Mutagenetix > Incidental Mutation

Incidental Mutation 'R4805:Krt20'

370638

Institutional Source

Beutler Lab

Gene Symbol

Krt20

Ensembl Gene

ENSMUSG00000035775

Gene Name

keratin 20

Synonyms

CK20, 9030623C06Rik, cytokeratin 20

MMRRC Submission

041999-MU

Accession Numbers

Essential gene?

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

Stock #

R4805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99319229-99328976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99319811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 431 (V431A)

Ref Sequence

ENSEMBL: ENSMUSP00000017743 (fasta)

Gene Model

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

AlphaFold

Q9D312

Predicted Effect

unknown
Transcript: ENSMUST00000017743
AA Change: V431A

SMART Domains

Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: V431A

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

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (69/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,950,628 (GRCm39)	Y1508*	probably null	Het
4931414P19Rik	T	C	14: 54,832,911 (GRCm39)	E88G	probably benign	Het
Acaa1b	A	G	9: 118,986,014 (GRCm39)	S17P	probably benign	Het
Arhgef7	G	A	8: 11,881,552 (GRCm39)	E565K	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bpnt1	T	A	1: 185,077,504 (GRCm39)		probably null	Het
Ccnt1	C	T	15: 98,442,189 (GRCm39)	V360I	probably benign	Het
Chd4	T	C	6: 125,105,908 (GRCm39)	S1829P	possibly damaging	Het
Dennd1b	A	T	1: 138,981,122 (GRCm39)	N112I	probably damaging	Het
Fat2	A	T	11: 55,174,805 (GRCm39)	D1969E	probably benign	Het
Flywch1	A	C	17: 23,979,591 (GRCm39)	D394E	probably benign	Het
Gal3st4	T	A	5: 138,263,733 (GRCm39)		probably null	Het
Gm14403	T	C	2: 177,200,492 (GRCm39)	L146P	probably damaging	Het
Gm5283	G	T	3: 17,285,123 (GRCm39)		noncoding transcript	Het
Gpr161	T	A	1: 165,134,029 (GRCm39)	L97Q	probably damaging	Het
Gstm2	A	T	3: 107,892,411 (GRCm39)	M105K	possibly damaging	Het
Hecw2	A	G	1: 53,880,018 (GRCm39)	Y1264H	probably damaging	Het
Ifi206	T	A	1: 173,308,952 (GRCm39)	Q348L	possibly damaging	Het
Ighv1-83	A	T	12: 115,927,489 (GRCm39)	M87K	possibly damaging	Het
Ighv2-7	A	T	12: 113,771,154 (GRCm39)	S44T	probably damaging	Het
Ipo7	T	A	7: 109,650,691 (GRCm39)	N884K	probably benign	Het
Itga2b	T	C	11: 102,358,692 (GRCm39)	N75S	probably benign	Het
Krt24	A	T	11: 99,174,452 (GRCm39)	I205N	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc31	A	T	3: 30,745,446 (GRCm39)	L67*	probably null	Het
Lrrc37a	A	G	11: 103,395,135 (GRCm39)	F97L	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mgat4d	T	G	8: 84,084,787 (GRCm39)		probably null	Het
Mrgprb3	C	T	7: 48,293,054 (GRCm39)	V166I	probably benign	Het
Myh11	T	A	16: 14,052,329 (GRCm39)	Q379L	possibly damaging	Het
Myh7	T	C	14: 55,222,590 (GRCm39)	S782G	probably benign	Het
Nobox	T	C	6: 43,282,053 (GRCm39)	D340G	probably damaging	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or2t29	G	A	11: 58,433,396 (GRCm39)	T315I	probably benign	Het
Or5b101	T	A	19: 13,005,661 (GRCm39)	I11F	probably benign	Het
Pikfyve	T	A	1: 65,307,959 (GRCm39)	I1845N	probably damaging	Het
Pramel15	A	G	4: 144,103,590 (GRCm39)	Y179H	probably benign	Het
Rad21l	T	G	2: 151,509,927 (GRCm39)	H58P	probably damaging	Het
Scnn1g	T	C	7: 121,345,825 (GRCm39)	L316S	probably damaging	Het
Serpina5	G	A	12: 104,068,460 (GRCm39)	V174I	probably damaging	Het
Shank1	T	C	7: 43,993,135 (GRCm39)	S788P	unknown	Het
Shisal1	T	A	15: 84,301,397 (GRCm39)	H82L	probably damaging	Het
Snap47	A	G	11: 59,319,343 (GRCm39)	V265A	possibly damaging	Het
Steap3	T	A	1: 120,171,616 (GRCm39)	H163L	probably benign	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,173,076 (GRCm39)	F1729L	probably benign	Het
Thsd7b	T	C	1: 130,116,276 (GRCm39)	V1343A	probably benign	Het
Thumpd2	G	A	17: 81,334,130 (GRCm39)	T486I	probably damaging	Het
Ttc41	G	T	10: 86,565,662 (GRCm39)	M405I	possibly damaging	Het
Ttn	T	C	2: 76,577,873 (GRCm39)	D24340G	probably damaging	Het
Vmn1r10	T	G	6: 57,090,602 (GRCm39)	F65V	possibly damaging	Het
Vmn2r118	G	T	17: 55,899,581 (GRCm39)	D774E	probably damaging	Het
Vmn2r13	C	T	5: 109,304,331 (GRCm39)	C700Y	probably damaging	Het
Wsb1	A	C	11: 79,131,217 (GRCm39)	M393R	possibly damaging	Het
Zmat3	A	G	3: 32,397,504 (GRCm39)	Y214H	probably benign	Het
Zswim3	C	T	2: 164,662,099 (GRCm39)	T193I	possibly damaging	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
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
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'- TGTGCCTTGCAATGAGGACG -3'
(R):5'- GAGAGTGATATACATTGTTCTGAGC -3'

Sequencing Primer
(F):5'- CCTTGCAATGAGGACGATTGTGC -3'
(R):5'- CCTCTGATGTCTGACACA -3'

Posted On

2016-02-04