Mutagenetix > Incidental Mutation

Incidental Mutation 'R8876:Krtap9-5'

676590

Institutional Source

Beutler Lab

Gene Symbol

Krtap9-5

Ensembl Gene

ENSMUSG00000078255

Gene Name

keratin associated protein 9-5

Synonyms

OTTMUSG00000002205

MMRRC Submission

068688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8876 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99839301-99840377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99840340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 347 (C347F)

Ref Sequence

ENSEMBL: ENSMUSP00000100673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105052]

AlphaFold

A2A5X3

Predicted Effect

unknown
Transcript: ENSMUST00000105052
AA Change: C347F

SMART Domains

Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: C347F

Domain	Start	End	E-Value	Type
internal_repeat_3	4	21	5.14e-6	PROSPERO
internal_repeat_2	5	26	9e-8	PROSPERO
low complexity region	37	48	N/A	INTRINSIC
Pfam:Keratin_B2_2	52	94	2.7e-9	PFAM
Pfam:Keratin_B2_2	75	128	2e-5	PFAM
Pfam:Keratin_B2_2	125	169	1.7e-9	PFAM
Pfam:Keratin_B2_2	198	245	6.7e-9	PFAM
Pfam:Keratin_B2_2	241	288	1.1e-8	PFAM
Pfam:Keratin_B2_2	284	317	5.6e-7	PFAM
Pfam:Keratin_B2_2	313	357	1.5e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	C	2: 93,668,403 (GRCm39)	L356R	probably damaging	Het
Acvr1	A	T	2: 58,338,422 (GRCm39)	D433E	possibly damaging	Het
Aldh3b1	A	G	19: 3,971,502 (GRCm39)	L122P	probably damaging	Het
Ap3b1	T	G	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Apbb2	A	G	5: 66,609,000 (GRCm39)	S216P	probably benign	Het
Arap3	T	A	18: 38,130,077 (GRCm39)	H28L	possibly damaging	Het
Arhgap44	C	T	11: 64,898,896 (GRCm39)	M760I	possibly damaging	Het
Arhgef19	G	T	4: 140,975,193 (GRCm39)	A304S	probably benign	Het
Atpaf1	T	C	4: 115,645,548 (GRCm39)	I139T	possibly damaging	Het
BC024139	G	T	15: 76,010,320 (GRCm39)	T62K	possibly damaging	Het
Bmal2	G	A	6: 146,723,492 (GRCm39)	G274D	probably benign	Het
Capn5	T	C	7: 97,780,902 (GRCm39)	T292A	probably benign	Het
Card19	T	C	13: 49,358,814 (GRCm39)	N53S	possibly damaging	Het
Cep97	A	G	16: 55,742,467 (GRCm39)	V232A	possibly damaging	Het
Cfap298	A	G	16: 90,724,281 (GRCm39)	I164T	possibly damaging	Het
Clca3a2	G	T	3: 144,777,360 (GRCm39)	T837K	probably benign	Het
Col8a2	G	C	4: 126,204,647 (GRCm39)	G219A	probably damaging	Het
Ctu2	T	C	8: 123,206,951 (GRCm39)	S365P		Het
Dnah2	T	C	11: 69,382,348 (GRCm39)	D1254G	probably damaging	Het
Dscam	A	G	16: 96,420,828 (GRCm39)	L1686S	probably damaging	Het
Fgr	A	G	4: 132,726,071 (GRCm39)		probably benign	Het
Frmd4a	T	A	2: 4,606,111 (GRCm39)	S612T	probably damaging	Het
Gadd45gip1	T	C	8: 85,560,748 (GRCm39)	I121T	probably damaging	Het
Gapvd1	A	G	2: 34,568,560 (GRCm39)	V1353A	possibly damaging	Het
Gdf3	G	A	6: 122,583,942 (GRCm39)	P142S	probably damaging	Het
Gm19965	G	A	1: 116,749,776 (GRCm39)	G486R	unknown	Het
Gpatch2l	T	C	12: 86,308,405 (GRCm39)	L307P	probably damaging	Het
Grm3	T	C	5: 9,561,580 (GRCm39)	K757E	probably damaging	Het
Inppl1	T	A	7: 101,472,750 (GRCm39)	H1218L	possibly damaging	Het
Jag2	T	C	12: 112,873,257 (GRCm39)	I1055V	probably benign	Het
Magi2	T	A	5: 20,856,190 (GRCm39)	Y1050*	probably null	Het
Myrf	A	G	19: 10,206,378 (GRCm39)		probably benign	Het
Ntpcr	T	G	8: 126,464,785 (GRCm39)		probably benign	Het
Or13a19	T	C	7: 139,902,716 (GRCm39)	Y35H	probably damaging	Het
Or1p1b	C	T	11: 74,130,846 (GRCm39)	T152I	probably damaging	Het
Or2y1c	T	C	11: 49,361,386 (GRCm39)	M136T	probably damaging	Het
Palmd	T	G	3: 116,720,899 (GRCm39)	D145A	probably damaging	Het
Pdcd1	A	G	1: 93,980,155 (GRCm39)	S21P	probably benign	Het
Pkn1	T	C	8: 84,398,879 (GRCm39)	T696A	possibly damaging	Het
Pnpt1	T	A	11: 29,096,769 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 110,049,146 (GRCm39)	I273F	probably damaging	Het
Skic3	T	G	13: 76,323,403 (GRCm39)	D1382E	probably benign	Het
Slc16a4	A	T	3: 107,208,101 (GRCm39)	N204Y	probably benign	Het
Slc38a1	T	C	15: 96,514,091 (GRCm39)	I44V	possibly damaging	Het
Smpdl3a	T	C	10: 57,685,166 (GRCm39)	V312A	probably damaging	Het
Ston1	A	G	17: 88,942,600 (GRCm39)	Y2C	probably benign	Het
Syde1	A	T	10: 78,425,325 (GRCm39)	Y229N	probably damaging	Het
Ttc6	T	A	12: 57,784,489 (GRCm39)	C1853S	possibly damaging	Het
Ttn	A	G	2: 76,609,249 (GRCm39)	I17650T	possibly damaging	Het
Upf1	T	C	8: 70,796,918 (GRCm39)	E105G	possibly damaging	Het
Wrn	A	G	8: 33,814,422 (GRCm39)	W341R	probably benign	Het
Xndc1	C	T	7: 101,729,754 (GRCm39)	P267L	probably benign	Het
Zbtb26	T	C	2: 37,326,896 (GRCm39)	T47A	probably benign	Het
Zc3h10	A	T	10: 128,380,163 (GRCm39)	V398E	probably damaging	Het
Zfp652	G	T	11: 95,639,921 (GRCm39)		probably benign	Het

Other mutations in Krtap9-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Krtap9-5	APN	11	99,839,291 (GRCm39)	unclassified	probably benign
IGL01105:Krtap9-5	APN	11	99,839,459 (GRCm39)	missense	unknown
IGL01673:Krtap9-5	APN	11	99,840,377 (GRCm39)	makesense	probably null
IGL02931:Krtap9-5	APN	11	99,839,931 (GRCm39)	missense	unknown
IGL03340:Krtap9-5	APN	11	99,839,427 (GRCm39)	missense	possibly damaging	0.86
R0038:Krtap9-5	UTSW	11	99,839,428 (GRCm39)	missense	possibly damaging	0.86
R1067:Krtap9-5	UTSW	11	99,839,589 (GRCm39)	missense	unknown
R2051:Krtap9-5	UTSW	11	99,840,030 (GRCm39)	missense	unknown
R2102:Krtap9-5	UTSW	11	99,840,270 (GRCm39)	missense	unknown
R4689:Krtap9-5	UTSW	11	99,840,286 (GRCm39)	missense	unknown
R5076:Krtap9-5	UTSW	11	99,840,294 (GRCm39)	missense	unknown
R5807:Krtap9-5	UTSW	11	99,839,895 (GRCm39)	missense	unknown
R7468:Krtap9-5	UTSW	11	99,840,132 (GRCm39)	missense	unknown
R7485:Krtap9-5	UTSW	11	99,839,800 (GRCm39)	missense	unknown
R9727:Krtap9-5	UTSW	11	99,839,340 (GRCm39)	missense	possibly damaging	0.71
X0050:Krtap9-5	UTSW	11	99,839,767 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTGTGACCAGCTGCTACAG -3'
(R):5'- TGTCTCTGAAGCCAGCACATG -3'

Sequencing Primer
(F):5'- TGCTACAGCCCACCATGC -3'
(R):5'- GAGAGAGAGGCCTTACATCCC -3'

Posted On

2021-07-15