Mutagenetix > Incidental Mutation

Incidental Mutation 'R2349:Krt222'

247403

Institutional Source

Beutler Lab

Gene Symbol

Krt222

Ensembl Gene

ENSMUSG00000035849

Gene Name

keratin 222

Synonyms

6330509G02Rik

MMRRC Submission

040331-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R2349 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

99123587-99134911 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 99129591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038214] [ENSMUST00000103132]

AlphaFold

Q8CCX5

Predicted Effect

probably benign
Transcript: ENSMUST00000038214

SMART Domains

Protein: ENSMUSP00000044561
Gene: ENSMUSG00000035849

Domain	Start	End	E-Value	Type
Pfam:Filament	1	109	7.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103132

SMART Domains

Protein: ENSMUSP00000099421
Gene: ENSMUSG00000035849

Domain	Start	End	E-Value	Type
Pfam:Filament	1	149	2.9e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154622

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,415 (GRCm39)	K77E	probably damaging	Het
Arfgef2	T	A	2: 166,693,948 (GRCm39)	I507N	probably damaging	Het
Atg16l2	T	C	7: 100,945,746 (GRCm39)	K231E	probably damaging	Het
C1s1	C	A	6: 124,518,432 (GRCm39)		probably benign	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cntrl	A	G	2: 35,066,263 (GRCm39)	T1739A	probably benign	Het
Col15a1	G	A	4: 47,306,742 (GRCm39)	M289I	probably damaging	Het
Crebbp	G	A	16: 3,956,774 (GRCm39)	R350C	probably damaging	Het
Dbx2	A	G	15: 95,522,840 (GRCm39)	V289A	probably benign	Het
Esam	A	C	9: 37,439,527 (GRCm39)	Q4P	probably benign	Het
Galnt1	A	G	18: 24,413,085 (GRCm39)	M462V	probably benign	Het
Got1l1	T	C	8: 27,687,959 (GRCm39)	T357A	probably benign	Het
Gpr182	T	A	10: 127,586,806 (GRCm39)	K48N	probably damaging	Het
Hdlbp	A	G	1: 93,349,956 (GRCm39)		probably benign	Het
Ifi209	G	A	1: 173,470,122 (GRCm39)	V237M	probably damaging	Het
Igf2r	A	T	17: 12,941,198 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,279 (GRCm39)	M2520T	probably benign	Het
Nkx2-9	A	G	12: 56,659,007 (GRCm39)	L69P	probably benign	Het
Papss1	A	G	3: 131,305,627 (GRCm39)	D203G	probably benign	Het
Pex13	A	G	11: 23,605,789 (GRCm39)	M147T	probably damaging	Het
Pkd1l1	A	T	11: 8,776,819 (GRCm39)		probably null	Het
Rac2	A	G	15: 78,449,675 (GRCm39)	V85A	possibly damaging	Het
Rock2	A	G	12: 17,027,616 (GRCm39)	N127S	probably benign	Het
Sfswap	C	T	5: 129,646,802 (GRCm39)	R875C	possibly damaging	Het
Slco5a1	C	T	1: 12,991,376 (GRCm39)	V438M	probably damaging	Het
Thsd4	A	G	9: 59,879,798 (GRCm39)	Y620H	probably benign	Het
Trip4	T	C	9: 65,773,844 (GRCm39)	D246G	probably benign	Het
Usp10	T	C	8: 120,683,448 (GRCm39)	*88R	probably null	Het
Vars1	A	G	17: 35,234,728 (GRCm39)	I1186V	probably benign	Het
Vps13c	A	G	9: 67,864,808 (GRCm39)	D3039G	possibly damaging	Het
Wwp1	A	T	4: 19,638,644 (GRCm39)	N566K	possibly damaging	Het
Xpo6	A	T	7: 125,712,875 (GRCm39)	V701E	probably benign	Het

Other mutations in Krt222

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03377:Krt222	APN	11	99,127,339 (GRCm39)	nonsense	probably null
R0581:Krt222	UTSW	11	99,127,018 (GRCm39)	nonsense	probably null
R0674:Krt222	UTSW	11	99,127,086 (GRCm39)	missense	probably benign	0.37
R5073:Krt222	UTSW	11	99,134,796 (GRCm39)	start gained	probably benign
R5478:Krt222	UTSW	11	99,125,774 (GRCm39)	missense	probably damaging	1.00
R5512:Krt222	UTSW	11	99,125,781 (GRCm39)	missense	probably damaging	1.00
R6244:Krt222	UTSW	11	99,125,884 (GRCm39)	splice site	probably null
R9608:Krt222	UTSW	11	99,126,981 (GRCm39)	missense	probably damaging	0.99
R9645:Krt222	UTSW	11	99,131,320 (GRCm39)	missense	possibly damaging	0.82
R9680:Krt222	UTSW	11	99,127,065 (GRCm39)	missense	possibly damaging	0.62
R9778:Krt222	UTSW	11	99,125,838 (GRCm39)	missense	probably benign	0.17
Z1176:Krt222	UTSW	11	99,129,378 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTTCGTGTTGAGAAGCATC -3'
(R):5'- GTCCTCCTGAATACCTGAAGCAC -3'

Sequencing Primer
(F):5'- TGACTCCAGATCTTGCAG -3'
(R):5'- CAAAGAAGGTGGAGCTATAGGTG -3'

Posted On

2014-11-11