Mutagenetix > Incidental Mutation

Incidental Mutation 'R4529:Gm5460'

333047

Institutional Source

Beutler Lab

Gene Symbol

Gm5460

Ensembl Gene

ENSMUSG00000072624

Gene Name

predicted gene 5460

Synonyms

MMRRC Submission

041592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33738252-33769071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33767769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 459 (D459A)

Ref Sequence

ENSEMBL: ENSMUSP00000154683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100719] [ENSMUST00000227383]

AlphaFold

Q3UQ97

Predicted Effect

probably damaging
Transcript: ENSMUST00000100719
AA Change: D184A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098285
Gene: ENSMUSG00000072624
AA Change: D184A

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
low complexity region	24	82	N/A	INTRINSIC
transmembrane domain	86	108	N/A	INTRINSIC
low complexity region	133	150	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000227383
AA Change: D459A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227522

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	A	G	17: 57,727,519 (GRCm39)	Y483C	possibly damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Aldh1a3	T	C	7: 66,051,742 (GRCm39)	N404D	probably benign	Het
Ankrd2	A	T	19: 42,032,240 (GRCm39)	I231F	probably benign	Het
Apba1	A	G	19: 23,913,899 (GRCm39)	N641D	probably damaging	Het
C1qbp	T	C	11: 70,869,550 (GRCm39)	T178A	probably benign	Het
Chtf18	T	C	17: 25,939,592 (GRCm39)	Y64C	probably damaging	Het
Cyp1a1	A	G	9: 57,608,962 (GRCm39)	H281R	probably benign	Het
Ehmt2	A	G	17: 35,132,707 (GRCm39)	I1235V	probably damaging	Het
Fcamr	A	G	1: 130,732,313 (GRCm39)	H44R	probably damaging	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
H2-Q6	C	T	17: 35,644,820 (GRCm39)	T203I	probably null	Het
Inmt	T	C	6: 55,148,012 (GRCm39)	M206V	probably benign	Het
Khdc3	T	C	9: 73,011,301 (GRCm39)	S360P	possibly damaging	Het
Lin54	G	A	5: 100,594,419 (GRCm39)	T582I	possibly damaging	Het
Ltbp1	T	G	17: 75,458,355 (GRCm39)	V312G	probably benign	Het
Nlrp9a	T	C	7: 26,270,832 (GRCm39)	L899P	probably damaging	Het
Or6c1b	T	C	10: 129,273,287 (GRCm39)	V202A	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pappa	A	G	4: 65,149,419 (GRCm39)	I920V	probably benign	Het
Parp1	T	A	1: 180,418,877 (GRCm39)	V679E	probably damaging	Het
Pla2g4f	C	T	2: 120,131,100 (GRCm39)	R785Q	probably damaging	Het
Plbd1	T	A	6: 136,628,823 (GRCm39)	I82F	probably benign	Het
Plekhm3	A	G	1: 64,976,984 (GRCm39)	V162A	probably benign	Het
Plin4	A	G	17: 56,411,274 (GRCm39)	L919P	probably damaging	Het
Plxna4	C	T	6: 32,473,831 (GRCm39)		probably null	Het
Pou3f3	C	A	1: 42,737,714 (GRCm39)	T470K	probably benign	Het
Prss38	T	C	11: 59,264,325 (GRCm39)	Y214C	probably damaging	Het
Retreg1	T	A	15: 25,968,600 (GRCm39)	Y109N	probably damaging	Het
Slco1c1	A	G	6: 141,500,907 (GRCm39)	Y413C	probably damaging	Het
Stk32a	T	C	18: 43,376,044 (GRCm39)	C38R	possibly damaging	Het
Themis	T	C	10: 28,658,331 (GRCm39)	F453L	possibly damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tubgcp3	G	T	8: 12,713,932 (GRCm39)	L62I	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Xpo7	G	A	14: 70,906,188 (GRCm39)	T986M	probably damaging	Het
Zfp51	C	T	17: 21,684,998 (GRCm39)	L538F	probably damaging	Het
Zfy1	A	G	Y: 726,511 (GRCm39)	L418S	possibly damaging	Het

Other mutations in Gm5460

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Gm5460	APN	14	33,765,909 (GRCm39)	splice site	probably benign
R2483:Gm5460	UTSW	14	33,767,775 (GRCm39)	missense	possibly damaging	0.83
R5688:Gm5460	UTSW	14	33,767,752 (GRCm39)	missense	possibly damaging	0.82
R7123:Gm5460	UTSW	14	33,763,982 (GRCm39)	missense	unknown
R7394:Gm5460	UTSW	14	33,765,879 (GRCm39)	missense	possibly damaging	0.81
R7420:Gm5460	UTSW	14	33,758,714 (GRCm39)	missense	probably damaging	0.98
R7756:Gm5460	UTSW	14	33,757,114 (GRCm39)	missense	probably benign	0.22
R7758:Gm5460	UTSW	14	33,757,114 (GRCm39)	missense	probably benign	0.22
R8220:Gm5460	UTSW	14	33,767,876 (GRCm39)	missense	probably damaging	0.96
R8491:Gm5460	UTSW	14	33,761,740 (GRCm39)	missense	probably damaging	0.97
R8549:Gm5460	UTSW	14	33,758,892 (GRCm39)	missense	possibly damaging	0.80
R8737:Gm5460	UTSW	14	33,739,149 (GRCm39)	missense	unknown
R9029:Gm5460	UTSW	14	33,739,326 (GRCm39)	missense
R9199:Gm5460	UTSW	14	33,758,393 (GRCm39)	missense	possibly damaging	0.92
R9432:Gm5460	UTSW	14	33,767,769 (GRCm39)	missense	possibly damaging	0.90
Z1177:Gm5460	UTSW	14	33,767,791 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GGGGAAGAGAAGACCCTTCATC -3'
(R):5'- TGGGTCCAAATTAGCAGCAAAG -3'

Sequencing Primer
(F):5'- TTCATCCAGGACCACCCTATG -3'
(R):5'- GAAAACCTCTCAATATTGCCTCTGTG -3'

Posted On

2015-08-18