Mutagenetix > Incidental Mutation

Incidental Mutation 'R1356:Krt9'

156329

Institutional Source

Beutler Lab

Gene Symbol

Krt9

Ensembl Gene

ENSMUSG00000051617

Gene Name

keratin 9

Synonyms

Krt1-9, K9

MMRRC Submission

039421-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1356 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

100186781-100193246 bp(-) (GRCm38)

Type of Mutation

small insertion (8 aa in frame mutation)

DNA Base Change (assembly)

CTGC to CTGCNNNNNNNNNNNNNNNNNNNNNTGC at 100188814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059707]

AlphaFold

Q6RHW0

Predicted Effect

probably benign
Transcript: ENSMUST00000059707

SMART Domains

Protein: ENSMUSP00000055255
Gene: ENSMUSG00000051617

Domain	Start	End	E-Value	Type
low complexity region	6	125	N/A	INTRINSIC
Filament	130	442	2.96e-124	SMART
low complexity region	462	716	N/A	INTRINSIC
low complexity region	721	737	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (34/34)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperpigmented calluses on the footpad with acanthosis, hyperkeratosis, thick epidermis and increased keratinocyte proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,302,953		probably benign	Het
Adam18	A	G	8: 24,668,595		probably benign	Het
Cd274	C	A	19: 29,373,570	T22K	possibly damaging	Het
Cfap45	G	A	1: 172,527,863	R26Q	possibly damaging	Het
Dvl3	AGCGGCGGCGGCGG	AGCGGCGGCGG	16: 20,524,305		probably benign	Het
E2f8	A	G	7: 48,880,270		probably benign	Het
Ercc4	A	G	16: 13,125,282	H255R	probably damaging	Het
Fam227b	C	T	2: 126,119,008	D234N	probably damaging	Het
Foxp1	A	T	6: 99,016,676		probably benign	Het
Fsip2	T	A	2: 82,989,745	V5274D	probably benign	Het
Gm21718	A	G	14: 51,316,647		noncoding transcript	Het
Gpr85	G	A	6: 13,836,147	P253S	probably benign	Het
Grm7	A	T	6: 111,359,024	I799F	probably damaging	Het
Inpp1	A	G	1: 52,797,056	F84L	possibly damaging	Het
Kprp	T	A	3: 92,825,602	E47V	probably damaging	Het
Lama3	G	A	18: 12,500,577		probably benign	Het
Lurap1l	C	G	4: 80,911,530	A59G	probably benign	Het
Macc1	A	T	12: 119,446,555	T353S	probably benign	Het
Mctp2	A	G	7: 72,164,723		probably benign	Het
Mdn1	T	C	4: 32,700,334		probably benign	Het
Mpeg1	T	A	19: 12,461,325	V49D	probably damaging	Het
Nos2	C	T	11: 78,952,803	P859S	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Parn	A	T	16: 13,650,674	Y214*	probably null	Het
Pibf1	A	G	14: 99,137,196	E357G	possibly damaging	Het
Prex2	C	T	1: 11,080,092	Q163*	probably null	Het
Prune2	T	A	19: 17,212,317	S294T	probably benign	Het
Slc46a1	A	G	11: 78,470,724	N399D	probably benign	Het
Sstr2	T	C	11: 113,624,894	F213S	probably damaging	Het
Tnxb	A	G	17: 34,695,472	E1967G	possibly damaging	Het
Vmn2r59	A	G	7: 42,011,794	*866Q	probably null	Het

Other mutations in Krt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Krt9	APN	11	100190006	missense	probably damaging	1.00
IGL01695:Krt9	APN	11	100191437	critical splice donor site	probably null
IGL02383:Krt9	APN	11	100191215	missense	probably damaging	1.00
IGL02529:Krt9	APN	11	100189966	missense	probably damaging	0.99
IGL02819:Krt9	APN	11	100191520	missense	probably damaging	1.00
droplet	UTSW	11	100190788	missense	probably damaging	1.00
R5944_Krt9_487	UTSW	11	100188439	missense	unknown
G1citation:Krt9	UTSW	11	100189077	small deletion	probably benign
R1397:Krt9	UTSW	11	100192638	missense	probably damaging	1.00
R1498:Krt9	UTSW	11	100188369	nonsense	probably null
R1772:Krt9	UTSW	11	100191305	missense	probably damaging	0.99
R1871:Krt9	UTSW	11	100190788	missense	probably damaging	1.00
R1883:Krt9	UTSW	11	100188697	missense	unknown
R1985:Krt9	UTSW	11	100189991	missense	probably benign	0.02
R2056:Krt9	UTSW	11	100191495	missense	probably damaging	1.00
R2253:Krt9	UTSW	11	100190859	missense	possibly damaging	0.83
R2305:Krt9	UTSW	11	100193116	missense	unknown
R2875:Krt9	UTSW	11	100189205	nonsense	probably null
R3813:Krt9	UTSW	11	100189677	missense	probably damaging	1.00
R3874:Krt9	UTSW	11	100190849	missense	probably damaging	1.00
R4157:Krt9	UTSW	11	100188649	missense	unknown
R4762:Krt9	UTSW	11	100190849	missense	probably damaging	1.00
R4873:Krt9	UTSW	11	100190037	missense	probably benign	0.06
R4875:Krt9	UTSW	11	100190037	missense	probably benign	0.06
R4923:Krt9	UTSW	11	100189077	small deletion	probably benign
R4973:Krt9	UTSW	11	100188712	missense	unknown
R5153:Krt9	UTSW	11	100191242	missense	probably damaging	0.99
R5658:Krt9	UTSW	11	100190767	missense	probably damaging	0.98
R5696:Krt9	UTSW	11	100189077	small deletion	probably benign
R5944:Krt9	UTSW	11	100188439	missense	unknown
R6147:Krt9	UTSW	11	100188839	missense	unknown
R6403:Krt9	UTSW	11	100189659	missense	probably damaging	0.99
R6476:Krt9	UTSW	11	100190814	missense	probably damaging	1.00
R6822:Krt9	UTSW	11	100189077	small deletion	probably benign
R7159:Krt9	UTSW	11	100189077	small deletion	probably benign
R7174:Krt9	UTSW	11	100189077	small deletion	probably benign
R7203:Krt9	UTSW	11	100190791	missense	probably damaging	1.00
R7805:Krt9	UTSW	11	100192696	missense	possibly damaging	0.85
R7817:Krt9	UTSW	11	100189077	small deletion	probably benign
R7822:Krt9	UTSW	11	100189077	small deletion	probably benign
R7834:Krt9	UTSW	11	100192666	missense	probably benign	0.06
R7947:Krt9	UTSW	11	100189077	small deletion	probably benign
R7977:Krt9	UTSW	11	100189077	small deletion	probably benign
R8943:Krt9	UTSW	11	100189077	small deletion	probably benign
R9092:Krt9	UTSW	11	100189077	small deletion	probably benign
R9099:Krt9	UTSW	11	100189077	small deletion	probably benign
R9203:Krt9	UTSW	11	100188908	missense	unknown
R9313:Krt9	UTSW	11	100188721	missense	unknown
R9361:Krt9	UTSW	11	100189077	small deletion	probably benign
R9370:Krt9	UTSW	11	100189077	small deletion	probably benign
R9438:Krt9	UTSW	11	100188998	missense	unknown
R9448:Krt9	UTSW	11	100189077	small deletion	probably benign
R9455:Krt9	UTSW	11	100189077	small deletion	probably benign
R9620:Krt9	UTSW	11	100188360	missense	unknown
R9676:Krt9	UTSW	11	100189077	small deletion	probably benign
R9719:Krt9	UTSW	11	100189077	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCAGAACTGCTTCCTCCTCCATAG -3'
(R):5'- GTGAATCGTCTGGAGCTGGACAAA -3'

Sequencing Primer
(F):5'- gctacctccactttttccacc -3'
(R):5'- tggaggaggaagtggagg -3'

Posted On

2014-02-11