Mutagenetix > Incidental Mutation

Incidental Mutation 'R8498:Gm527'

658388

Institutional Source

Beutler Lab

Gene Symbol

Gm527

Ensembl Gene

ENSMUSG00000047227

Gene Name

predicted gene 527

Synonyms

LOC217648

MMRRC Submission

067940-MU

Accession Numbers

Essential gene?

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

Stock #

R8498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64964685-64971365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64967782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 68 (V68D)

Ref Sequence

ENSEMBL: ENSMUSP00000152061 (fasta)

Gene Model

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

AlphaFold

Q4KL13

Predicted Effect

probably damaging
Transcript: ENSMUST00000058135
AA Change: V68D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220993
AA Change: V68D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223388
AA Change: V68D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,096,872 (GRCm39)		probably null	Het
Amigo1	A	G	3: 108,095,751 (GRCm39)	M417V	probably benign	Het
Celsr1	G	T	15: 85,823,306 (GRCm39)	Q1701K	probably benign	Het
Cfhr2	G	T	1: 139,741,219 (GRCm39)	T252K	possibly damaging	Het
Cntnap4	T	A	8: 113,602,211 (GRCm39)	V1205E	possibly damaging	Het
Ctsb	T	C	14: 63,370,881 (GRCm39)	I31T	probably benign	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dna2	A	G	10: 62,809,094 (GRCm39)	D1062G	probably benign	Het
Dnah7a	A	C	1: 53,657,139 (GRCm39)	M879R	probably benign	Het
Gcc1	C	A	6: 28,418,029 (GRCm39)	S768I	probably benign	Het
Gm29106	T	C	1: 118,128,218 (GRCm39)	Y637H	probably damaging	Het
Gm4787	T	C	12: 81,425,840 (GRCm39)	D106G	probably damaging	Het
Grm1	A	T	10: 10,955,605 (GRCm39)	Y226*	probably null	Het
Hkdc1	T	C	10: 62,221,662 (GRCm39)	R799G	probably benign	Het
Ier2	T	C	8: 85,389,353 (GRCm39)	I10V	probably damaging	Het
Ifi209	A	G	1: 173,470,069 (GRCm39)	N219S	probably benign	Het
Iqcn	T	C	8: 71,162,625 (GRCm39)	I606T	probably benign	Het
Krt88	A	G	15: 101,351,406 (GRCm39)	S138G	probably benign	Het
Lrrc3	T	C	10: 77,736,824 (GRCm39)	D204G	probably damaging	Het
Mllt6	T	C	11: 97,567,688 (GRCm39)	I705T	possibly damaging	Het
Mpl	G	A	4: 118,306,207 (GRCm39)	P278S	probably benign	Het
Nkx3-2	T	C	5: 41,920,989 (GRCm39)	E100G	probably benign	Het
Or13p8	A	T	4: 118,583,822 (GRCm39)	Y126F	possibly damaging	Het
Or56b1b	A	T	7: 108,164,833 (GRCm39)	C56*	probably null	Het
Or8b12b	G	A	9: 37,684,560 (GRCm39)	V202M	probably damaging	Het
Pcdh15	G	A	10: 74,317,974 (GRCm39)	V992I	probably damaging	Het
Pcdhgc5	A	G	18: 37,953,487 (GRCm39)	N254D	probably damaging	Het
Pdgfd	A	G	9: 6,288,655 (GRCm39)	E103G	probably damaging	Het
Ppp2r1b	C	T	9: 50,778,194 (GRCm39)	R304*	probably null	Het
Pramel30	A	G	4: 144,058,233 (GRCm39)	D280G	probably benign	Het
Prdm2	G	A	4: 142,907,467 (GRCm39)	A35V	probably damaging	Het
Psd	T	C	19: 46,312,788 (GRCm39)	N194S	probably damaging	Het
Rasgef1c	A	T	11: 49,862,248 (GRCm39)	E379V	probably damaging	Het
Rnf43	A	T	11: 87,618,267 (GRCm39)	I186F	probably damaging	Het
Ros1	C	T	10: 52,055,047 (GRCm39)	C85Y	probably damaging	Het
Setd2	T	A	9: 110,378,989 (GRCm39)	L935I	probably damaging	Het
Slc2a5	A	G	4: 150,210,590 (GRCm39)	Q46R	probably benign	Het
Ss18l1	A	T	2: 179,699,968 (GRCm39)	Q276L	probably damaging	Het
Tas2r129	A	T	6: 132,928,815 (GRCm39)	M251L	probably benign	Het
Thoc1	A	G	18: 9,989,693 (GRCm39)	E458G	probably benign	Het
Wdr35	T	A	12: 9,058,626 (GRCm39)	N594K	probably damaging	Het
Zzef1	T	A	11: 72,744,148 (GRCm39)	C835S	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
R6696:Gm527	UTSW	12	64,967,866 (GRCm39)	missense	possibly damaging	0.66
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

Predicted Primers

PCR Primer
(F):5'- TCAGGATGAAGACACTGTTTGAAG -3'
(R):5'- AGCAGTAACTCCCTTGAATGG -3'

Sequencing Primer
(F):5'- GATGAAGACACTGTTTGAAGAGATC -3'
(R):5'- GCAGTAACTCCCTTGAATGGTAGAC -3'

Posted On

2021-01-18