Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Krt9'

104263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt9

Ensembl Gene

ENSMUSG00000051617

Gene Name

keratin 9

Synonyms

Krt1-9, K9

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

100186781-100193246 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 100191437 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 null
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

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,265,193	V177A	probably benign	Het
Ap3b2	T	A	7: 81,476,939		probably benign	Het
Arfgef3	T	C	10: 18,603,419	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090	N43S	probably damaging	Het
Cdh23	C	T	10: 60,331,833	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319	S312P	probably damaging	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Gm11639	A	T	11: 104,736,063	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129		probably benign	Het
Myh6	T	C	14: 54,957,413	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604	D473G	probably benign	Het
Olfr576	T	C	7: 102,965,583	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293		probably benign	Het
Strc	A	G	2: 121,375,298	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342	D195G	probably benign	Het

Other mutations in Krt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Krt9	APN	11	100190006	missense	probably damaging	1.00
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
R1356:Krt9	UTSW	11	100188814	small insertion	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

Posted On

2014-01-21