Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:Krt20'

544729

Institutional Source

Beutler Lab

Gene Symbol

Krt20

Ensembl Gene

ENSMUSG00000035775

Gene Name

keratin 20

Synonyms

CK20, 9030623C06Rik, cytokeratin 20

MMRRC Submission

045011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99319229-99328976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99328587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 113 (Y113N)

Ref Sequence

ENSEMBL: ENSMUSP00000017743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017743]

AlphaFold

Q9D312

Predicted Effect

probably benign
Transcript: ENSMUST00000017743
AA Change: Y113N

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: Y113N

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Filament	76	387	7.19e-146	SMART
low complexity region	410	431	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the keratin protein family and is found within a cluster of cytokeratin genes on chromosome 11. Keratins are cytoskeletal proteins that are preferentially expressed in epithelial cells. The encoded protein may help maintain intermediate filament organization in intestinal epithelium. Phosphorylation of this protein may also influence mucin secretion in the small intestine. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	G	4: 144,447,853 (GRCm39)	V41A	probably benign	Het
Adcy2	G	A	13: 69,036,139 (GRCm39)	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,631,290 (GRCm39)	I412N	probably benign	Het
AW146154	T	C	7: 41,130,648 (GRCm39)	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,005,700 (GRCm39)	L267P	probably benign	Het
Bod1l	T	C	5: 41,989,895 (GRCm39)	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,171,102 (GRCm39)	T459A	probably benign	Het
Ccdc196	T	A	12: 78,255,702 (GRCm39)	*177R	probably null	Het
Cep72	G	A	13: 74,198,427 (GRCm39)	Q311*	probably null	Het
Cir1	T	C	2: 73,140,834 (GRCm39)	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,261,127 (GRCm39)		probably null	Het
Crtap	G	T	9: 114,215,391 (GRCm39)	A166E	probably damaging	Het
Dipk1a	A	G	5: 108,058,027 (GRCm39)	V132A	probably benign	Het
Dmp1	A	G	5: 104,360,188 (GRCm39)	D288G	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmnl2	C	A	2: 52,998,266 (GRCm39)	Q544K	probably benign	Het
Gpsm1	T	C	2: 26,212,572 (GRCm39)	L72P	probably damaging	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Kcnq3	A	C	15: 65,892,165 (GRCm39)	Y403*	probably null	Het
Kcp	A	C	6: 29,499,169 (GRCm39)	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,625,526 (GRCm39)	S599P	probably damaging	Het
Mcm8	T	G	2: 132,665,181 (GRCm39)	V191G	probably damaging	Het
Msr1	T	A	8: 40,042,423 (GRCm39)	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873 (GRCm39)	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,167,731 (GRCm39)	T1020M	probably benign	Het
Nphp4	A	G	4: 152,573,259 (GRCm39)	T66A	probably benign	Het
Or1o3	T	A	17: 37,573,625 (GRCm39)	*310L	probably null	Het
Or4f14	C	A	2: 111,742,601 (GRCm39)	V225L	probably benign	Het
Or8h10	G	A	2: 86,808,303 (GRCm39)	T279I	probably damaging	Het
Or8k18	T	A	2: 86,085,572 (GRCm39)	Q155L	probably benign	Het
Phf11d	G	T	14: 59,590,823 (GRCm39)	T178K	probably benign	Het
Ppm1d	A	G	11: 85,227,977 (GRCm39)	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,503,690 (GRCm39)	I144K	probably benign	Het
Stoml1	A	G	9: 58,167,523 (GRCm39)	D5G	probably damaging	Het
Styxl2	T	C	1: 165,926,663 (GRCm39)	N983S	probably benign	Het
Tanc1	T	C	2: 59,626,188 (GRCm39)	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,947,361 (GRCm39)	V108A	possibly damaging	Het
Tifab	T	C	13: 56,324,059 (GRCm39)	Y128C	probably benign	Het
Tmc6	G	T	11: 117,665,083 (GRCm39)	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,162 (GRCm39)	A63T	probably damaging	Het
Trgc4	T	A	13: 19,528,995 (GRCm39)		probably benign	Het
Usp16	G	T	16: 87,268,724 (GRCm39)	C284F	probably damaging	Het
Wipf1	T	C	2: 73,267,441 (GRCm39)	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,326,649 (GRCm39)	W347R	probably damaging	Het
Zfp180	G	T	7: 23,804,537 (GRCm39)	E319*	probably null	Het

Other mutations in Krt20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Krt20	APN	11	99,322,769 (GRCm39)	missense	probably benign	0.01
IGL01926:Krt20	APN	11	99,328,652 (GRCm39)	missense	probably damaging	1.00
IGL02105:Krt20	APN	11	99,328,827 (GRCm39)	missense	probably benign	0.01
IGL03225:Krt20	APN	11	99,322,756 (GRCm39)	missense	probably damaging	0.97
IGL03274:Krt20	APN	11	99,320,855 (GRCm39)	splice site	probably benign
IGL03331:Krt20	APN	11	99,326,256 (GRCm39)	splice site	probably null
R0091:Krt20	UTSW	11	99,328,640 (GRCm39)	missense	probably damaging	1.00
R0446:Krt20	UTSW	11	99,328,602 (GRCm39)	nonsense	probably null
R3955:Krt20	UTSW	11	99,323,037 (GRCm39)	nonsense	probably null
R4805:Krt20	UTSW	11	99,319,811 (GRCm39)	missense	unknown
R5156:Krt20	UTSW	11	99,320,879 (GRCm39)	missense	possibly damaging	0.92
R5620:Krt20	UTSW	11	99,326,283 (GRCm39)	missense	probably damaging	1.00
R6716:Krt20	UTSW	11	99,322,754 (GRCm39)	missense	possibly damaging	0.77
R8041:Krt20	UTSW	11	99,328,663 (GRCm39)	missense	probably damaging	1.00
R8296:Krt20	UTSW	11	99,323,063 (GRCm39)	missense	probably damaging	1.00
R9189:Krt20	UTSW	11	99,323,087 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- CTCATCCTGTTTACAGATACCACATG -3'
(R):5'- CCAAAGCCGTAATGAGCTACG -3'

Sequencing Primer
(F):5'- ACATTTCAACCTAATCTGCTTCATG -3'
(R):5'- TACGGGGGTGATCTCTCCAAC -3'

Posted On

2019-05-13