Mutagenetix > Incidental Mutations

Incidental Mutation 'R2888:Krtap4-9'

260005

Institutional Source

Beutler Lab

Gene Symbol

Krtap4-9

Ensembl Gene

ENSMUSG00000078262

Gene Name

keratin associated protein 4-9

Synonyms

OTTMUSG00000002198

MMRRC Submission

040476-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R2888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99785200-99786258 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 99785419 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 55 (C55*)

Ref Sequence

ENSEMBL: ENSMUSP00000100680 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000105059
AA Change: C55*

SMART Domains

Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: C55*

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

0.9637

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	A	T	X: 78,370,682	I338F	probably damaging	Het
Acd	A	G	8: 105,698,838	S288P	probably benign	Het
Aimp2	T	C	5: 143,909,735		probably benign	Het
Atp8b2	T	C	3: 89,958,293	D100G	probably damaging	Het
Cacna1i	A	T	15: 80,374,767	I1226F	probably damaging	Het
Dsp	C	A	13: 38,192,248	N1336K	possibly damaging	Het
Extl2	T	C	3: 116,027,257	F251S	probably damaging	Het
Gm13089	G	T	4: 143,696,890	T443K	probably benign	Het
Gusb	T	C	5: 130,000,502	H146R	probably damaging	Het
Itpr2	C	T	6: 146,171,293	G2380S	probably damaging	Het
Kansl1l	T	C	1: 66,724,605	K762E	probably benign	Het
Lamp1	T	A	8: 13,173,891	L341H	probably damaging	Het
Llcfc1	A	T	6: 41,684,603	K29M	probably damaging	Het
Malrd1	A	T	2: 16,074,757	I1762F	unknown	Het
Muc5b	G	A	7: 141,861,554	V2746M	probably damaging	Het
Mug1	T	A	6: 121,881,843	D1173E	probably benign	Het
Myo5b	G	C	18: 74,762,618	E1782Q	probably damaging	Het
Olfr325	T	C	11: 58,581,162	F106S	possibly damaging	Het
Pcdha5	A	G	18: 36,961,887	D483G	probably damaging	Het
Phex	T	C	X: 157,310,958	I439V	probably benign	Het
Pkd1l1	T	A	11: 8,947,251	S103C	probably damaging	Het
Plekha4	C	T	7: 45,538,244	R176C	probably damaging	Het
Ppp1r3a	T	G	6: 14,718,249	S889R	possibly damaging	Het
Prol1	C	A	5: 88,328,309	A186E	unknown	Het
Rbm39	C	T	2: 156,167,583	R123H	probably benign	Het
Rtn4	T	C	11: 29,693,687	S167P	probably damaging	Het
Slc35a5	A	G	16: 45,151,560	C114R	probably damaging	Het
Smoc2	T	C	17: 14,397,625		probably null	Het
Sptbn2	A	G	19: 4,748,636	T1998A	possibly damaging	Het
Tbc1d5	T	A	17: 50,935,549	E173D	probably damaging	Het
Tsc2	A	G	17: 24,631,995		probably null	Het
Umps	A	T	16: 33,963,870	V71E	probably damaging	Het
Vmn2r13	T	C	5: 109,191,974	D45G	possibly damaging	Het
Wdfy4	C	A	14: 33,109,519	E917*	probably null	Het
Zfhx2	T	C	14: 55,064,803	K1908R	possibly damaging	Het
Zfp511	A	C	7: 140,039,382	D204A	probably benign	Het

Other mutations in Krtap4-9

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01949:Krtap4-9	APN	11	99785565	unclassified	probably benign
IGL02697:Krtap4-9	APN	11	99785748	missense	unknown
IGL03176:Krtap4-9	APN	11	99785280	unclassified	probably benign
R0988:Krtap4-9	UTSW	11	99785536	nonsense	probably null
R1773:Krtap4-9	UTSW	11	99785570	unclassified	probably benign
R1838:Krtap4-9	UTSW	11	99785396	unclassified	probably benign
R2566:Krtap4-9	UTSW	11	99785666	unclassified	probably benign
R3757:Krtap4-9	UTSW	11	99785618	unclassified	probably benign
R4633:Krtap4-9	UTSW	11	99785554	unclassified	probably benign
R5930:Krtap4-9	UTSW	11	99785636	unclassified	probably benign
R6092:Krtap4-9	UTSW	11	99785655	unclassified	probably benign
R6501:Krtap4-9	UTSW	11	99785429	unclassified	probably benign
R6934:Krtap4-9	UTSW	11	99785882	nonsense	probably null
R7131:Krtap4-9	UTSW	11	99785457	missense	unknown
RF017:Krtap4-9	UTSW	11	99785399	unclassified	probably benign
RF023:Krtap4-9	UTSW	11	99785391	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAACCATGGTCAGCTCCTG -3'
(R):5'- AGCTGGAACTACCACAGCAG -3'

Sequencing Primer
(F):5'- ACCATGGTCAGCTCCTGTTGTG -3'
(R):5'- CAGCAGCTGGAAATGCAAC -3'

Posted On

2015-01-23