Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Krtap4-13'

534727

Institutional Source

Beutler Lab

Gene Symbol

Krtap4-13

Ensembl Gene

ENSMUSG00000048294

Gene Name

keratin associated protein 4-13

Synonyms

2300006N05Rik

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6845 (G1)

Quality Score

116.008

Status

Validated

Chromosome

Chromosomal Location

99699904-99700718 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 99700192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050106] [ENSMUST00000105056]

AlphaFold

Q9D7P3

Predicted Effect

unknown
Transcript: ENSMUST00000050106
AA Change: R156C

SMART Domains

Protein: ENSMUSP00000053810
Gene: ENSMUSG00000048294
AA Change: R156C

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	43	1.3e-9	PFAM
Pfam:Keratin_B2	1	80	7.3e-10	PFAM
Pfam:Keratin_B2_2	14	58	6.4e-14	PFAM
Pfam:Keratin_B2_2	24	68	7.8e-15	PFAM
Pfam:Keratin_B2_2	39	83	9.1e-15	PFAM
Pfam:Keratin_B2_2	54	98	1.3e-14	PFAM
Pfam:Keratin_B2_2	64	107	1.1e-14	PFAM
Pfam:Keratin_B2_2	99	143	1.3e-12	PFAM
Pfam:Keratin_B2_2	124	165	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105056

SMART Domains

Protein: ENSMUSP00000100677
Gene: ENSMUSG00000078259

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	52	7.4e-9	PFAM
Pfam:Keratin_B2	1	122	3.8e-11	PFAM
Pfam:Keratin_B2_2	34	78	8.9e-14	PFAM
Pfam:Keratin_B2_2	74	117	2.5e-12	PFAM
Pfam:Keratin_B2_2	109	157	2.5e-7	PFAM
Pfam:Keratin_B2_2	149	190	5.8e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	Het

Other mutations in Krtap4-13

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00401:Krtap4-13	APN	11	99,700,543 (GRCm39)	missense	unknown
R4632:Krtap4-13	UTSW	11	99,700,354 (GRCm39)	missense	unknown
R7284:Krtap4-13	UTSW	11	99,700,238 (GRCm39)	nonsense	probably null
R8118:Krtap4-13	UTSW	11	99,700,224 (GRCm39)	missense	unknown
R9180:Krtap4-13	UTSW	11	99,700,165 (GRCm39)	missense	unknown
R9722:Krtap4-13	UTSW	11	99,700,180 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTAAACAGATACTAAGCAGGCTGG -3'
(R):5'- TGCATTTCCAGCTGCTGCAG -3'

Sequencing Primer
(F):5'- TACTAAGCAGGCTGGAGTGTG -3'
(R):5'- CCCAGCTGTTGTGTGTCCAG -3'

Posted On

2018-09-12