Mutagenetix > Incidental Mutation

Incidental Mutation 'R0535:Krt42'

49424

Institutional Source

Beutler Lab

Gene Symbol

Krt42

Ensembl Gene

ENSMUSG00000053654

Gene Name

keratin 42

Synonyms

2410039E07Rik, K17n, Ka22, ecat6

MMRRC Submission

038727-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0535 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

100153708-100160697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100155412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 368 (C368Y)

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: C368Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017270
Gene: ENSMUSG00000053654
AA Change: C368Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107406

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,019 (GRCm39)	S1069P	probably benign	Het
Acmsd	A	T	1: 127,693,680 (GRCm39)	I305L	probably benign	Het
Aco2	G	A	15: 81,797,418 (GRCm39)	E625K	possibly damaging	Het
Acox1	G	A	11: 116,065,264 (GRCm39)	T561I	possibly damaging	Het
Acox2	T	A	14: 8,256,753 (GRCm38)	T37S	probably damaging	Het
Apc	A	T	18: 34,394,125 (GRCm39)	K17M	probably damaging	Het
Cant1	T	C	11: 118,301,969 (GRCm39)	D116G	probably damaging	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
Cyp51	T	C	5: 4,149,202 (GRCm39)	Q225R	probably benign	Het
E2f8	T	C	7: 48,521,558 (GRCm39)		probably benign	Het
Fam163b	T	C	2: 27,002,778 (GRCm39)	Y73C	probably benign	Het
Fbxw9	T	C	8: 85,791,229 (GRCm39)	C271R	probably damaging	Het
Gbp10	T	C	5: 105,368,877 (GRCm39)	N321D	possibly damaging	Het
Gle1	T	C	2: 29,847,817 (GRCm39)	F675L	probably damaging	Het
Gm6327	T	C	16: 12,578,241 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,538,824 (GRCm39)	F157I	possibly damaging	Het
Gtpbp1	A	T	15: 79,591,933 (GRCm39)	T94S	probably damaging	Het
Hdac2	T	C	10: 36,869,895 (GRCm39)	F286L	probably benign	Het
Ighv3-6	A	T	12: 114,252,090 (GRCm39)		probably benign	Het
Itga2b	A	G	11: 102,348,359 (GRCm39)	V791A	possibly damaging	Het
Itgb4	A	T	11: 115,881,835 (GRCm39)	I796F	possibly damaging	Het
Kel	T	C	6: 41,667,772 (GRCm39)	K390R	probably null	Het
Lancl1	A	G	1: 67,049,065 (GRCm39)		probably benign	Het
Lipg	A	G	18: 75,087,291 (GRCm39)	Y177H	probably damaging	Het
Lnpep	T	C	17: 17,791,935 (GRCm39)	E402G	possibly damaging	Het
Ltbp2	A	G	12: 84,837,826 (GRCm39)	F1185L	probably damaging	Het
Ltbp2	A	T	12: 84,831,632 (GRCm39)	I1727N	probably damaging	Het
Mettl22	T	C	16: 8,302,210 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,875,209 (GRCm39)	E847G	possibly damaging	Het
Mug1	G	A	6: 121,828,413 (GRCm39)	G275E	probably benign	Het
Nell2	T	A	15: 95,329,488 (GRCm39)	T278S	probably benign	Het
Nomo1	T	A	7: 45,721,941 (GRCm39)	S961T	probably damaging	Het
Or5ak22	A	G	2: 85,230,439 (GRCm39)	L146P	possibly damaging	Het
Pcare	A	G	17: 72,059,434 (GRCm39)	V81A	probably benign	Het
Phf2	A	G	13: 48,967,423 (GRCm39)	Y675H	unknown	Het
Phldb2	A	G	16: 45,577,490 (GRCm39)	V1145A	probably damaging	Het
Phrf1	T	C	7: 140,839,978 (GRCm39)	S1058P	probably benign	Het
Prss3	T	C	6: 41,351,903 (GRCm39)	N120S	probably benign	Het
Reln	G	T	5: 22,256,274 (GRCm39)		probably benign	Het
Spag5	A	G	11: 78,195,554 (GRCm39)	Y287C	probably benign	Het
Syde2	G	A	3: 145,694,925 (GRCm39)		probably null	Het
Synj1	C	A	16: 90,744,975 (GRCm39)	V1190F	possibly damaging	Het
Taok1	A	T	11: 77,444,530 (GRCm39)	I515N	probably benign	Het
Tmem259	A	T	10: 79,814,429 (GRCm39)	V309E	probably damaging	Het
Tmem62	T	A	2: 120,833,077 (GRCm39)	V494E	possibly damaging	Het
Trak1	A	T	9: 121,272,778 (GRCm39)	E119V	probably null	Het
Vmn1r1	T	A	1: 181,985,516 (GRCm39)	I50L	probably benign	Het
Vps35l	T	C	7: 118,347,404 (GRCm39)	F118S	possibly damaging	Het
Xpc	C	T	6: 91,481,560 (GRCm39)	V254I	possibly damaging	Het
Zfp58	G	A	13: 67,640,201 (GRCm39)	Q97*	probably null	Het
Zscan5b	A	G	7: 6,236,911 (GRCm39)	E220G	possibly damaging	Het

Other mutations in Krt42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Krt42	APN	11	100,154,167 (GRCm39)	missense	possibly damaging	0.93
PIT4377001:Krt42	UTSW	11	100,153,931 (GRCm39)	missense	probably damaging	0.97
R0135:Krt42	UTSW	11	100,153,985 (GRCm39)	missense	possibly damaging	0.95
R1169:Krt42	UTSW	11	100,154,171 (GRCm39)	critical splice acceptor site	probably null
R1456:Krt42	UTSW	11	100,160,436 (GRCm39)	missense	probably benign	0.04
R1456:Krt42	UTSW	11	100,160,435 (GRCm39)	missense	probably benign	0.00
R1913:Krt42	UTSW	11	100,158,075 (GRCm39)	missense	possibly damaging	0.78
R4655:Krt42	UTSW	11	100,160,671 (GRCm39)	missense	probably damaging	0.99
R5527:Krt42	UTSW	11	100,154,121 (GRCm39)	unclassified	probably benign
R6049:Krt42	UTSW	11	100,157,886 (GRCm39)	missense	probably damaging	1.00
R6901:Krt42	UTSW	11	100,160,542 (GRCm39)	missense	probably benign	0.00
R7748:Krt42	UTSW	11	100,157,792 (GRCm39)	missense	probably damaging	1.00
R7979:Krt42	UTSW	11	100,155,865 (GRCm39)	missense	possibly damaging	0.67
R8030:Krt42	UTSW	11	100,155,865 (GRCm39)	missense	possibly damaging	0.67
R8031:Krt42	UTSW	11	100,155,865 (GRCm39)	missense	possibly damaging	0.67
R8063:Krt42	UTSW	11	100,155,865 (GRCm39)	missense	possibly damaging	0.67
R8108:Krt42	UTSW	11	100,157,783 (GRCm39)	missense	probably benign	0.01
R9040:Krt42	UTSW	11	100,157,859 (GRCm39)	missense	probably damaging	1.00
R9211:Krt42	UTSW	11	100,155,867 (GRCm39)	missense	possibly damaging	0.52
R9265:Krt42	UTSW	11	100,157,808 (GRCm39)	missense	probably damaging	1.00
Z1177:Krt42	UTSW	11	100,157,894 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTTGGACAAGGTAGTACCCAGC -3'
(R):5'- GACTAGAAGCAACCCGTTTAGCCC -3'

Sequencing Primer
(F):5'- AGGTAGTACCCAGCCCAGC -3'
(R):5'- TTTAAGTCACACAGATGGGACC -3'

Posted On

2013-06-12