	probably damaging	1.00
R6904:Krt39	UTSW	11	99519821	missense	probably damaging	1.00
R7034:Krt39	UTSW	11	99521236	missense	probably benign	0.19
R7036:Krt39	UTSW	11	99521236	missense	probably benign	0.19
R7131:Krt39	UTSW	11	99520871	missense	probably benign
R7424:Krt39	UTSW	11	99518091	missense	probably damaging	1.00
R7627:Krt39	UTSW	11	99514749	missense	possibly damaging	0.80
R7774:Krt39	UTSW	11	99514611	splice site	probably null
R7784:Krt39	UTSW	11	99521031	nonsense	probably null
R7827:Krt39	UTSW	11	99519075	missense	probably damaging	1.00
R8896:Krt39	UTSW	11	99518269	missense	probably damaging	0.99
R8961:Krt39	UTSW	11	99519105	missense	possibly damaging	0.52
R9245:Krt39	UTSW	11	99516624	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTAGCCTTTGTGAAATCC -3'
(R):5'- TTCAATACACAGGTTGGGAGAGC -3'

Sequencing Primer
(F):5'- GAAGTTCTTTTCTAGTCACAGACC -3'
(R):5'- TTGGGAGAGCCAACAAGTC -3'

Posted On

2019-10-07