Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Gm26727'

380238

Institutional Source

Beutler Lab

Gene Symbol

Gm26727

Ensembl Gene

ENSMUSG00000097112

Gene Name

predicted gene, 26727

Synonyms

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67432816-67433181 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67432945 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 79 (I79M)

Ref Sequence

ENSEMBL: ENSMUSP00000137987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178898] [ENSMUST00000180773]

Predicted Effect

probably benign
Transcript: ENSMUST00000178898

Predicted Effect

probably damaging
Transcript: ENSMUST00000180773
AA Change: I79M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137987
Gene: ENSMUSG00000097112
AA Change: I79M

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Alpi	T	A	1: 87,100,469	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Cept1	A	C	3: 106,505,732	S226A	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm5800	T	A	14: 51,716,047	N37I	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Ice2	T	A	9: 69,415,448	S408R	probably benign	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mvk	C	T	5: 114,460,197		probably benign	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,336,233	C170S	probably benign	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	Het

Other mutations in Gm26727

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4861:Gm26727	UTSW	2	67432945	missense	probably damaging	0.99
R7139:Gm26727	UTSW	2	67433037	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGCTATGACATGTTCTCATTCATGC -3'
(R):5'- TCAGAGAAGGGAAATATCTATCACG -3'

Sequencing Primer
(F):5'- ATGACATGTTCTCATTCATGCTTTGG -3'
(R):5'- GGGAAATATCTATCACGTTTTTGTCC -3'

Posted On

2016-04-15