Mutagenetix > Incidental Mutation

Incidental Mutation 'R0988:Krtap4-9'

97407

Institutional Source

Beutler Lab

Gene Symbol

Krtap4-9

Ensembl Gene

ENSMUSG00000078262

Gene Name

keratin associated protein 4-9

Synonyms

OTTMUSG00000002198

MMRRC Submission

039108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0988 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

99676026-99677083 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99676362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 94 (C94*)

Ref Sequence

ENSEMBL: ENSMUSP00000100680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105059] [ENSMUST00000107439]

AlphaFold

B1AQA9

Predicted Effect

probably null
Transcript: ENSMUST00000105059
AA Change: C94*

SMART Domains

Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: C94*

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	1.2e-8	PFAM
Pfam:Keratin_B2_2	14	58	4.4e-13	PFAM
Pfam:Keratin_B2_2	54	102	3e-10	PFAM
Pfam:Keratin_B2_2	87	132	8.4e-12	PFAM
Pfam:Keratin_B2_2	98	147	3.4e-9	PFAM
Pfam:Keratin_B2_2	138	182	3.1e-12	PFAM
Pfam:Keratin_B2_2	178	222	4.8e-12	PFAM
Pfam:Keratin_B2_2	203	244	4.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107439

SMART Domains

Protein: ENSMUSP00000103063
Gene: ENSMUSG00000089724

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	14	58	1.8e-13	PFAM
Pfam:Keratin_B2_2	54	98	6.7e-15	PFAM
Pfam:Keratin_B2_2	94	138	9.5e-15	PFAM
Pfam:Keratin_B2_2	138	182	1.5e-12	PFAM
Pfam:Keratin_B2_2	168	209	8.2e-9	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,896,310 (GRCm39)	I340V	probably benign	Het
Ano1	T	G	7: 144,187,390 (GRCm39)	S459R	possibly damaging	Het
Cop1	T	C	1: 159,060,417 (GRCm39)	V67A	possibly damaging	Het
Cop1	A	G	1: 159,072,242 (GRCm39)	Y186C	probably damaging	Het
Cst11	G	A	2: 148,612,346 (GRCm39)	T97I	probably benign	Het
Ephb2	T	A	4: 136,387,019 (GRCm39)	Y736F	possibly damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hpn	T	C	7: 30,799,323 (GRCm39)	Y271C	possibly damaging	Het
Kmt2a	A	G	9: 44,759,846 (GRCm39)	S668P	probably benign	Het
Lgmn	T	C	12: 102,364,536 (GRCm39)	D311G	probably damaging	Het
Macroh2a1	T	C	13: 56,231,109 (GRCm39)		probably null	Het
Mfsd14b	T	C	13: 65,260,307 (GRCm39)		probably benign	Het
Micu1	C	A	10: 59,592,549 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,425,532 (GRCm39)	I4726V	probably benign	Het
Nadk2	T	A	15: 9,103,080 (GRCm39)	N310K	probably damaging	Het
Napg	T	C	18: 63,116,431 (GRCm39)		probably benign	Het
Nav3	G	A	10: 109,552,389 (GRCm39)	R1818W	probably damaging	Het
Ntpcr	T	C	8: 126,464,170 (GRCm39)		probably benign	Het
Or1j13	T	C	2: 36,369,779 (GRCm39)	D121G	probably damaging	Het
Or51af1	T	A	7: 103,141,954 (GRCm39)	I44F	probably damaging	Het
Or5b99	A	G	19: 12,977,151 (GRCm39)	D267G	probably benign	Het
Or6c214	A	G	10: 129,590,866 (GRCm39)	V151A	probably benign	Het
Pdia2	A	G	17: 26,417,803 (GRCm39)	F69L	probably damaging	Het
Pik3r4	A	G	9: 105,564,404 (GRCm39)	T1333A	probably damaging	Het
Platr26	A	T	2: 71,553,631 (GRCm39)		noncoding transcript	Het
Proc	T	C	18: 32,266,536 (GRCm39)	D97G	probably benign	Het
Ptpn23	C	T	9: 110,217,845 (GRCm39)	R700H	probably benign	Het
Rragc	T	A	4: 123,818,575 (GRCm39)		probably null	Het
Serac1	A	T	17: 6,111,855 (GRCm39)	F244I	probably benign	Het
Snrpd3	A	G	10: 75,368,039 (GRCm39)	D52G	probably damaging	Het
Thrb	G	T	14: 17,981,837 (GRCm38)		probably benign	Het
Ttc6	T	C	12: 57,735,435 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,401 (GRCm39)	C286S	probably benign	Het

Other mutations in Krtap4-9

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01949:Krtap4-9	APN	11	99,676,391 (GRCm39)	unclassified	probably benign
IGL02697:Krtap4-9	APN	11	99,676,574 (GRCm39)	missense	unknown
IGL03176:Krtap4-9	APN	11	99,676,106 (GRCm39)	unclassified	probably benign
R1773:Krtap4-9	UTSW	11	99,676,396 (GRCm39)	unclassified	probably benign
R1838:Krtap4-9	UTSW	11	99,676,222 (GRCm39)	unclassified	probably benign
R2566:Krtap4-9	UTSW	11	99,676,492 (GRCm39)	unclassified	probably benign
R2888:Krtap4-9	UTSW	11	99,676,245 (GRCm39)	nonsense	probably null
R3757:Krtap4-9	UTSW	11	99,676,444 (GRCm39)	unclassified	probably benign
R4633:Krtap4-9	UTSW	11	99,676,380 (GRCm39)	unclassified	probably benign
R5930:Krtap4-9	UTSW	11	99,676,462 (GRCm39)	unclassified	probably benign
R6092:Krtap4-9	UTSW	11	99,676,481 (GRCm39)	unclassified	probably benign
R6501:Krtap4-9	UTSW	11	99,676,255 (GRCm39)	unclassified	probably benign
R6934:Krtap4-9	UTSW	11	99,676,708 (GRCm39)	nonsense	probably null
R7131:Krtap4-9	UTSW	11	99,676,283 (GRCm39)	missense	unknown
R8809:Krtap4-9	UTSW	11	99,676,454 (GRCm39)	missense	unknown
RF017:Krtap4-9	UTSW	11	99,676,225 (GRCm39)	unclassified	probably benign
RF023:Krtap4-9	UTSW	11	99,676,217 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCAGACTACCTGCTGTAGGAC -3'
(R):5'- CTAGAGCATGATGGGCGGCAAC -3'

Sequencing Primer
(F):5'- GCTGTAGGACCACCTGCTG -3'
(R):5'- agctggagatgcagcac -3'

Posted On

2014-01-05