Mutagenetix > Incidental Mutation

Incidental Mutation 'R6672:Krtap5-1'

527174

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-1

Ensembl Gene

ENSMUSG00000066100

Gene Name

keratin associated protein 5-1

Synonyms

MMRRC Submission

044792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R6672 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141850114-141850871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141850233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 192 (C192R)

Ref Sequence

ENSEMBL: ENSMUSP00000139752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084413] [ENSMUST00000188274]

AlphaFold

Q64507

Predicted Effect

unknown
Transcript: ENSMUST00000084413
AA Change: C165R

SMART Domains

Protein: ENSMUSP00000137356
Gene: ENSMUSG00000066100
AA Change: C165R

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	93	134	3.9e-5	PFAM
Pfam:Keratin_B2_2	112	159	1.8e-7	PFAM
Pfam:Keratin_B2_2	122	170	5e-5	PFAM
Pfam:Keratin_B2_2	150	194	1.3e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000188274
AA Change: C192R

SMART Domains

Protein: ENSMUSP00000139752
Gene: ENSMUSG00000066100
AA Change: C192R

Domain	Start	End	E-Value	Type
low complexity region	3	226	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	C	T	7: 26,903,489 (GRCm39)		probably benign	Het
Adam24	A	G	8: 41,134,572 (GRCm39)	E680G	probably benign	Het
Adam7	T	A	14: 68,742,151 (GRCm39)		probably null	Het
Arid2	C	T	15: 96,260,226 (GRCm39)	T351I	probably benign	Het
Asz1	T	A	6: 18,075,817 (GRCm39)	E252V	possibly damaging	Het
Chrm5	C	T	2: 112,310,141 (GRCm39)	C325Y	probably benign	Het
Cimap1a	A	G	7: 140,428,340 (GRCm39)	S25G	probably benign	Het
Cyp2c65	A	G	19: 39,076,118 (GRCm39)	R357G	probably damaging	Het
Dhx36	A	G	3: 62,402,957 (GRCm39)	V265A	probably damaging	Het
Dhx36	T	A	3: 62,408,300 (GRCm39)	E179D	probably benign	Het
Dip2c	G	A	13: 9,617,866 (GRCm39)		probably null	Het
Dock10	A	T	1: 80,490,248 (GRCm39)	M1958K	probably benign	Het
Dpf1	T	C	7: 29,015,693 (GRCm39)	C357R	probably damaging	Het
Dync1h1	C	T	12: 110,624,568 (GRCm39)	R3703C	probably damaging	Het
Eef1g	A	G	19: 8,944,411 (GRCm39)		probably null	Het
Gnl2	T	C	4: 124,942,186 (GRCm39)	V397A	probably damaging	Het
Gramd2b	A	G	18: 56,565,408 (GRCm39)	E21G	possibly damaging	Het
Grik3	C	A	4: 125,517,309 (GRCm39)	Q51K	probably benign	Het
Hectd2	G	T	19: 36,564,780 (GRCm39)	Q20H	probably damaging	Het
Lrpap1	A	T	5: 35,256,577 (GRCm39)	M135K	probably benign	Het
Lrrc9	G	A	12: 72,520,710 (GRCm39)	R664H	possibly damaging	Het
Mef2c	T	G	13: 83,800,975 (GRCm39)	V225G	probably damaging	Het
Nlrp9b	T	C	7: 19,753,263 (GRCm39)	L56P	probably damaging	Het
Nup133	T	C	8: 124,643,020 (GRCm39)		probably null	Het
Or12j4	G	A	7: 140,046,648 (GRCm39)	C178Y	probably damaging	Het
Or5ak23	T	A	2: 85,244,948 (GRCm39)	I92L	possibly damaging	Het
Ppp1r3d	T	C	2: 178,055,552 (GRCm39)	E150G	possibly damaging	Het
Smpd1	A	G	7: 105,204,480 (GRCm39)	M120V	probably benign	Het
Zbtb46	A	G	2: 181,053,629 (GRCm39)	L361P	probably benign	Het
Zfp605	A	G	5: 110,275,863 (GRCm39)	H327R	probably damaging	Het

Other mutations in Krtap5-1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02799:Krtap5-1	UTSW	7	141,850,242 (GRCm39)	nonsense	probably null
R0195:Krtap5-1	UTSW	7	141,850,434 (GRCm39)	missense	unknown
R1903:Krtap5-1	UTSW	7	141,850,084 (GRCm39)	unclassified	probably benign
R4020:Krtap5-1	UTSW	7	141,850,094 (GRCm39)	critical splice acceptor site	probably null
R4812:Krtap5-1	UTSW	7	141,850,628 (GRCm39)	missense	unknown
R5943:Krtap5-1	UTSW	7	141,850,788 (GRCm39)	missense	unknown
R7203:Krtap5-1	UTSW	7	141,850,299 (GRCm39)	missense	unknown
R7729:Krtap5-1	UTSW	7	141,850,333 (GRCm39)	small deletion	probably benign
R7740:Krtap5-1	UTSW	7	141,850,333 (GRCm39)	small deletion	probably benign
R7840:Krtap5-1	UTSW	7	141,850,333 (GRCm39)	small deletion	probably benign
R8270:Krtap5-1	UTSW	7	141,850,199 (GRCm39)	missense	unknown
R8552:Krtap5-1	UTSW	7	141,850,160 (GRCm39)	missense	probably null
R8788:Krtap5-1	UTSW	7	141,850,333 (GRCm39)	small deletion	probably benign
R8862:Krtap5-1	UTSW	7	141,850,333 (GRCm39)	small deletion	probably benign
Z1177:Krtap5-1	UTSW	7	141,850,697 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCAAGTCGAGAATCTTAAATCTTGCC -3'
(R):5'- CAAACCCTGCTGCTCTTCAG -3'

Sequencing Primer
(F):5'- CGAGAATCTTAAATCTTGCCTTGGC -3'
(R):5'- TCAGTCCAGCTGCTGCAAG -3'

Posted On

2018-07-23