Mutagenetix > Incidental Mutation

Incidental Mutation 'R5156:Krt20'

396743

Institutional Source

Beutler Lab

Gene Symbol

Krt20

Ensembl Gene

ENSMUSG00000035775

Gene Name

keratin 20

Synonyms

CK20, 9030623C06Rik, cytokeratin 20

MMRRC Submission

042738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99319229-99328976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99320879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 394 (S394R)

Ref Sequence

ENSEMBL: ENSMUSP00000017743 (fasta)

Gene Model

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

AlphaFold

Q9D312

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017743
AA Change: S394R

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: S394R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128904

Meta Mutation Damage Score

0.0857

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,638 (GRCm39)		probably benign	Het
Apeh	C	T	9: 107,971,486 (GRCm39)	A29T	probably damaging	Het
Arap2	A	T	5: 62,826,524 (GRCm39)	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Asf1b	T	C	8: 84,682,540 (GRCm39)	F28S	probably damaging	Het
Cd46	T	A	1: 194,767,693 (GRCm39)	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,309,370 (GRCm39)	T48S	probably damaging	Het
Cfap53	T	A	18: 74,492,838 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,511,599 (GRCm39)	T599S	probably benign	Het
Csf1	T	A	3: 107,656,252 (GRCm39)	T148S	probably benign	Het
Dmbt1	T	C	7: 130,699,400 (GRCm39)		probably null	Het
Dmpk	A	G	7: 18,818,050 (GRCm39)	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,728,782 (GRCm39)	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,595,264 (GRCm39)	M1392K	probably benign	Het
Edrf1	C	T	7: 133,261,908 (GRCm39)	A867V	probably damaging	Het
Efemp2	T	A	19: 5,527,706 (GRCm39)	C94S	possibly damaging	Het
Epha8	C	T	4: 136,666,037 (GRCm39)	S373N	probably benign	Het
Foxk1	A	G	5: 142,434,588 (GRCm39)	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,678,366 (GRCm39)	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,358,665 (GRCm39)		noncoding transcript	Het
Gm6818	A	T	7: 38,101,471 (GRCm39)		noncoding transcript	Het
Hydin	T	A	8: 111,336,333 (GRCm39)	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,719,448 (GRCm39)	M492K	probably damaging	Het
Lrrc71	T	A	3: 87,653,094 (GRCm39)	R107S	probably benign	Het
Mia2	A	G	12: 59,219,323 (GRCm39)	T436A	possibly damaging	Het
Muc19	T	A	15: 91,784,614 (GRCm39)		noncoding transcript	Het
Neu4	T	C	1: 93,952,177 (GRCm39)	V182A	probably damaging	Het
Notch2	T	G	3: 98,031,626 (GRCm39)	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,360,277 (GRCm39)	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,765,487 (GRCm39)	I172F	probably damaging	Het
Or5b118	G	T	19: 13,449,037 (GRCm39)	K234N	probably damaging	Het
Or5w15	G	A	2: 87,568,119 (GRCm39)	P183L	possibly damaging	Het
Or8k41	A	T	2: 86,313,362 (GRCm39)	C241*	probably null	Het
Plekha5	C	T	6: 140,372,254 (GRCm39)	T68M	probably damaging	Het
Ppef2	A	G	5: 92,392,461 (GRCm39)		probably null	Het
Ppp1r37	T	C	7: 19,295,900 (GRCm39)		probably benign	Het
Rfx4	T	C	10: 84,704,218 (GRCm39)	Y238H	probably damaging	Het
Sanbr	A	G	11: 23,543,424 (GRCm39)		probably null	Het
Sec13	G	A	6: 113,707,837 (GRCm39)	A161V	probably benign	Het
Serhl	G	A	15: 82,986,895 (GRCm39)		probably benign	Het
Slco4a1	T	C	2: 180,114,572 (GRCm39)	V588A	probably benign	Het
Slitrk3	T	C	3: 72,956,592 (GRCm39)	T727A	probably benign	Het
Sp100	T	A	1: 85,601,404 (GRCm39)	D241E	probably damaging	Het
Spata2	G	T	2: 167,325,494 (GRCm39)	H442N	probably damaging	Het
Speg	T	C	1: 75,404,731 (GRCm39)	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,578,155 (GRCm39)	S141P	probably damaging	Het
Trank1	A	G	9: 111,219,762 (GRCm39)	I2166M	probably damaging	Het
Trim10	T	A	17: 37,187,948 (GRCm39)	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 109,143,466 (GRCm39)	V828A	probably benign	Het
Vmn2r75	T	A	7: 85,813,436 (GRCm39)	L455F	possibly damaging	Het
Vwa8	T	A	14: 79,221,666 (GRCm39)	S541T	probably benign	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
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
R7006:Krt20	UTSW	11	99,328,587 (GRCm39)	missense	probably benign	0.34
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'- GCATGAAGTTGTCCTCTGACTTC -3'
(R):5'- AGGCTGGTGTTTTCCAAGCC -3'

Sequencing Primer
(F):5'- CATGGTGGCATGGACATTCTCTC -3'
(R):5'- GCTGGTGTTTTCCAAGCCAAAAAG -3'

Posted On

2016-06-21