Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4377001:Krt42'

554941

Institutional Source

Beutler Lab

Gene Symbol

Krt42

Ensembl Gene

ENSMUSG00000053654

Gene Name

keratin 42

Synonyms

Ka22, ecat6, K17n, 2410039E07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

PIT4377001 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

100262882-100269871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100263105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 442 (S442P)

Ref Sequence

ENSEMBL: ENSMUSP00000017270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017270] [ENSMUST00000080893]

AlphaFold

Q6IFX2

Predicted Effect

probably damaging
Transcript: ENSMUST00000017270
AA Change: S442P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017270
Gene: ENSMUSG00000053654
AA Change: S442P

Domain	Start	End	E-Value	Type
low complexity region	62	84	N/A	INTRINSIC
Filament	93	404	5.58e-184	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080893

SMART Domains

Protein: ENSMUSP00000079699
Gene: ENSMUSG00000035557

Domain	Start	End	E-Value	Type
Filament	83	394	9.36e-177	SMART

Coding Region Coverage

1x: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129	C112R	possibly damaging	Het
Acadl	G	A	1: 66,838,405	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,528,985	L1909P	probably damaging	Het
Aff3	A	C	1: 38,538,963	V31G	probably damaging	Het
Bag3	A	G	7: 128,545,717	D352G	probably damaging	Het
Bcas3	A	T	11: 85,495,842	T368S	probably damaging	Het
Bmp3	A	G	5: 98,879,749	I434V	unknown	Het
Casq1	T	A	1: 172,212,001	T336S	probably benign	Het
Cib2	T	G	9: 54,559,987	E11A	probably damaging	Het
Cttn	C	A	7: 144,440,096	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,757,588	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,544,405	A586T	probably benign	Het
Defb1	C	A	8: 21,776,700	Q17K	possibly damaging	Het
Dgat2	T	C	7: 99,157,135	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,263,975	F732Y	probably damaging	Het
Dock2	T	G	11: 34,721,008	D176A	probably benign	Het
Epha6	A	G	16: 60,205,552	I509T	probably damaging	Het
Fblim1	C	T	4: 141,595,409	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,221,727	H371L	probably benign	Het
Foxa1	T	A	12: 57,542,781	I218F	probably damaging	Het
Fstl1	A	T	16: 37,815,805	I53F	probably benign	Het
Gdnf	A	G	15: 7,834,530	R141G	probably benign	Het
Gemin7	G	A	7: 19,565,317	R118*	probably null	Het
Gm43218	T	C	6: 70,240,581	T64A	probably benign	Het
Gnat3	G	A	5: 18,015,559	M243I		Het
Gramd1a	A	T	7: 31,143,670	I71N	possibly damaging	Het
Hist1h4k	C	G	13: 21,750,484	G8R	unknown	Het
Htt	A	T	5: 34,875,965	D1859V	probably benign	Het
Hyal1	T	C	9: 107,579,269	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,991,238	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,766,208	R64G	probably benign	Het
Itgb1	T	A	8: 128,710,383	V95D	probably damaging	Het
Jak1	A	C	4: 101,179,551	N297K	probably benign	Het
Kcna4	T	A	2: 107,296,860	N646K	possibly damaging	Het
Mcm3ap	G	A	10: 76,502,762	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,716,695	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,474,354	T410M	probably damaging	Het
Nav3	T	C	10: 109,716,605	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,948,439	C49R	probably benign	Het
Neurl4	A	G	11: 69,910,406	H1201R	probably benign	Het
Nfasc	T	C	1: 132,583,066	Y1073C	unknown	Het
Nrbp2	A	G	15: 76,087,096	Y253H	probably benign	Het
Olfr1279	T	A	2: 111,306,880	V225D	probably damaging	Het
Olfr1295	T	C	2: 111,565,211	T78A	probably damaging	Het
Olfr95	T	A	17: 37,211,089	I255F	probably benign	Het
Pcsk5	A	T	19: 17,439,102	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,220,912	D147A	probably damaging	Het
Siglec15	T	A	18: 78,057,375		probably benign	Het
Skint5	T	A	4: 113,597,703	T1011S	unknown	Het
Slc9a2	A	G	1: 40,743,841	T422A	probably damaging	Het
Tert	C	T	13: 73,628,261	T377I	possibly damaging	Het
Tex15	T	A	8: 33,571,101	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,696,918	D212G	probably benign	Het
Tnc	T	G	4: 64,017,736	D321A	probably damaging	Het
Topbp1	G	A	9: 103,309,889	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,370,203	M1I	probably null	Het
Vipr2	G	A	12: 116,094,798	D112N	probably benign	Het
Vps13a	T	C	19: 16,740,901	E485G	probably damaging	Het
Vps37a	T	A	8: 40,537,046	I198N	possibly damaging	Het
Zbtb9	T	C	17: 26,974,761	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,242,742	V343L	probably damaging	Het

Other mutations in Krt42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Krt42	APN	11	100263341	missense	possibly damaging	0.93
R0135:Krt42	UTSW	11	100263159	missense	possibly damaging	0.95
R0535:Krt42	UTSW	11	100264586	missense	probably damaging	1.00
R1169:Krt42	UTSW	11	100263345	critical splice acceptor site	probably null
R1456:Krt42	UTSW	11	100269609	missense	probably benign	0.00
R1456:Krt42	UTSW	11	100269610	missense	probably benign	0.04
R1913:Krt42	UTSW	11	100267249	missense	possibly damaging	0.78
R4655:Krt42	UTSW	11	100269845	missense	probably damaging	0.99
R5527:Krt42	UTSW	11	100263295	unclassified	probably benign
R6049:Krt42	UTSW	11	100267060	missense	probably damaging	1.00
R6901:Krt42	UTSW	11	100269716	missense	probably benign	0.00
R7748:Krt42	UTSW	11	100266966	missense	probably damaging	1.00
R7979:Krt42	UTSW	11	100265039	missense	possibly damaging	0.67
R8030:Krt42	UTSW	11	100265039	missense	possibly damaging	0.67
R8031:Krt42	UTSW	11	100265039	missense	possibly damaging	0.67
R8063:Krt42	UTSW	11	100265039	missense	possibly damaging	0.67
R8108:Krt42	UTSW	11	100266957	missense	probably benign	0.01
R9040:Krt42	UTSW	11	100267033	missense	probably damaging	1.00
R9211:Krt42	UTSW	11	100265041	missense	possibly damaging	0.52
R9265:Krt42	UTSW	11	100266982	missense	probably damaging	1.00
Z1177:Krt42	UTSW	11	100267068	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAAGGATCAGACTTCTTCAAAGC -3'
(R):5'- CCCGAGAAGGTAAGAGTCTAATCC -3'

Sequencing Primer
(F):5'- AGCAATTTCTGGGGTCAACC -3'
(R):5'- GAAGGTAAGAGTCTAATCCTGTCCTG -3'

Posted On

2019-06-07