Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Gorab'

54778

Institutional Source

Beutler Lab

Gene Symbol

Gorab

Ensembl Gene

ENSMUSG00000040124

Gene Name

golgin, RAB6-interacting

Synonyms

NTKL-BP1, Scyl1bp1

MMRRC Submission

038801-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R0612 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

163212477-163231238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163224738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 21 (D21G)

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: D21G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: D21G

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

noncoding transcript
Transcript: ENSMUST00000185299

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186402
AA Change: D21G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,936,478 (GRCm39)	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,105,445 (GRCm39)	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,254,596 (GRCm39)	S30G	probably benign	Het
Atp9b	T	C	18: 80,797,171 (GRCm39)	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,710,425 (GRCm39)	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,946,537 (GRCm39)	V448I	probably damaging	Het
Cab39	T	C	1: 85,746,236 (GRCm39)		probably null	Het
Cacna2d4	G	T	6: 119,258,679 (GRCm39)		probably benign	Het
Capzb	C	T	4: 139,018,340 (GRCm39)	S253L	probably benign	Het
Ccdc174	A	G	6: 91,867,873 (GRCm39)		probably benign	Het
Ccdc180	C	T	4: 45,927,969 (GRCm39)	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,820,900 (GRCm39)		probably benign	Het
Cdh8	T	C	8: 100,127,546 (GRCm39)	T22A	probably benign	Het
Cdk10	T	C	8: 123,957,419 (GRCm39)	V181A	probably benign	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cftr	A	C	6: 18,198,125 (GRCm39)	T20P	probably benign	Het
Cip2a	C	T	16: 48,819,402 (GRCm39)	A112V	probably benign	Het
Clstn3	T	C	6: 124,426,459 (GRCm39)	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003 (GRCm39)	V165I	unknown	Het
Copg2	A	T	6: 30,838,404 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,178,929 (GRCm39)	H47R	probably benign	Het
Cytip	T	C	2: 58,024,202 (GRCm39)	D206G	possibly damaging	Het
Dcaf8l	G	A	X: 88,448,972 (GRCm39)	R386*	probably null	Het
Dnmt1	C	T	9: 20,829,489 (GRCm39)	E824K	probably damaging	Het
Dock7	A	C	4: 98,877,470 (GRCm39)	V442G	probably benign	Het
Dsc1	T	G	18: 20,247,573 (GRCm39)	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,582,930 (GRCm39)	P371L	probably damaging	Het
Enah	A	G	1: 181,734,013 (GRCm39)		probably benign	Het
Entrep2	C	T	7: 64,411,549 (GRCm39)	V395M	probably benign	Het
Fastkd1	T	C	2: 69,542,727 (GRCm39)	T27A	probably benign	Het
Fcho1	A	G	8: 72,168,168 (GRCm39)	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,028 (GRCm39)	V268D	probably damaging	Het
Fgd2	T	A	17: 29,597,321 (GRCm39)	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682 (GRCm38)		probably benign	Het
Gabrg3	A	G	7: 56,379,454 (GRCm39)	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,376,802 (GRCm39)	F1265L	probably damaging	Het
Git2	A	G	5: 114,890,342 (GRCm39)	S271P	probably damaging	Het
Gpr179	T	A	11: 97,229,264 (GRCm39)	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,087,078 (GRCm39)	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,140,540 (GRCm39)	T149S	probably damaging	Het
Igsf8	G	T	1: 172,146,974 (GRCm39)	*108L	probably null	Het
Il1rap	C	T	16: 26,519,855 (GRCm39)	T307M	possibly damaging	Het
Itih2	T	C	2: 10,122,205 (GRCm39)	D232G	probably benign	Het
Jak3	A	G	8: 72,136,021 (GRCm39)	Y607C	probably damaging	Het
Kcnh1	C	T	1: 191,959,361 (GRCm39)	P305L	probably damaging	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,865,466 (GRCm39)	L177P	probably damaging	Het
Lypd8l	A	G	11: 58,502,799 (GRCm39)		probably null	Het
Map4k3	C	A	17: 80,909,622 (GRCm39)	K712N	probably damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mmp14	A	G	14: 54,677,891 (GRCm39)	D504G	probably damaging	Het
Mob1a	A	G	6: 83,311,140 (GRCm39)	T120A	probably benign	Het
Mr1	T	A	1: 155,013,436 (GRCm39)	D47V	probably damaging	Het
Nacad	G	T	11: 6,551,382 (GRCm39)	A603E	possibly damaging	Het
Nwd1	T	A	8: 73,394,308 (GRCm39)	W524R	probably damaging	Het
Or11g26	A	T	14: 50,752,939 (GRCm39)	T93S	probably benign	Het
Or13a19	T	A	7: 139,903,101 (GRCm39)	M163K	possibly damaging	Het
Or4e1	T	C	14: 52,701,008 (GRCm39)	T153A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pde6c	T	A	19: 38,121,694 (GRCm39)	C101S	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdlim4	G	A	11: 53,959,713 (GRCm39)	R16C	probably damaging	Het
Pfkp	A	G	13: 6,655,670 (GRCm39)		probably null	Het
Plcg2	T	A	8: 118,300,104 (GRCm39)	S225T	probably benign	Het
Pramel1	T	C	4: 143,124,101 (GRCm39)	S259P	probably damaging	Het
Pramel27	G	T	4: 143,578,658 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,301,227 (GRCm39)	N92D	possibly damaging	Het
Ric8b	C	A	10: 84,837,745 (GRCm39)	N517K	probably damaging	Het
Rnf34	G	A	5: 123,002,237 (GRCm39)	R65H	probably damaging	Het
Rraga	C	T	4: 86,494,564 (GRCm39)	R137C	probably damaging	Het
Scube2	C	T	7: 109,403,971 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,352,179 (GRCm39)	M339T	probably damaging	Het
Spata31d1d	T	C	13: 59,875,787 (GRCm39)	I583V	probably benign	Het
Suox	T	C	10: 128,506,525 (GRCm39)	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561 (GRCm39)		probably benign	Het
Tac1	T	C	6: 7,555,653 (GRCm39)	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,411,596 (GRCm39)	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,524,344 (GRCm39)	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,334,198 (GRCm39)	V662M	probably damaging	Het
Upf2	G	T	2: 6,038,909 (GRCm39)		probably benign	Het
Uspl1	A	G	5: 149,151,767 (GRCm39)	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,413,618 (GRCm39)	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,816,481 (GRCm39)	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,803 (GRCm39)	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het
Yeats2	T	G	16: 20,005,175 (GRCm39)	V385G	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
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
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'- AGCTTTCCATCGCCAGAGGAAGAG -3'
(R):5'- TTGCACCCAGGAAAATGGCTGAC -3'

Sequencing Primer
(F):5'- AGGAGAGCGTGGCTTTTGAC -3'
(R):5'- AAAATGGCTGACTTTTCCTGG -3'

Posted On

2013-07-11