Mutagenetix > Incidental Mutation

Incidental Mutation 'R5470:Gorab'

433440

Institutional Source

Beutler Lab

Gene Symbol

Gorab

Ensembl Gene

ENSMUSG00000040124

Gene Name

golgin, RAB6-interacting

Synonyms

NTKL-BP1, Scyl1bp1

MMRRC Submission

043031-MU

Accession Numbers

Essential gene?

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

Stock #

R5470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163212477-163231238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163220078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 188 (I188T)

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: I188T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: I188T

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

probably benign
Transcript: ENSMUST00000186402

Meta Mutation Damage Score

0.3913

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,215,715 (GRCm39)	I813F	probably damaging	Het
Aqr	G	A	2: 113,988,056 (GRCm39)	L169F	probably damaging	Het
Atp6v1d	G	A	12: 78,892,058 (GRCm39)	R182C	probably benign	Het
Bcl2l13	G	T	6: 120,839,833 (GRCm39)	A44S	probably benign	Het
Brip1	T	C	11: 86,039,368 (GRCm39)	K389E	possibly damaging	Het
C530025M09Rik	G	A	2: 149,673,045 (GRCm39)		probably benign	Het
Ccdc7b	T	A	8: 129,799,081 (GRCm39)	S53T	possibly damaging	Het
Chd8	A	G	14: 52,450,066 (GRCm39)	F154L	probably damaging	Het
Cop1	A	T	1: 159,094,430 (GRCm39)		probably benign	Het
Cyp2c39	A	G	19: 39,501,974 (GRCm39)	K121R	possibly damaging	Het
Cyp3a57	A	G	5: 145,309,429 (GRCm39)	M256V	probably benign	Het
Deup1	T	C	9: 15,493,916 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,830,232 (GRCm39)	N709D	probably benign	Het
Dthd1	A	G	5: 62,976,109 (GRCm39)	Y261C	probably damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
En2	C	T	5: 28,371,922 (GRCm39)	T133M	probably benign	Het
Endou	A	G	15: 97,616,836 (GRCm39)	F229S	probably damaging	Het
Etl4	A	T	2: 20,534,791 (GRCm39)	H79L	probably damaging	Het
Fah	C	T	7: 84,242,393 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fignl1	T	A	11: 11,752,640 (GRCm39)	E138D	probably benign	Het
Fndc3a	A	G	14: 72,812,008 (GRCm39)	L311P	possibly damaging	Het
Gdf9	T	A	11: 53,327,581 (GRCm39)	V179E	probably benign	Het
Gm14129	G	T	2: 148,769,737 (GRCm39)		noncoding transcript	Het
Gpr152	G	A	19: 4,193,128 (GRCm39)	C223Y	probably damaging	Het
Heatr5b	A	T	17: 79,129,008 (GRCm39)		probably null	Het
Hsd17b3	G	T	13: 64,221,713 (GRCm39)	T104N	probably damaging	Het
Il6ra	C	T	3: 89,793,302 (GRCm39)	V283M	probably benign	Het
Klk1b16	A	T	7: 43,786,755 (GRCm39)	I5F	probably damaging	Het
Krt74	G	A	15: 101,662,900 (GRCm39)		noncoding transcript	Het
Lrch3	T	A	16: 32,818,960 (GRCm39)	N650K	probably damaging	Het
Ly96	A	T	1: 16,779,710 (GRCm39)	E126D	probably benign	Het
Mgarp	C	A	3: 51,298,706 (GRCm39)	R66L	possibly damaging	Het
Naalad2	T	A	9: 18,242,147 (GRCm39)	T586S	probably damaging	Het
Ndufaf3	T	C	9: 108,443,643 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,139,450 (GRCm39)	M3055T	possibly damaging	Het
Neo1	G	T	9: 58,838,350 (GRCm39)	A478D	probably damaging	Het
Nmrk1	A	T	19: 18,617,248 (GRCm39)		probably null	Het
Nsl1	T	C	1: 190,812,737 (GRCm39)	M184T	probably benign	Het
Nup133	T	C	8: 124,657,705 (GRCm39)	N410S	probably benign	Het
Opalin	A	G	19: 41,054,970 (GRCm39)	S75P	probably benign	Het
Or1e17	T	C	11: 73,831,696 (GRCm39)	I208T	probably benign	Het
Or3a4	A	G	11: 73,944,733 (GRCm39)	I284T	possibly damaging	Het
Or51ag1	T	G	7: 103,155,716 (GRCm39)	I146L	probably benign	Het
Palb2	C	A	7: 121,713,574 (GRCm39)	C903F	probably damaging	Het
Pcm1	T	A	8: 41,740,720 (GRCm39)	W989R	probably damaging	Het
Pfkfb4	T	A	9: 108,856,661 (GRCm39)	I389N	probably damaging	Het
Pitrm1	T	C	13: 6,603,306 (GRCm39)	C119R	probably benign	Het
Plekha1	T	C	7: 130,510,106 (GRCm39)	V45A	probably damaging	Het
Pold2	G	A	11: 5,823,048 (GRCm39)	P376S	probably damaging	Het
Rcan2	A	G	17: 44,147,174 (GRCm39)	D4G	probably benign	Het
Slc12a1	A	T	2: 125,012,634 (GRCm39)	T299S	probably damaging	Het
Slc22a29	A	T	19: 8,138,880 (GRCm39)	H527Q	probably benign	Het
Slc22a8	G	A	19: 8,585,234 (GRCm39)	R261H	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco4a1	T	C	2: 180,115,907 (GRCm39)	F681S	probably benign	Het
Sorcs2	A	T	5: 36,188,527 (GRCm39)	H860Q	probably benign	Het
Strn	A	T	17: 78,964,374 (GRCm39)	H530Q	probably benign	Het
Tex14	A	G	11: 87,442,430 (GRCm39)	R179G	probably damaging	Het
Tjp3	T	C	10: 81,115,381 (GRCm39)	D350G	probably benign	Het
Tnrc6b	G	T	15: 80,800,912 (GRCm39)	R1406L	possibly damaging	Het
Tnxb	A	G	17: 34,935,947 (GRCm39)	D2666G	probably null	Het
Ttn	A	T	2: 76,560,208 (GRCm39)	Y27652N	probably benign	Het
Utp20	T	A	10: 88,653,758 (GRCm39)	E287D	probably benign	Het
Vmn1r45	T	C	6: 89,910,698 (GRCm39)	I91V	probably benign	Het
Wdr72	A	T	9: 74,046,981 (GRCm39)	K76*	probably null	Het
Zfp689	C	T	7: 127,043,425 (GRCm39)	A402T	probably damaging	Het
Zfpm1	A	G	8: 123,060,532 (GRCm39)	E207G	probably damaging	Het
Zhx2	G	T	15: 57,686,470 (GRCm39)	R613L	possibly 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
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'- CTGGCATTCTCATGAGACTTTC -3'
(R):5'- GCACAGGGCATTATTTTGTCTC -3'

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

Posted On

2016-10-06