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: 0.093) question?

Stock #

R0709 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

100136917-100139728 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 100137280 bp (GRCm39)

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: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	probably damaging	Het

Other mutations in Krt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Krt16	APN	11	100,139,543 (GRCm39)	nonsense	probably null
IGL01794:Krt16	APN	11	100,138,731 (GRCm39)	missense	probably benign	0.00
IGL01795:Krt16	APN	11	100,138,550 (GRCm39)	splice site	probably benign
IGL02221:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02243:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02410:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02451:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02457:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02512:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02745:Krt16	APN	11	100,137,162 (GRCm39)	splice site	probably benign
IGL02867:Krt16	APN	11	100,138,402 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Krt16	UTSW	11	100,139,575 (GRCm39)	missense	unknown
PIT4472001:Krt16	UTSW	11	100,138,732 (GRCm39)	missense	probably benign	0.04
R0268:Krt16	UTSW	11	100,137,351 (GRCm39)	splice site	probably benign
R1560:Krt16	UTSW	11	100,137,475 (GRCm39)	missense	probably damaging	1.00
R1728:Krt16	UTSW	11	100,138,533 (GRCm39)	missense	probably damaging	1.00
R1996:Krt16	UTSW	11	100,139,614 (GRCm39)	missense	unknown
R2927:Krt16	UTSW	11	100,139,625 (GRCm39)	missense	unknown
R3806:Krt16	UTSW	11	100,139,566 (GRCm39)	missense	unknown
R3907:Krt16	UTSW	11	100,137,989 (GRCm39)	missense	possibly damaging	0.83
R5133:Krt16	UTSW	11	100,138,457 (GRCm39)	missense	probably damaging	0.99
R5412:Krt16	UTSW	11	100,137,593 (GRCm39)	missense	probably damaging	1.00
R5723:Krt16	UTSW	11	100,139,272 (GRCm39)	missense	probably damaging	0.99
R6270:Krt16	UTSW	11	100,138,029 (GRCm39)	missense	possibly damaging	0.51
R6368:Krt16	UTSW	11	100,137,502 (GRCm39)	missense	probably damaging	1.00
R7191:Krt16	UTSW	11	100,137,484 (GRCm39)	missense	probably damaging	1.00
R7314:Krt16	UTSW	11	100,138,695 (GRCm39)	missense	probably damaging	1.00
R7446:Krt16	UTSW	11	100,137,610 (GRCm39)	frame shift	probably null
R7825:Krt16	UTSW	11	100,139,460 (GRCm39)	missense	unknown
R7852:Krt16	UTSW	11	100,137,592 (GRCm39)	missense	probably damaging	1.00
R8053:Krt16	UTSW	11	100,137,613 (GRCm39)	missense	probably damaging	1.00
R8251:Krt16	UTSW	11	100,139,196 (GRCm39)	critical splice donor site	probably null
R8526:Krt16	UTSW	11	100,137,309 (GRCm39)	missense	probably benign	0.00
R8547:Krt16	UTSW	11	100,137,083 (GRCm39)	nonsense	probably null
R8834:Krt16	UTSW	11	100,139,236 (GRCm39)	missense	probably damaging	1.00
R9607:Krt16	UTSW	11	100,138,453 (GRCm39)	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