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

045524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) 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 (GRCm38)	Y306N	possibly damaging	Het
Adgrv1	A	T	13: 81,499,073 (GRCm38)	V3116D	probably damaging	Het
Adssl1	A	T	12: 112,634,151 (GRCm38)	T185S	probably damaging	Het
Ago2	G	A	15: 73,146,499 (GRCm38)	P30L	probably damaging	Het
Atp5j	C	T	16: 84,831,363 (GRCm38)	V44M	probably benign	Het
Atp7b	T	A	8: 22,011,849 (GRCm38)	I833F	probably damaging	Het
Birc6	T	A	17: 74,702,341 (GRCm38)	N4869K	probably benign	Het
Cacna1c	C	T	6: 118,602,349 (GRCm38)	D1796N		Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cnga1	A	G	5: 72,605,304 (GRCm38)	I289T	probably benign	Het
Crybg1	C	A	10: 44,004,519 (GRCm38)	E224D	probably benign	Het
Dysf	T	C	6: 84,137,380 (GRCm38)	L1217P	possibly damaging	Het
Ebf2	T	A	14: 67,410,020 (GRCm38)	N339K	probably damaging	Het
Eva1c	T	C	16: 90,876,193 (GRCm38)		probably null	Het
Fam172a	A	G	13: 77,759,442 (GRCm38)	I41V	probably damaging	Het
Fam184a	T	C	10: 53,698,634 (GRCm38)	E293G	probably damaging	Het
Folh1	G	A	7: 86,731,748 (GRCm38)	P506S	probably benign	Het
Ftcd	A	T	10: 76,580,163 (GRCm38)	K210N	probably benign	Het
Gdf6	T	A	4: 9,844,494 (GRCm38)	V6D	possibly damaging	Het
Ghitm	C	A	14: 37,131,581 (GRCm38)	G101C	probably damaging	Het
Gimap5	T	A	6: 48,752,904 (GRCm38)	V136D	probably damaging	Het
Gm9745	T	A	13: 8,943,304 (GRCm38)	H51L	probably damaging	Het
Grm4	C	T	17: 27,435,371 (GRCm38)	G535D	probably damaging	Het
Gse1	T	C	8: 120,229,711 (GRCm38)	S314P	unknown	Het
Hnrnpdl	A	G	5: 100,037,155 (GRCm38)	I279T	probably damaging	Het
Itpr1	T	C	6: 108,389,384 (GRCm38)	S923P	probably damaging	Het
Lrrn1	T	C	6: 107,568,521 (GRCm38)	S427P	possibly damaging	Het
Lrrn3	T	A	12: 41,453,488 (GRCm38)	R277W	probably damaging	Het
Ltb4r1	T	C	14: 55,767,918 (GRCm38)	L226P	probably damaging	Het
Map1b	C	T	13: 99,508,140 (GRCm38)	R85Q	probably damaging	Het
Mcoln1	T	C	8: 3,507,285 (GRCm38)	L125P	probably damaging	Het
Nid1	T	G	13: 13,482,051 (GRCm38)	V589G	probably damaging	Het
Nlrp5	T	G	7: 23,417,526 (GRCm38)	F225C	probably benign	Het
Notch3	C	T	17: 32,157,966 (GRCm38)	A322T	probably damaging	Het
Olfr299	A	G	7: 86,465,855 (GRCm38)	H148R	probably benign	Het
Olfr69	G	T	7: 103,767,819 (GRCm38)	Q193K	probably benign	Het
Olfr854	T	A	9: 19,566,866 (GRCm38)	T173S	probably benign	Het
Otogl	A	G	10: 107,803,663 (GRCm38)	C1363R	probably damaging	Het
Ovol1	T	A	19: 5,553,597 (GRCm38)	D92V	probably benign	Het
Pigt	T	C	2: 164,502,499 (GRCm38)	L356P	probably damaging	Het
Plekhg3	A	G	12: 76,566,222 (GRCm38)	Q434R	probably damaging	Het
Plekhh1	T	C	12: 79,079,552 (GRCm38)	F1344L	probably benign	Het
Psmd3	T	A	11: 98,695,551 (GRCm38)	L515Q	probably damaging	Het
Pus1	A	G	5: 110,774,586 (GRCm38)	L405P	probably damaging	Het
Qtrt2	T	A	16: 43,881,032 (GRCm38)	H55L	probably benign	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Raver2	T	A	4: 101,102,663 (GRCm38)	H113Q	probably damaging	Het
Recql4	T	C	15: 76,705,565 (GRCm38)	D760G	unknown	Het
Rhobtb3	C	T	13: 75,910,741 (GRCm38)	V313M	probably benign	Het
Rhox4d	G	A	X: 37,518,992 (GRCm38)	G191E	unknown	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Rnf185	T	C	11: 3,426,578 (GRCm38)	Q135R	probably benign	Het
Sema3f	T	C	9: 107,684,036 (GRCm38)	S584G	probably damaging	Het
Sh3pxd2a	T	A	19: 47,267,652 (GRCm38)	T904S	probably benign	Het
Slc4a10	T	C	2: 62,303,946 (GRCm38)	V1002A	probably benign	Het
Taf1b	T	C	12: 24,504,993 (GRCm38)	I55T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708 (GRCm38)		probably benign	Het
Tenm4	A	T	7: 96,874,213 (GRCm38)	D1654V	possibly damaging	Het
Tgfb1	G	A	7: 25,704,838 (GRCm38)	V357M	probably damaging	Het
Tnxb	C	T	17: 34,703,361 (GRCm38)	P2383S	possibly damaging	Het
Trpm1	A	T	7: 64,208,975 (GRCm38)	M382L	probably benign	Het
Trrap	A	G	5: 144,851,209 (GRCm38)	Y3516C	probably damaging	Het
Txnrd1	T	A	10: 82,885,233 (GRCm38)	Y494*	probably null	Het
Ubr2	C	T	17: 46,964,788 (GRCm38)	E811K	probably damaging	Het
Ubxn4	T	A	1: 128,244,543 (GRCm38)	F25I	possibly damaging	Het
Vmn2r117	A	G	17: 23,459,895 (GRCm38)	M785T	probably damaging	Het
Vmn2r99	G	A	17: 19,379,145 (GRCm38)	D364N	probably benign	Het
Vps45	C	A	3: 96,047,136 (GRCm38)		probably null	Het
Wdr25	A	C	12: 109,026,441 (GRCm38)	H426P	probably damaging	Het
Wdr83	A	T	8: 85,079,681 (GRCm38)	W136R	probably damaging	Het
Xylt1	A	C	7: 117,592,005 (GRCm38)	I343L	possibly damaging	Het
Znrd1as	A	G	17: 36,964,383 (GRCm38)	D16G	probably damaging	Het
Zscan4b	T	C	7: 10,904,058 (GRCm38)	Q53R	possibly damaging	Het

Other mutations in Krt39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Krt39	APN	11	99,519,063 (GRCm38)	missense	probably damaging	0.97
IGL02179:Krt39	APN	11	99,520,841 (GRCm38)	missense	probably damaging	1.00
IGL02478:Krt39	APN	11	99,520,897 (GRCm38)	missense	probably benign	0.37
IGL02578:Krt39	APN	11	99,521,206 (GRCm38)	missense	probably benign	0.00
IGL03090:Krt39	APN	11	99,519,007 (GRCm38)	splice site	probably benign
IGL03094:Krt39	APN	11	99,520,802 (GRCm38)	splice site	probably benign
R0532:Krt39	UTSW	11	99,514,791 (GRCm38)	missense	possibly damaging	0.92
R0789:Krt39	UTSW	11	99,521,062 (GRCm38)	missense	probably benign	0.00
R1856:Krt39	UTSW	11	99,519,088 (GRCm38)	nonsense	probably null
R1920:Krt39	UTSW	11	99,514,635 (GRCm38)	missense	probably benign	0.00
R1944:Krt39	UTSW	11	99,519,823 (GRCm38)	missense	probably damaging	1.00
R4391:Krt39	UTSW	11	99,514,752 (GRCm38)	missense	probably benign	0.01
R4678:Krt39	UTSW	11	99,521,000 (GRCm38)	missense	probably benign	0.02
R4921:Krt39	UTSW	11	99,514,749 (GRCm38)	missense	possibly damaging	0.80
R5800:Krt39	UTSW	11	99,521,145 (GRCm38)	missense	probably benign	0.09
R6207:Krt39	UTSW	11	99,521,215 (GRCm38)	missense	probably damaging	1.00
R6904:Krt39	UTSW	11	99,519,821 (GRCm38)	missense	probably damaging	1.00
R7034:Krt39	UTSW	11	99,521,236 (GRCm38)	missense	probably benign	0.19
R7036:Krt39	UTSW	11	99,521,236 (GRCm38)	missense	probably benign	0.19
R7131:Krt39	UTSW	11	99,520,871 (GRCm38)	missense	probably benign
R7424:Krt39	UTSW	11	99,518,091 (GRCm38)	missense	probably damaging	1.00
R7627:Krt39	UTSW	11	99,514,749 (GRCm38)	missense	possibly damaging	0.80
R7774:Krt39	UTSW	11	99,514,611 (GRCm38)	splice site	probably null
R7784:Krt39	UTSW	11	99,521,031 (GRCm38)	nonsense	probably null
R7827:Krt39	UTSW	11	99,519,075 (GRCm38)	missense	probably damaging	1.00
R8896:Krt39	UTSW	11	99,518,269 (GRCm38)	missense	probably damaging	0.99
R8961:Krt39	UTSW	11	99,519,105 (GRCm38)	missense	possibly damaging	0.52
R9245:Krt39	UTSW	11	99,516,624 (GRCm38)	missense	probably damaging	1.00
R9784:Krt39	UTSW	11	99,518,362 (GRCm38)	missense	possibly damaging	0.70

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