Mutagenetix > Incidental Mutation

Incidental Mutation 'R3768:Krtap12-1'

273121

Institutional Source

Beutler Lab

Gene Symbol

Krtap12-1

Ensembl Gene

ENSMUSG00000069583

Gene Name

keratin associated protein 12-1

Synonyms

D10Jhu14e

MMRRC Submission

040745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R3768 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77556433-77557088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77556729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 91 (V91L)

Ref Sequence

ENSEMBL: ENSMUSP00000090024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]

AlphaFold

Q9Z287

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092370
AA Change: V91L

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090024
Gene: ENSMUSG00000069583
AA Change: V91L

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	42	3.1e-6	PFAM
Pfam:Keratin_B2_2	20	68	3.1e-10	PFAM
Pfam:Keratin_B2_2	39	84	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179767

SMART Domains

Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	53	1.7e-8	PFAM
Pfam:Keratin_B2_2	29	74	1.8e-9	PFAM
low complexity region	88	106	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218482

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,204,217 (GRCm39)	R353G	probably benign	Het
Ank1	A	G	8: 23,606,202 (GRCm39)	D1153G	possibly damaging	Het
Ankrd12	T	C	17: 66,292,715 (GRCm39)	Y906C	probably benign	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Arid4a	A	G	12: 71,113,893 (GRCm39)	K160R	probably damaging	Het
Atp8a2	T	A	14: 60,281,785 (GRCm39)	H142L	probably benign	Het
B3gnt2	T	C	11: 22,786,765 (GRCm39)	K141R	probably damaging	Het
Btbd7	G	A	12: 102,761,451 (GRCm39)	P578L	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cmya5	A	T	13: 93,233,201 (GRCm39)	I629K	possibly damaging	Het
Cnga4	A	G	7: 105,056,887 (GRCm39)	N330S	probably damaging	Het
Cplx4	T	C	18: 66,102,998 (GRCm39)	T41A	probably benign	Het
Cxcl15	A	C	5: 90,949,303 (GRCm39)	D156A	unknown	Het
D630045J12Rik	A	G	6: 38,119,844 (GRCm39)	S1633P	probably damaging	Het
Dock10	T	A	1: 80,510,085 (GRCm39)	N1581I	probably damaging	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Dscaml1	T	A	9: 45,643,435 (GRCm39)	F1285I	possibly damaging	Het
Fgf10	G	T	13: 118,918,083 (GRCm39)	V124F	probably damaging	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Kctd19	T	C	8: 106,123,112 (GRCm39)	T101A	probably benign	Het
Klf3	A	G	5: 64,984,560 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,335,449 (GRCm39)	D1425N	probably benign	Het
Mgl2	T	C	11: 70,026,659 (GRCm39)	L128P	probably damaging	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Ncor2	A	G	5: 125,105,751 (GRCm39)	V1613A	probably damaging	Het
Nlgn2	C	T	11: 69,719,230 (GRCm39)	V207I	possibly damaging	Het
Or10v1	G	A	19: 11,873,676 (GRCm39)	G97D	probably damaging	Het
Or1ad6	A	G	11: 50,860,385 (GRCm39)	D180G	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Or4d10c	A	G	19: 12,065,304 (GRCm39)	I284T	probably damaging	Het
Osbpl3	G	A	6: 50,324,982 (GRCm39)	P172L	possibly damaging	Het
Pabpc4	T	A	4: 123,188,405 (GRCm39)	V338D	probably damaging	Het
Pdia6	T	C	12: 17,320,457 (GRCm39)	V32A	probably damaging	Het
Pik3c3	T	A	18: 30,466,326 (GRCm39)	S792R	probably damaging	Het
Pla2g5	C	G	4: 138,528,746 (GRCm39)	C70S	probably damaging	Het
Pole4	G	A	6: 82,599,095 (GRCm39)	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,740,027 (GRCm39)	L367F	probably damaging	Het
Ptpru	C	T	4: 131,535,735 (GRCm39)	C414Y	probably damaging	Het
Rhot2	T	C	17: 26,059,521 (GRCm39)	D407G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sap25	T	A	5: 137,640,632 (GRCm39)	F171I	probably damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Tarm1	A	T	7: 3,546,097 (GRCm39)	S69T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp36	T	C	11: 118,153,878 (GRCm39)	K846R	probably damaging	Het
Zfp229	A	T	17: 21,964,844 (GRCm39)	H358L	probably damaging	Het
Zfp747l1	A	G	7: 126,984,035 (GRCm39)		probably benign	Het

Other mutations in Krtap12-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Krtap12-1	APN	10	77,556,814 (GRCm39)	missense	possibly damaging	0.73
IGL02005:Krtap12-1	APN	10	77,556,823 (GRCm39)	missense	probably damaging	0.98
R1739:Krtap12-1	UTSW	10	77,556,826 (GRCm39)	missense	possibly damaging	0.79
R3767:Krtap12-1	UTSW	10	77,556,729 (GRCm39)	missense	probably benign	0.07
R3770:Krtap12-1	UTSW	10	77,556,729 (GRCm39)	missense	probably benign	0.07
R5284:Krtap12-1	UTSW	10	77,556,799 (GRCm39)	missense	possibly damaging	0.73
R6654:Krtap12-1	UTSW	10	77,556,537 (GRCm39)	unclassified	probably benign
R9128:Krtap12-1	UTSW	10	77,556,623 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCCATCCTGTTGTGTGTC -3'
(R):5'- TCAAGTTGAACAGGTTGTGAGAC -3'

Sequencing Primer
(F):5'- GTGTGTCTAGTCCCTGCCAG -3'
(R):5'- TGAGACAGCAAGTGTGTCCCATC -3'

Posted On

2015-03-25