Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Gorab'

594311

Institutional Source

Beutler Lab

Gene Symbol

Gorab

Ensembl Gene

ENSMUSG00000040124

Gene Name

golgin, RAB6-interacting

Synonyms

NTKL-BP1, Scyl1bp1

MMRRC Submission

067893-MU

Accession Numbers

Essential gene?

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

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163212477-163231238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163220009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 211 (D211G)

Ref Sequence

ENSEMBL: ENSMUSP00000036253 (fasta)

Gene Model

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

AlphaFold

Q8BRM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000045138
AA Change: D211G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: D211G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,285,852 (GRCm39)	M1L	probably benign	Het
Ap1s3	T	C	1: 79,591,964 (GRCm39)	K129E	probably benign	Het
Ap3b2	C	T	7: 81,126,530 (GRCm39)	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,142,523 (GRCm39)	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968 (GRCm39)	H401R	probably benign	Het
Bpi	A	T	2: 158,103,093 (GRCm39)	E79D	probably benign	Het
Cant1	C	T	11: 118,301,724 (GRCm39)	V198M	possibly damaging	Het
Casp9	C	T	4: 141,532,778 (GRCm39)	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,834,837 (GRCm39)	R82L	probably benign	Het
Cfap251	A	T	5: 123,391,950 (GRCm39)	E28V	probably benign	Het
Chrm4	A	G	2: 91,757,699 (GRCm39)	T36A	probably benign	Het
Cntln	A	T	4: 84,802,853 (GRCm39)	D51V	probably damaging	Het
Commd8	A	T	5: 72,320,081 (GRCm39)	F120Y	probably damaging	Het
Cpne6	A	C	14: 55,753,771 (GRCm39)	T410P	probably damaging	Het
Ctnnb1	A	T	9: 120,781,931 (GRCm39)	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,009,784 (GRCm39)	V701A	probably damaging	Het
Efcab9	A	G	11: 32,472,851 (GRCm39)	Y199H	possibly damaging	Het
Endou	T	A	15: 97,610,983 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,583,560 (GRCm39)	V412A	probably benign	Het
Foxc2	C	T	8: 121,844,641 (GRCm39)	P430S	probably benign	Het
Gas2l3	T	A	10: 89,250,220 (GRCm39)	K299N	probably damaging	Het
Gm10375	G	A	14: 43,842,332 (GRCm39)	Q133*	probably null	Het
Grin3b	T	A	10: 79,811,735 (GRCm39)	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,347,120 (GRCm39)		probably benign	Het
Gucy2d	T	C	7: 98,100,876 (GRCm39)	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,591,156 (GRCm39)	V55M		Het
Igsf3	A	G	3: 101,367,238 (GRCm39)	N1157S	probably benign	Het
Irak3	A	T	10: 119,982,489 (GRCm39)	D324E	probably damaging	Het
Jup	G	T	11: 100,273,878 (GRCm39)	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr4	A	G	2: 109,827,936 (GRCm39)		probably null	Het
Lrrc34	T	C	3: 30,679,041 (GRCm39)	D352G	probably benign	Het
Metrn	C	A	17: 26,014,384 (GRCm39)	A175S	probably benign	Het
Nr2c1	T	A	10: 94,024,027 (GRCm39)	S411T	probably benign	Het
Or4c11	A	G	2: 88,695,153 (GRCm39)	D68G	possibly damaging	Het
Or5h22	T	A	16: 58,894,634 (GRCm39)	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691 (GRCm39)	K172*	probably null	Het
Oxnad1	A	G	14: 31,823,965 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,877,672 (GRCm39)	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,144,845 (GRCm39)	N312I	probably benign	Het
Pds5a	G	T	5: 65,767,476 (GRCm39)	P121Q	unknown	Het
Phc1	A	G	6: 122,300,739 (GRCm39)	I380T	unknown	Het
Phldb3	C	A	7: 24,326,022 (GRCm39)	H535N	possibly damaging	Het
Proser3	T	C	7: 30,239,216 (GRCm39)	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,295 (GRCm39)	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,726,586 (GRCm39)	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,824,077 (GRCm39)	D268Y	probably null	Het
Rapgef5	A	C	12: 117,679,079 (GRCm39)	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,582,605 (GRCm39)	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,324,418 (GRCm39)	D982V	probably damaging	Het
Sbf2	T	C	7: 109,929,920 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,604,043 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,993,725 (GRCm39)	S798F	unknown	Het
Slc15a5	A	T	6: 138,056,745 (GRCm39)	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,391,571 (GRCm39)	C284*	probably null	Het
Src	G	A	2: 157,306,578 (GRCm39)	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,616,726 (GRCm39)	T84A	probably damaging	Het
Sspo	A	T	6: 48,438,461 (GRCm39)	T1510S	probably benign	Het
Taar1	A	T	10: 23,797,135 (GRCm39)	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,185,583 (GRCm39)	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,132,207 (GRCm39)	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 99,027,295 (GRCm39)	T7A	probably benign	Het
Traf7	A	T	17: 24,729,683 (GRCm39)		probably null	Het
Trbv19	G	A	6: 41,155,547 (GRCm39)	V9I	possibly damaging	Het
Trim17	C	T	11: 58,856,110 (GRCm39)	Q56*	probably null	Het
Ttn	G	T	2: 76,732,406 (GRCm39)	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,229,367 (GRCm39)		probably null	Het
Uso1	A	G	5: 92,349,795 (GRCm39)	*960W	probably null	Het
Usp2	G	T	9: 43,984,757 (GRCm39)		probably null	Het
Wdr20rt	A	G	12: 65,272,981 (GRCm39)	D148G	probably damaging	Het
Wif1	T	C	10: 120,919,864 (GRCm39)	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645 (GRCm39)	D750G	probably benign	Het
Zfp1006	A	T	8: 129,945,660 (GRCm39)	C388*	probably null	Het
Zmynd12	A	T	4: 119,302,063 (GRCm39)	D234V	probably damaging	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
R5485:Gorab	UTSW	1	163,213,871 (GRCm39)	missense	possibly damaging	0.55
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
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'- TAAGCTATAGGACAGGTGGCC -3'
(R):5'- GCACAGGGCATTATTTTGTCTC -3'

Sequencing Primer
(F):5'- GGCCACTTGAGTTAGCACATTACTG -3'
(R):5'- CACAGGGCATTATTTTGTCTCAATTC -3'

Posted On

2019-11-12