Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Krt12'

507664

Institutional Source

Beutler Lab

Gene Symbol

Krt12

Ensembl Gene

ENSMUSG00000020912

Gene Name

keratin 12

Synonyms

K12, Krt1-12

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

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

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99306492-99313085 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99312728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 105 (C105*)

Ref Sequence

ENSEMBL: ENSMUSP00000017741 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000017741
AA Change: C105*

SMART Domains

Protein: ENSMUSP00000017741
Gene: ENSMUSG00000020912
AA Change: C105*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,874 (GRCm39)	D364E	probably benign	Het
Adra2c	C	T	5: 35,437,423 (GRCm39)	T65I	probably damaging	Het
Agap2	T	A	10: 126,925,229 (GRCm39)		probably null	Het
Ager	T	C	17: 34,817,728 (GRCm39)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,621,736 (GRCm39)	I288M	probably benign	Het
Arhgap45	A	T	10: 79,862,068 (GRCm39)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm39)	Y426C	probably damaging	Het
Azi2	C	T	9: 117,878,406 (GRCm39)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,778,567 (GRCm39)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,506,338 (GRCm39)	I701S	probably damaging	Het
Ccnq	T	C	11: 78,642,056 (GRCm39)	K145E	probably damaging	Het
Cd55b	T	A	1: 130,345,903 (GRCm39)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,718,647 (GRCm39)	E199G	probably benign	Het
Cntnap4	A	T	8: 113,478,921 (GRCm39)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,761,858 (GRCm39)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,214,636 (GRCm39)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,579,458 (GRCm39)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,378,022 (GRCm39)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,650,446 (GRCm39)	Y145*	probably null	Het
Fsip2	A	T	2: 82,810,785 (GRCm39)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,989,612 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,941,802 (GRCm39)	Y627*	probably null	Het
Gm6811	T	A	17: 21,314,245 (GRCm39)		noncoding transcript	Het
Gm6811	T	G	17: 21,314,952 (GRCm39)		noncoding transcript	Het
H2-M1	G	A	17: 36,982,602 (GRCm39)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,720,347 (GRCm39)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,614,432 (GRCm39)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,707,826 (GRCm39)	Y89*	probably null	Het
Itga1	T	C	13: 115,117,388 (GRCm39)	E871G	probably benign	Het
Kat6a	T	C	8: 23,429,421 (GRCm39)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,500,979 (GRCm39)	A756E	probably benign	Het
Lama1	G	A	17: 68,091,083 (GRCm39)		probably null	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lrrk1	A	G	7: 65,956,587 (GRCm39)		probably null	Het
Lypd9	T	A	11: 58,337,192 (GRCm39)	I94L	possibly damaging	Het
Map2	T	C	1: 66,438,578 (GRCm39)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,757,549 (GRCm39)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,959,508 (GRCm39)	S1430T	probably benign	Het
Notch3	G	A	17: 32,373,723 (GRCm39)	T495I	probably benign	Het
Or1e31	A	T	11: 73,690,229 (GRCm39)	M118K	probably damaging	Het
Palld	C	T	8: 61,966,457 (GRCm39)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,966,666 (GRCm39)	I620N	probably damaging	Het
Pcdha6	A	G	18: 37,102,820 (GRCm39)		probably null	Het
Pcdhb11	G	A	18: 37,554,813 (GRCm39)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,840,697 (GRCm39)	E139G	probably benign	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phactr3	G	A	2: 177,920,812 (GRCm39)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,153,684 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,206,076 (GRCm39)	H278R	probably benign	Het
Rspry1	T	A	8: 95,349,886 (GRCm39)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Smn1	A	G	13: 100,264,503 (GRCm39)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,046,078 (GRCm39)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tbck	A	G	3: 132,448,766 (GRCm39)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,606,687 (GRCm39)	F422L	probably benign	Het
Tex15	T	A	8: 34,067,217 (GRCm39)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,225,441 (GRCm39)	E846G	probably benign	Het
Ttc41	T	C	10: 86,580,313 (GRCm39)	I753T	probably benign	Het
Vdac1	C	T	11: 52,267,309 (GRCm39)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 20,994,104 (GRCm39)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,368,465 (GRCm39)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,493,730 (GRCm39)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,570,318 (GRCm39)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,671,732 (GRCm39)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 32,831,482 (GRCm39)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,345,604 (GRCm39)		probably null	Het
Zscan2	A	G	7: 80,525,557 (GRCm39)	N426S	probably benign	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
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

PCR Primer
(F):5'- GTAATCACTCTGAGACCCAGCG -3'
(R):5'- ATCTGCTTCTAGTGTTGCCG -3'

Sequencing Primer
(F):5'- AGCGTCTCTGGTTCTCCGTG -3'
(R):5'- TATGGGGGATCGGCCTC -3'

Posted On

2018-03-15