Mutagenetix > Incidental Mutation

Incidental Mutation 'R5592:Krt12'

437582

Institutional Source

Beutler Lab

Gene Symbol

Krt12

Ensembl Gene

ENSMUSG00000020912

Gene Name

keratin 12

Synonyms

K12, Krt1-12

MMRRC Submission

043144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5592 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99306492-99313085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99311650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 184 (V184I)

Ref Sequence

ENSEMBL: ENSMUSP00000017741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017741]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000017741
AA Change: V184I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000017741
Gene: ENSMUSG00000020912
AA Change: V184I

Domain	Start	End	E-Value	Type
low complexity region	26	69	N/A	INTRINSIC
low complexity region	73	104	N/A	INTRINSIC
Filament	118	432	1.87e-153	SMART
low complexity region	474	486	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139095

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants display abnormal and fragile corneal epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	A	T	1: 85,654,332 (GRCm39)	F2I	probably damaging	Het
Adam17	C	T	12: 21,384,138 (GRCm39)	S454N	probably damaging	Het
Adcy1	A	T	11: 7,089,088 (GRCm39)	K501*	probably null	Het
Arhgap28	A	T	17: 68,165,267 (GRCm39)	M543K	probably damaging	Het
Art3	T	A	5: 92,540,679 (GRCm39)	Y141N	probably damaging	Het
Ccdc38	C	T	10: 93,386,064 (GRCm39)	T60I	possibly damaging	Het
Crmp1	A	C	5: 37,422,609 (GRCm39)	I139L	probably benign	Het
Cul9	G	A	17: 46,831,517 (GRCm39)	L1566F	probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Drd1	A	T	13: 54,208,190 (GRCm39)	M1K	probably null	Het
Flii	T	G	11: 60,611,225 (GRCm39)	M449L	probably benign	Het
Galnt16	T	C	12: 80,635,293 (GRCm39)	V343A	probably damaging	Het
Gimap4	A	T	6: 48,668,092 (GRCm39)	E154D	probably damaging	Het
Glmp	T	G	3: 88,233,333 (GRCm39)		probably benign	Het
Glt1d1	A	T	5: 127,734,183 (GRCm39)	D119V	probably benign	Het
Gm5930	C	T	14: 44,568,886 (GRCm39)	M245I	probably benign	Het
Golgb1	T	A	16: 36,746,125 (GRCm39)	H2901Q	probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mier3	T	A	13: 111,843,195 (GRCm39)	Y182*	probably null	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mmp25	A	G	17: 23,859,176 (GRCm39)	V157A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ms4a6c	A	G	19: 11,458,496 (GRCm39)		probably benign	Het
Ms4a6c	A	G	19: 11,457,641 (GRCm39)		probably benign	Het
Muc19	T	C	15: 91,828,199 (GRCm39)		noncoding transcript	Het
Mucl3	T	C	17: 35,954,535 (GRCm39)	Y9C	probably damaging	Het
Mycbp2	C	A	14: 103,432,113 (GRCm39)	M2308I	probably benign	Het
Myo1a	G	T	10: 127,549,908 (GRCm39)	V463F	probably damaging	Het
Ogdh	A	T	11: 6,266,763 (GRCm39)		probably null	Het
Or52h9	A	T	7: 104,202,938 (GRCm39)	N271Y	probably benign	Het
Or5l14	A	G	2: 87,792,684 (GRCm39)	L184P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paip1	C	A	13: 119,587,334 (GRCm39)	D124E	probably damaging	Het
Pdcd11	T	A	19: 47,091,164 (GRCm39)	N379K	probably benign	Het
Pitpnm2	T	C	5: 124,280,212 (GRCm39)	E112G	probably damaging	Het
Prrg4	T	C	2: 104,663,123 (GRCm39)	Y161C	probably benign	Het
Rb1	A	G	14: 73,449,187 (GRCm39)	Y648H	probably damaging	Het
Rpa3	A	T	6: 8,257,694 (GRCm39)	M56K	probably benign	Het
Scarf1	A	T	11: 75,416,513 (GRCm39)	T652S	probably benign	Het
Slc16a5	A	G	11: 115,363,608 (GRCm39)	K423R	probably benign	Het
Sptan1	C	T	2: 29,876,731 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,875,863 (GRCm39)	I574T	probably benign	Het
Synm	A	G	7: 67,409,264 (GRCm39)	L38P	probably damaging	Het
Ubqln4	T	G	3: 88,464,171 (GRCm39)	M224R	probably damaging	Het
Uroc1	A	G	6: 90,332,326 (GRCm39)	N561S	probably damaging	Het
Vav1	A	G	17: 57,611,835 (GRCm39)	Y483C	probably benign	Het
Vps13a	G	A	19: 16,702,935 (GRCm39)	L673F	probably damaging	Het
Zfp418	G	T	7: 7,184,314 (GRCm39)	K92N	possibly damaging	Het

Other mutations in Krt12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02968:Krt12	APN	11	99,308,843 (GRCm39)	missense	probably damaging	0.98
R0348:Krt12	UTSW	11	99,308,771 (GRCm39)	missense	probably damaging	1.00
R1104:Krt12	UTSW	11	99,312,792 (GRCm39)	missense	unknown
R1662:Krt12	UTSW	11	99,311,650 (GRCm39)	missense	probably benign	0.42
R1763:Krt12	UTSW	11	99,306,886 (GRCm39)	missense	probably damaging	1.00
R1886:Krt12	UTSW	11	99,309,402 (GRCm39)	missense	probably damaging	1.00
R2087:Krt12	UTSW	11	99,309,459 (GRCm39)	missense	probably damaging	0.98
R3859:Krt12	UTSW	11	99,309,319 (GRCm39)	missense	possibly damaging	0.90
R3942:Krt12	UTSW	11	99,312,922 (GRCm39)	missense	unknown
R4030:Krt12	UTSW	11	99,312,854 (GRCm39)	missense	unknown
R4061:Krt12	UTSW	11	99,306,841 (GRCm39)	missense	unknown
R4672:Krt12	UTSW	11	99,309,509 (GRCm39)	intron	probably benign
R4867:Krt12	UTSW	11	99,307,789 (GRCm39)	missense	possibly damaging	0.90
R4907:Krt12	UTSW	11	99,309,188 (GRCm39)	missense	probably damaging	1.00
R6276:Krt12	UTSW	11	99,312,728 (GRCm39)	nonsense	probably null
R6326:Krt12	UTSW	11	99,307,745 (GRCm39)	missense	probably benign
R7108:Krt12	UTSW	11	99,306,878 (GRCm39)	missense	unknown
R7144:Krt12	UTSW	11	99,306,839 (GRCm39)	makesense	probably null
R7524:Krt12	UTSW	11	99,310,485 (GRCm39)	missense	probably damaging	1.00
R7769:Krt12	UTSW	11	99,308,852 (GRCm39)	missense	probably damaging	1.00
R7813:Krt12	UTSW	11	99,309,309 (GRCm39)	critical splice donor site	probably null
R9063:Krt12	UTSW	11	99,307,757 (GRCm39)	missense	probably benign	0.03
R9113:Krt12	UTSW	11	99,309,378 (GRCm39)	missense	probably damaging	1.00
R9656:Krt12	UTSW	11	99,309,471 (GRCm39)	missense
X0026:Krt12	UTSW	11	99,310,410 (GRCm39)	missense	probably damaging	1.00
Z1176:Krt12	UTSW	11	99,311,587 (GRCm39)	nonsense	probably null
Z1177:Krt12	UTSW	11	99,312,930 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2016-10-26