Mutagenetix > Incidental Mutation

Incidental Mutation 'R6696:Gm527'

528596

Institutional Source

Beutler Lab

Gene Symbol

Gm527

Ensembl Gene

ENSMUSG00000047227

Gene Name

predicted gene 527

Synonyms

LOC217648

MMRRC Submission

044814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6696 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64964685-64971365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64967866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 96 (M96T)

Ref Sequence

ENSEMBL: ENSMUSP00000152061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058135] [ENSMUST00000220993] [ENSMUST00000223388]

AlphaFold

Q4KL13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058135
AA Change: M96T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220928

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220993
AA Change: M96T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223388
AA Change: M96T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.5203

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	G	T	6: 87,442,633 (GRCm39)	H350Q	probably damaging	Het
Arhgap25	C	A	6: 87,443,545 (GRCm39)	V305F	probably damaging	Het
Atg3	A	T	16: 44,995,644 (GRCm39)	I126F	possibly damaging	Het
Best2	A	T	8: 85,737,873 (GRCm39)	L174*	probably null	Het
Ccdc134	T	A	15: 82,015,722 (GRCm39)	D67E	probably damaging	Het
Coasy	G	T	11: 100,973,927 (GRCm39)	R31L	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dhrs7l	C	T	12: 72,666,255 (GRCm39)	A139T	possibly damaging	Het
Eipr1	C	A	12: 28,909,357 (GRCm39)	T208N	probably benign	Het
Epha2	A	G	4: 141,048,850 (GRCm39)	T606A	probably benign	Het
Fan1	A	T	7: 63,999,826 (GRCm39)	I853N	probably damaging	Het
Fbxw18	A	C	9: 109,517,832 (GRCm39)	S385A	probably benign	Het
Galnt11	T	C	5: 25,460,112 (GRCm39)	V307A	probably benign	Het
Gata3	A	T	2: 9,879,303 (GRCm39)	Y224*	probably null	Het
Hivep2	T	C	10: 14,009,503 (GRCm39)	F1720S	probably benign	Het
Hltf	T	G	3: 20,119,470 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,327 (GRCm39)	V247A	probably benign	Het
Iqca1	G	A	1: 90,057,922 (GRCm39)	T259I	probably benign	Het
Klra6	A	G	6: 129,993,696 (GRCm39)	F192L	probably benign	Het
Lnp1	T	C	16: 56,748,149 (GRCm39)	K48E	possibly damaging	Het
Lrp4	A	G	2: 91,327,690 (GRCm39)	D1513G	probably benign	Het
Lrrc25	G	A	8: 71,071,015 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,403,596 (GRCm39)	Y590F	probably damaging	Het
Mms19	C	A	19: 41,942,452 (GRCm39)	V359L	probably benign	Het
Mns1	G	A	9: 72,360,044 (GRCm39)	R398Q	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme3	G	T	17: 25,116,268 (GRCm39)	C158F	possibly damaging	Het
Pam	T	A	1: 97,813,452 (GRCm39)	H326L	possibly damaging	Het
Plcxd1	A	G	5: 110,249,751 (GRCm39)	N151S	possibly damaging	Het
Prep	A	T	10: 45,029,174 (GRCm39)	N525Y	probably damaging	Het
Rab11fip5	T	C	6: 85,318,928 (GRCm39)	I654V	possibly damaging	Het
Sbf2	T	A	7: 110,159,505 (GRCm39)	Q35L	probably benign	Het
Shcbp1	A	G	8: 4,789,262 (GRCm39)	F519S	probably damaging	Het
Slc18a3	T	C	14: 32,186,270 (GRCm39)	I38V	possibly damaging	Het
Slc5a2	A	T	7: 127,869,215 (GRCm39)	I332F	probably damaging	Het
Slc7a7	C	T	14: 54,615,218 (GRCm39)		probably null	Het
Srbd1	C	T	17: 86,446,619 (GRCm39)	V47I	possibly damaging	Het
Synj1	C	G	16: 90,757,340 (GRCm39)	V877L	probably damaging	Het
Tgfbr3	C	T	5: 107,284,796 (GRCm39)	V618I	probably benign	Het
Tmem191	C	T	16: 17,100,886 (GRCm39)		probably null	Het
Tmem67	C	A	4: 12,061,754 (GRCm39)		probably null	Het
Tmem94	C	T	11: 115,682,814 (GRCm39)	A617V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,401 (GRCm39)	I96F	probably damaging	Het
Vmn2r7	A	T	3: 64,614,495 (GRCm39)	F440I	probably benign	Het
Wdr7	A	G	18: 63,872,401 (GRCm39)	Q445R	probably benign	Het
Wnk1	A	G	6: 119,925,243 (GRCm39)	L1407P	probably damaging	Het

Other mutations in Gm527

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03171:Gm527	APN	12	64,967,931 (GRCm39)	missense	probably damaging	0.99
IGL03354:Gm527	APN	12	64,969,154 (GRCm39)	missense	probably damaging	0.96
R1905:Gm527	UTSW	12	64,967,797 (GRCm39)	missense	possibly damaging	0.94
R3951:Gm527	UTSW	12	64,970,276 (GRCm39)	splice site	probably benign
R5155:Gm527	UTSW	12	64,970,381 (GRCm39)	missense	probably damaging	0.99
R5747:Gm527	UTSW	12	64,967,620 (GRCm39)	missense	probably damaging	0.99
R6358:Gm527	UTSW	12	64,970,322 (GRCm39)	missense	possibly damaging	0.92
R7496:Gm527	UTSW	12	64,969,184 (GRCm39)	missense	possibly damaging	0.75
R8266:Gm527	UTSW	12	64,967,719 (GRCm39)	missense	probably damaging	0.99
R8498:Gm527	UTSW	12	64,967,782 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAAAGCAGTATCTTGTACACCC -3'
(R):5'- ATGGTGCGCTGCTGATCTTC -3'

Sequencing Primer
(F):5'- GTACACCCCTCTATGTTGAGATCAG -3'
(R):5'- GTGCCAGTTAGAGCAGTAACTCC -3'

Posted On

2018-07-24