Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Gorab'

432502

Institutional Source

Beutler Lab

Gene Symbol

Gorab

Ensembl Gene

ENSMUSG00000040124

Gene Name

golgin, RAB6-interacting

Synonyms

NTKL-BP1, Scyl1bp1

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163212477-163231238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 163213871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 353 (D353A)

Ref Sequence

ENSEMBL: ENSMUSP00000036253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045138] [ENSMUST00000186402]

AlphaFold

Q8BRM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045138
AA Change: D353A

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: D353A

Domain	Start	End	E-Value	Type
Pfam:Transcrip_act	128	276	9.3e-11	PFAM
low complexity region	277	301	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186402

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,378 (GRCm39)	V85D	probably benign	Het
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,129,633 (GRCm39)	F38L	possibly damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,452,542 (GRCm39)	V519A	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Sfxn5	T	A	6: 85,309,582 (GRCm39)		probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Stx8	A	G	11: 67,911,792 (GRCm39)	Q170R	probably benign	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,128,968 (GRCm39)	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	Het

Other mutations in Gorab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Gorab	APN	1	163,222,256 (GRCm39)	missense	probably damaging	1.00
IGL00915:Gorab	APN	1	163,224,426 (GRCm39)	missense	probably benign	0.00
IGL01645:Gorab	APN	1	163,214,000 (GRCm39)	missense	possibly damaging	0.46
R0387:Gorab	UTSW	1	163,224,403 (GRCm39)	missense	probably benign	0.20
R0504:Gorab	UTSW	1	163,214,174 (GRCm39)	missense	probably damaging	1.00
R0612:Gorab	UTSW	1	163,224,738 (GRCm39)	missense	possibly damaging	0.93
R1863:Gorab	UTSW	1	163,231,131 (GRCm39)	missense	probably damaging	1.00
R1991:Gorab	UTSW	1	163,224,625 (GRCm39)	missense	probably damaging	0.99
R1992:Gorab	UTSW	1	163,224,625 (GRCm39)	missense	probably damaging	0.99
R2844:Gorab	UTSW	1	163,224,375 (GRCm39)	splice site	probably null
R4039:Gorab	UTSW	1	163,224,635 (GRCm39)	missense	possibly damaging	0.65
R4527:Gorab	UTSW	1	163,224,705 (GRCm39)	missense	possibly damaging	0.94
R4864:Gorab	UTSW	1	163,213,967 (GRCm39)	missense	probably benign
R5175:Gorab	UTSW	1	163,214,214 (GRCm39)	missense	probably damaging	1.00
R5470:Gorab	UTSW	1	163,220,078 (GRCm39)	missense	probably damaging	1.00
R6265:Gorab	UTSW	1	163,214,199 (GRCm39)	missense	possibly damaging	0.54
R6314:Gorab	UTSW	1	163,224,658 (GRCm39)	missense	probably damaging	1.00
R6355:Gorab	UTSW	1	163,214,138 (GRCm39)	missense	probably damaging	1.00
R7707:Gorab	UTSW	1	163,220,009 (GRCm39)	missense	probably damaging	1.00
R9400:Gorab	UTSW	1	163,224,567 (GRCm39)	missense	probably damaging	0.99
Z1088:Gorab	UTSW	1	163,231,119 (GRCm39)	nonsense	probably null
Z1088:Gorab	UTSW	1	163,213,892 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- GTCAACACTCCCTGGATAGG -3'
(R):5'- AGGTTGAACAGTTGCTTCGG -3'

Sequencing Primer
(F):5'- CTGACTTTGGAATGATCTGACATGC -3'
(R):5'- TTGAACAGTTGCTTCGGGAACAG -3'

Posted On

2016-10-05