Mutagenetix > Incidental Mutation

Incidental Mutation 'R3546:Golga7b'

268217

Institutional Source

Beutler Lab

Gene Symbol

Golga7b

Ensembl Gene

ENSMUSG00000042532

Gene Name

golgin A7B

Synonyms

4933417O08Rik

MMRRC Submission

040665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R3546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42236017-42258787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42255510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 129 (M129T)

Ref Sequence

ENSEMBL: ENSMUSP00000112575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087123] [ENSMUST00000122375]

AlphaFold

Q9D428

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087123
AA Change: M129T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000084362
Gene: ENSMUSG00000042532
AA Change: M129T

Domain	Start	End	E-Value	Type
Pfam:Erf4	20	134	5.9e-36	PFAM
low complexity region	142	166	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122375
AA Change: M129T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112575
Gene: ENSMUSG00000042532
AA Change: M129T

Domain	Start	End	E-Value	Type
Pfam:Erf4	20	133	1.8e-36	PFAM
low complexity region	142	166	N/A	INTRINSIC

Meta Mutation Damage Score

0.3502

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,668,926 (GRCm39)		probably benign	Het
Bves	A	G	10: 45,230,907 (GRCm39)	R293G	probably damaging	Het
Ceacam1	T	C	7: 25,171,339 (GRCm39)	N375S	probably benign	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Cyth1	A	G	11: 118,083,262 (GRCm39)	V46A	probably damaging	Het
Ddx23	G	A	15: 98,548,613 (GRCm39)	T365M	probably damaging	Het
Etaa1	A	G	11: 17,903,823 (GRCm39)		probably benign	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Hdac7	G	T	15: 97,705,890 (GRCm39)	Q361K	probably damaging	Het
Itk	A	G	11: 46,246,675 (GRCm39)	L181P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Khdc4	A	G	3: 88,600,443 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Mei1	A	G	15: 81,982,243 (GRCm39)	Y677C	probably damaging	Het
Mslnl	T	C	17: 25,963,943 (GRCm39)	V424A	probably damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or6b13	A	G	7: 139,782,014 (GRCm39)	I223T	probably damaging	Het
Pdilt	C	A	7: 119,099,711 (GRCm39)	E186*	probably null	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Sult6b1	G	A	17: 79,214,336 (GRCm39)	T29I	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ush1g	T	A	11: 115,209,723 (GRCm39)	H157L	probably damaging	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het

Other mutations in Golga7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02988:Golga7b	UTSW	19	42,255,239 (GRCm39)	missense	probably damaging	1.00
R0025:Golga7b	UTSW	19	42,255,278 (GRCm39)	missense	probably damaging	1.00
R0374:Golga7b	UTSW	19	42,251,758 (GRCm39)	splice site	probably benign
R1962:Golga7b	UTSW	19	42,251,768 (GRCm39)	missense	probably benign	0.19
R3547:Golga7b	UTSW	19	42,255,510 (GRCm39)	missense	possibly damaging	0.84
R4864:Golga7b	UTSW	19	42,255,405 (GRCm39)	splice site	probably null
R6195:Golga7b	UTSW	19	42,251,886 (GRCm39)	missense	probably benign	0.13
R7051:Golga7b	UTSW	19	42,256,899 (GRCm39)	makesense	probably null
R8248:Golga7b	UTSW	19	42,255,310 (GRCm39)	missense	probably damaging	0.99
R9214:Golga7b	UTSW	19	42,255,440 (GRCm39)	missense	probably damaging	1.00
R9664:Golga7b	UTSW	19	42,255,462 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TATGAGAAGGTGTGGATTCCCC -3'
(R):5'- GGCTGACCTGTTTTAAGCAC -3'

Sequencing Primer
(F):5'- TGGATTCCCCATCTCCCC -3'
(R):5'- GACCTGTTTTAAGCACCAATGGC -3'

Posted On

2015-02-19