Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Krt16'

62669

Institutional Source

Beutler Lab

Gene Symbol

Krt16

Ensembl Gene

ENSMUSG00000053797

Gene Name

keratin 16

Synonyms

Krt1-16, K16

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0709 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

100246091-100248902 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 100246454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000007280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007280]

AlphaFold

Q9Z2K1

Predicted Effect

probably benign
Transcript: ENSMUST00000007280

SMART Domains

Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
Filament	112	423	8.41e-170	SMART
low complexity region	454	467	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119257

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The encoded protein is a cytokeratin and acts as an innate immune system effector, promoting the inflammatory response upon breach of the skin barrier. Defects in this gene are a cause of pachyonychia congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Krt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Krt16	APN	11	100248717	nonsense	probably null
IGL01794:Krt16	APN	11	100247905	missense	probably benign	0.00
IGL01795:Krt16	APN	11	100247724	splice site	probably benign
IGL02221:Krt16	APN	11	100246336	splice site	probably benign
IGL02243:Krt16	APN	11	100246336	splice site	probably benign
IGL02410:Krt16	APN	11	100246336	splice site	probably benign
IGL02451:Krt16	APN	11	100246336	splice site	probably benign
IGL02457:Krt16	APN	11	100246336	splice site	probably benign
IGL02512:Krt16	APN	11	100246336	splice site	probably benign
IGL02745:Krt16	APN	11	100246336	splice site	probably benign
IGL02867:Krt16	APN	11	100247576	missense	probably damaging	1.00
PIT4131001:Krt16	UTSW	11	100248749	missense	unknown
PIT4472001:Krt16	UTSW	11	100247906	missense	probably benign	0.04
R0268:Krt16	UTSW	11	100246525	splice site	probably benign
R1560:Krt16	UTSW	11	100246649	missense	probably damaging	1.00
R1728:Krt16	UTSW	11	100247707	missense	probably damaging	1.00
R1996:Krt16	UTSW	11	100248788	missense	unknown
R2927:Krt16	UTSW	11	100248799	missense	unknown
R3806:Krt16	UTSW	11	100248740	missense	unknown
R3907:Krt16	UTSW	11	100247163	missense	possibly damaging	0.83
R5133:Krt16	UTSW	11	100247631	missense	probably damaging	0.99
R5412:Krt16	UTSW	11	100246767	missense	probably damaging	1.00
R5723:Krt16	UTSW	11	100248446	missense	probably damaging	0.99
R6270:Krt16	UTSW	11	100247203	missense	possibly damaging	0.51
R6368:Krt16	UTSW	11	100246676	missense	probably damaging	1.00
R7191:Krt16	UTSW	11	100246658	missense	probably damaging	1.00
R7314:Krt16	UTSW	11	100247869	missense	probably damaging	1.00
R7446:Krt16	UTSW	11	100246784	frame shift	probably null
R7825:Krt16	UTSW	11	100248634	missense	unknown
R7852:Krt16	UTSW	11	100246766	missense	probably damaging	1.00
R8053:Krt16	UTSW	11	100246787	missense	probably damaging	1.00
R8251:Krt16	UTSW	11	100248370	critical splice donor site	probably null
R8526:Krt16	UTSW	11	100246483	missense	probably benign	0.00
R8547:Krt16	UTSW	11	100246257	nonsense	probably null
R8834:Krt16	UTSW	11	100248410	missense	probably damaging	1.00
R9607:Krt16	UTSW	11	100247627	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGGTTGAACCTTGCTCCTTG -3'
(R):5'- CTTCCCTCACAGAAAGCATCCTTGG -3'

Sequencing Primer
(F):5'- CTTGAGGATGGACCGGGG -3'
(R):5'- CAGGAGTACAACATCTTGTTGG -3'

Posted On

2013-07-30