Mutagenetix > Incidental Mutation

Incidental Mutation 'R9113:Krt12'

692373

Institutional Source

Beutler Lab

Gene Symbol

Krt12

Ensembl Gene

ENSMUSG00000020912

Gene Name

keratin 12

Synonyms

K12, Krt1-12

MMRRC Submission

068920-MU

Accession Numbers

Essential gene?

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

Stock #

R9113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99306492-99313085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99309378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 294 (M294T)

Ref Sequence

ENSEMBL: ENSMUSP00000017741 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000017741
AA Change: M294T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017741
Gene: ENSMUSG00000020912
AA Change: M294T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,591,656 (GRCm39)	I791F	probably damaging	Het
Adamts15	A	G	9: 30,822,498 (GRCm39)	M389T	probably damaging	Het
Adgrb2	G	A	4: 129,910,877 (GRCm39)	V1065M	probably damaging	Het
Agbl1	C	A	7: 76,239,225 (GRCm39)	A827E	unknown	Het
Alox5ap	T	C	5: 149,216,015 (GRCm39)	F67S	probably damaging	Het
Ankrd11	T	C	8: 123,614,072 (GRCm39)	N2566S	possibly damaging	Het
Arhgap10	T	C	8: 77,985,701 (GRCm39)	D722G	probably damaging	Het
Atp5mf	A	G	5: 145,128,315 (GRCm39)	L4P	probably benign	Het
Bean1	T	C	8: 104,940,557 (GRCm39)	V130A	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdhr2	A	G	13: 54,882,700 (GRCm39)	D1222G	probably benign	Het
Chrm4	T	A	2: 91,758,075 (GRCm39)	V161E	probably benign	Het
Ckap5	T	C	2: 91,426,144 (GRCm39)	S1335P	probably damaging	Het
Col11a1	T	A	3: 113,888,192 (GRCm39)	Y267*	probably null	Het
Col14a1	T	C	15: 55,201,825 (GRCm39)	Y38H	unknown	Het
Coro2a	C	T	4: 46,563,047 (GRCm39)	G36S		Het
Ctsc	A	T	7: 87,959,104 (GRCm39)	K461N	possibly damaging	Het
Dcaf1	A	G	9: 106,712,831 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,880,713 (GRCm39)	I2628T	probably damaging	Het
Dnajb5	T	C	4: 42,953,233 (GRCm39)	I20T	probably damaging	Het
Dus2	C	T	8: 106,775,333 (GRCm39)	Q287*	probably null	Het
Fbxl17	A	G	17: 63,532,085 (GRCm39)	V586A	probably benign	Het
Glg1	A	T	8: 111,887,452 (GRCm39)		probably benign	Het
Gm4924	G	A	10: 82,214,113 (GRCm39)	C637Y	unknown	Het
Gorasp1	A	G	9: 119,757,442 (GRCm39)	F310S	probably damaging	Het
Gsta5	A	T	9: 78,212,667 (GRCm39)	I213F	probably benign	Het
Igfn1	G	A	1: 135,883,328 (GRCm39)	T2726I	probably damaging	Het
Inppl1	G	T	7: 101,475,231 (GRCm39)	P940Q	probably benign	Het
Klk1b22	G	A	7: 43,765,692 (GRCm39)	V183M	possibly damaging	Het
Krtap6-2	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	16: 89,216,613 (GRCm39)		probably benign	Het
Lep	T	C	6: 29,071,093 (GRCm39)	L139P	probably damaging	Het
Ltn1	T	C	16: 87,224,532 (GRCm39)	D64G	probably damaging	Het
Lyzl1	C	T	18: 4,168,604 (GRCm39)	A28V	probably null	Het
Mcam	T	C	9: 44,051,693 (GRCm39)	V483A	probably benign	Het
Mia2	C	T	12: 59,217,053 (GRCm39)		probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Pde10a	A	G	17: 9,197,782 (GRCm39)	T742A	probably benign	Het
Rapgef4	A	G	2: 71,861,493 (GRCm39)	Y61C	probably benign	Het
Ryr2	A	T	13: 11,618,741 (GRCm39)		probably benign	Het
Setbp1	G	T	18: 78,900,948 (GRCm39)	H906Q	probably damaging	Het
Slc12a4	A	G	8: 106,670,984 (GRCm39)	V1032A	probably benign	Het
Slc6a15	T	C	10: 103,236,140 (GRCm39)	M285T	probably damaging	Het
Spata31h1	G	A	10: 82,131,352 (GRCm39)	Q553*	probably null	Het
Steap2	A	G	5: 5,727,475 (GRCm39)	Y287H	probably damaging	Het
Tas2r135	T	G	6: 42,383,315 (GRCm39)	F285V	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,618,538 (GRCm39)	T16249A	probably benign	Het
Usp8	A	G	2: 126,579,343 (GRCm39)	T299A	probably benign	Het
Vmn2r101	A	G	17: 19,811,288 (GRCm39)	I457M	possibly damaging	Het
Vps41	A	G	13: 19,023,883 (GRCm39)	E437G	probably benign	Het
Zfp638	A	T	6: 83,953,894 (GRCm39)	E1333V	probably 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
R5592:Krt12	UTSW	11	99,311,650 (GRCm39)	missense	probably benign	0.00
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
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

PCR Primer
(F):5'- TGCTGATCTCTTTTCGGAGC -3'
(R):5'- TGTTCTAGAAGCAGAGCCAGC -3'

Sequencing Primer
(F):5'- CTCTCTGCTCTGCAACAGCAAAG -3'
(R):5'- TGGAGCCCCTGATCACTCAAG -3'

Posted On

2021-12-30