Mutagenetix > Incidental Mutations

Incidental Mutation 'BB003:Gm340'

642242

Institutional Source

Beutler Lab

Gene Symbol

Gm340

Ensembl Gene

ENSMUSG00000090673

Gene Name

predicted gene 340

Synonyms

LOC381224

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

BB003

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41582370-41586536 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41582569 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 67 (F67S)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172371]

Predicted Effect

probably benign
Transcript: ENSMUST00000172371
AA Change: F67S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: F67S

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
Pfam:DUF4553	787	1241	9.7e-179	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
BC016579	C	A	16: 45,629,462	D198Y	probably damaging	Het
Cep170	A	G	1: 176,761,413	S549P	probably damaging	Het
Cnih3	T	C	1: 181,450,001	L96P	probably damaging	Het
Cnn2	T	A	10: 79,993,326	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
Cnot10	A	G	9: 114,617,815	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,533,929	Y212*	probably null	Het
Dmxl2	T	C	9: 54,428,042	T665A	probably benign	Het
Dnmt1	C	A	9: 20,907,559	A1609S	unknown	Het
Dzip1	T	C	14: 118,883,499	D682G	probably benign	Het
Fam76a	A	G	4: 132,902,094	L249P	probably damaging	Het
Fgf10	T	C	13: 118,789,216	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Itln1	G	A	1: 171,531,693	T73I	probably benign	Het
Jkamp	T	C	12: 72,094,816	Y197H	probably damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lmf2	G	A	15: 89,352,421	P514L	probably damaging	Het
Lmntd2	G	T	7: 141,210,345	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,145,722	S225P	probably damaging	Het
Mbd5	T	C	2: 49,256,323	Y182H	probably damaging	Het
Mki67	A	G	7: 135,697,140	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Myh8	C	T	11: 67,278,906	P17L	possibly damaging	Het
Myt1l	T	A	12: 29,811,652	D144E	unknown	Het
Nfatc1	T	C	18: 80,697,666	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,060,752	L418F	probably damaging	Het
Paxip1	A	G	5: 27,791,209	I24T	unknown	Het
Pdcl	C	T	2: 37,352,237	G167E	probably damaging	Het
Pdcl	A	C	2: 37,352,239	S166R	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Qsox1	C	T	1: 155,812,787	G5S	unknown	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Sass6	T	A	3: 116,628,770	S641T	possibly damaging	Het
Six1	T	C	12: 73,043,809	N194S	probably benign	Het
Tagap	T	C	17: 7,926,938		probably null	Het
Tiparp	T	C	3: 65,553,525	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,020,464	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,452,850	R352L	probably benign	Het
Tslp	A	G	18: 32,817,193	E105G	possibly damaging	Het
Ttc41	A	G	10: 86,776,047	E1093G	probably benign	Het
Ush2a	G	A	1: 188,728,600	R2686H	probably benign	Het
Usp54	A	T	14: 20,576,968	Y541N	probably damaging	Het

Other mutations in Gm340

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB013:Gm340	UTSW	19	41582569	missense	probably benign
R0006:Gm340	UTSW	19	41584899	missense	probably benign	0.00
R0686:Gm340	UTSW	19	41582372	missense	possibly damaging	0.73
R1104:Gm340	UTSW	19	41586063	missense	probably damaging	0.99
R1278:Gm340	UTSW	19	41584683	missense	probably benign	0.07
R1606:Gm340	UTSW	19	41585074	missense	probably benign	0.35
R1833:Gm340	UTSW	19	41584948	missense	probably benign	0.00
R1905:Gm340	UTSW	19	41583574	missense	possibly damaging	0.73
R2697:Gm340	UTSW	19	41584027	missense	probably benign	0.43
R2881:Gm340	UTSW	19	41583049	missense	probably damaging	1.00
R4720:Gm340	UTSW	19	41585895	missense	probably benign	0.04
R4864:Gm340	UTSW	19	41585364	missense	probably benign
R4908:Gm340	UTSW	19	41584162	missense	probably benign	0.00
R5193:Gm340	UTSW	19	41582530	missense	probably damaging	1.00
R5215:Gm340	UTSW	19	41585932	missense	probably damaging	1.00
R5276:Gm340	UTSW	19	41585039	missense	probably damaging	0.98
R5319:Gm340	UTSW	19	41586352	missense	probably damaging	0.99
R5321:Gm340	UTSW	19	41585204	missense	probably damaging	1.00
R5432:Gm340	UTSW	19	41584603	missense	probably damaging	1.00
R5605:Gm340	UTSW	19	41582863	missense	probably damaging	1.00
R5941:Gm340	UTSW	19	41586400	missense	probably damaging	1.00
R6020:Gm340	UTSW	19	41583547	missense	possibly damaging	0.88
R6024:Gm340	UTSW	19	41583957	missense	possibly damaging	0.84
R6149:Gm340	UTSW	19	41585202	missense	probably damaging	1.00
R6260:Gm340	UTSW	19	41582370	missense	probably null	0.91
R6260:Gm340	UTSW	19	41582371	missense	possibly damaging	0.73
R6476:Gm340	UTSW	19	41583079	missense	probably benign	0.04
R7051:Gm340	UTSW	19	41585752	missense	probably benign	0.05
R7285:Gm340	UTSW	19	41584315	missense	possibly damaging	0.91
R7372:Gm340	UTSW	19	41585506	missense	probably damaging	1.00
R7762:Gm340	UTSW	19	41583667	missense	probably benign	0.02
R7833:Gm340	UTSW	19	41584585	missense	probably benign	0.02
R7926:Gm340	UTSW	19	41582569	missense	probably benign
R8164:Gm340	UTSW	19	41585410	missense	probably damaging	1.00
R8319:Gm340	UTSW	19	41582904	missense	probably damaging	1.00
R8323:Gm340	UTSW	19	41583597	missense	probably benign	0.01
R8327:Gm340	UTSW	19	41582557	missense	probably damaging	1.00
R8423:Gm340	UTSW	19	41585449	missense	possibly damaging	0.95
X0013:Gm340	UTSW	19	41584532	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCAAAGTCTGGCTGCAGTG -3'
(R):5'- GATGGAGGCTGACATCATCTTGG -3'

Sequencing Primer
(F):5'- TCTGGCTGCAGTGGAAGAG -3'
(R):5'- ACCATTGGATGCTCTGTGTACAG -3'

Posted On

2020-08-01