Mutagenetix > Incidental Mutation

Incidental Mutation 'R5175:Gorab'

399089

Institutional Source

Beutler Lab

Gene Symbol

Gorab

Ensembl Gene

ENSMUSG00000040124

Gene Name

golgin, RAB6-interacting

Synonyms

NTKL-BP1, Scyl1bp1

MMRRC Submission

042755-MU

Accession Numbers

Essential gene?

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

Stock #

R5175 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163212477-163231238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 163214214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 239 (Q239K)

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: Q239K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: Q239K

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr2	A	C	11: 20,030,114 (GRCm39)	M215R	probably benign	Het
Ago2	A	T	15: 72,996,067 (GRCm39)	I354K	possibly damaging	Het
Angel2	T	A	1: 190,673,081 (GRCm39)	C72*	probably null	Het
Ank2	T	A	3: 126,797,673 (GRCm39)	H679L	probably damaging	Het
Anks1	A	T	17: 28,261,562 (GRCm39)	Q694L	probably damaging	Het
Aox3	C	T	1: 58,211,487 (GRCm39)	P1015S	probably benign	Het
Arhgap35	C	A	7: 16,296,524 (GRCm39)	R847L	probably damaging	Het
Bag4	C	A	8: 26,258,379 (GRCm39)	C316F	probably damaging	Het
Camkv	T	A	9: 107,824,581 (GRCm39)	I258N	probably damaging	Het
Cpt1c	G	A	7: 44,620,781 (GRCm39)	A28V	probably damaging	Het
Cyp2j13	A	T	4: 95,956,452 (GRCm39)	M219K	possibly damaging	Het
Dclk1	G	T	3: 55,154,648 (GRCm39)	R26L	possibly damaging	Het
Diras2	A	T	13: 52,662,007 (GRCm39)	I100N	probably damaging	Het
Dnah5	T	A	15: 28,448,550 (GRCm39)	N4204K	probably damaging	Het
Dnase1l3	T	A	14: 7,987,386 (GRCm38)	K55*	probably null	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Eif5b	A	G	1: 38,084,468 (GRCm39)	T819A	probably damaging	Het
Elfn2	A	T	15: 78,558,073 (GRCm39)	L158H	probably damaging	Het
Erp44	T	C	4: 48,196,823 (GRCm39)	T367A	probably benign	Het
Fasn	A	T	11: 120,707,195 (GRCm39)	D843E	probably benign	Het
Fbxw25	T	C	9: 109,493,631 (GRCm39)	Y20C	probably damaging	Het
Fer1l6	G	A	15: 58,422,126 (GRCm39)	G108E	probably damaging	Het
Fndc7	C	T	3: 108,776,482 (GRCm39)	V520I	probably benign	Het
Gm17019	A	G	5: 15,082,817 (GRCm39)	W46R	possibly damaging	Het
Gsdma2	A	G	11: 98,543,438 (GRCm39)	T76A	probably benign	Het
Hnrnpll	A	C	17: 80,341,499 (GRCm39)	C513W	possibly damaging	Het
Ifrd2	T	C	9: 107,467,824 (GRCm39)	L170P	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnma1	A	G	14: 23,386,106 (GRCm39)		probably null	Het
Kcnn3	T	C	3: 89,516,746 (GRCm39)	F385S	probably damaging	Het
Kif18a	T	G	2: 109,133,323 (GRCm39)		probably null	Het
Llgl2	A	G	11: 115,741,547 (GRCm39)	K559R	probably damaging	Het
Lrrc8a	T	C	2: 30,145,524 (GRCm39)	C113R	probably damaging	Het
Mgat5	A	G	1: 127,387,649 (GRCm39)	N535S	probably damaging	Het
Myh15	T	G	16: 48,889,789 (GRCm39)	W127G	possibly damaging	Het
Npsr1	A	G	9: 24,046,111 (GRCm39)	R77G	probably benign	Het
Nub1	T	A	5: 24,907,446 (GRCm39)	S376R	probably benign	Het
Or14c44	T	C	7: 86,062,254 (GRCm39)	V228A	probably benign	Het
Or4d10c	G	A	19: 12,065,926 (GRCm39)	P77S	probably damaging	Het
Or4k47	A	T	2: 111,451,771 (GRCm39)	I216N	possibly damaging	Het
Or5al6	T	C	2: 85,976,301 (GRCm39)	Y259C	probably damaging	Het
Or9i2	G	A	19: 13,815,680 (GRCm39)	P286S	probably damaging	Het
Pcdh9	A	G	14: 94,125,879 (GRCm39)	L97P	probably damaging	Het
Pkn2	A	G	3: 142,504,684 (GRCm39)	Y831H	probably damaging	Het
Plcz1	T	G	6: 139,985,389 (GRCm39)	I51L	possibly damaging	Het
Plekhg1	T	C	10: 3,915,516 (GRCm39)		probably benign	Het
Prdm9	A	T	17: 15,777,713 (GRCm39)	S124T	probably benign	Het
Prkag1	A	C	15: 98,713,596 (GRCm39)	V33G	possibly damaging	Het
Rab25	T	A	3: 88,450,728 (GRCm39)	Y57F	possibly damaging	Het
Rb1cc1	A	G	1: 6,318,545 (GRCm39)	I638V	probably benign	Het
Rest	C	A	5: 77,416,219 (GRCm39)	D144E	probably damaging	Het
Rpa2	A	G	4: 132,505,151 (GRCm39)	D260G	probably damaging	Het
Sf3b3	A	G	8: 111,560,467 (GRCm39)	V425A	probably benign	Het
Sidt2	A	T	9: 45,863,086 (GRCm39)	M15K	probably damaging	Het
Slc22a17	A	G	14: 55,144,748 (GRCm39)	L555P	probably damaging	Het
Smoc2	A	G	17: 14,595,719 (GRCm39)	D282G	possibly damaging	Het
Sorcs3	G	A	19: 48,748,284 (GRCm39)		probably null	Het
Spmap2l	C	T	5: 77,164,317 (GRCm39)	P107S	probably benign	Het
Srcin1	A	G	11: 97,464,703 (GRCm39)	W15R	probably damaging	Het
Stra6l	A	G	4: 45,870,860 (GRCm39)	T259A	probably benign	Het
Ube3a	T	C	7: 58,938,465 (GRCm39)	F741S	probably damaging	Het
Vasp	C	A	7: 18,998,594 (GRCm39)	M54I	probably benign	Het
Vmn1r174	A	T	7: 23,454,153 (GRCm39)	H273L	probably benign	Het
Vmn2r50	T	A	7: 9,771,644 (GRCm39)	I686F	probably damaging	Het
Vmn2r76	T	C	7: 85,877,915 (GRCm39)	E494G	probably benign	Het
Zfp788	A	G	7: 41,298,753 (GRCm39)	E443G	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
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'- GGACACAGCCTCTCTACAGAAG -3'
(R):5'- CTAGCTTTCCCTAGGTGGTG -3'

Sequencing Primer
(F):5'- CTCTACAGAAGCCATTTGTTTGG -3'
(R):5'- GGTGTTGGCAATTGTTAAAGTATCAC -3'

Posted On

2016-07-06