Mutagenetix > Incidental Mutation

Incidental Mutation 'R2513:Golgb1'

253702

Institutional Source

Beutler Lab

Gene Symbol

Golgb1

Ensembl Gene

ENSMUSG00000034243

Gene Name

golgi autoantigen, golgin subfamily b, macrogolgin 1

Synonyms

Giantin, C130074L01Rik, F730017E11Rik, Gm6840, 6330407A06Rik

MMRRC Submission

040419-MU

Accession Numbers

Genbank: NM_030035.1

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R2513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36875140-36933085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36915151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1587 (V1587L)

Ref Sequence

ENSEMBL: ENSMUSP00000110460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039855] [ENSMUST00000114812]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039855
AA Change: V1628L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: V1628L

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	7.47e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
coiled coil region	130	219	N/A	INTRINSIC
low complexity region	491	512	N/A	INTRINSIC
internal_repeat_3	519	558	7.47e-6	PROSPERO
coiled coil region	563	594	N/A	INTRINSIC
internal_repeat_4	627	661	3.38e-5	PROSPERO
coiled coil region	679	1121	N/A	INTRINSIC
coiled coil region	1153	1240	N/A	INTRINSIC
internal_repeat_4	1253	1288	3.38e-5	PROSPERO
low complexity region	1300	1314	N/A	INTRINSIC
internal_repeat_1	1321	1352	3.51e-6	PROSPERO
low complexity region	1357	1369	N/A	INTRINSIC
coiled coil region	1402	1755	N/A	INTRINSIC
internal_repeat_2	1760	1798	7.47e-6	PROSPERO
internal_repeat_3	1761	1804	7.47e-6	PROSPERO
coiled coil region	1818	2034	N/A	INTRINSIC
low complexity region	2291	2306	N/A	INTRINSIC
internal_repeat_1	2351	2382	3.51e-6	PROSPERO
low complexity region	2400	2418	N/A	INTRINSIC
low complexity region	2538	2549	N/A	INTRINSIC
coiled coil region	2775	2827	N/A	INTRINSIC
coiled coil region	2854	2943	N/A	INTRINSIC
low complexity region	2964	2976	N/A	INTRINSIC
coiled coil region	3007	3057	N/A	INTRINSIC
coiled coil region	3117	3163	N/A	INTRINSIC
transmembrane domain	3215	3237	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114812
AA Change: V1587L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: V1587L

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	6.71e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
low complexity region	143	154	N/A	INTRINSIC
low complexity region	200	219	N/A	INTRINSIC
low complexity region	450	471	N/A	INTRINSIC
internal_repeat_3	478	517	6.71e-6	PROSPERO
coiled coil region	522	553	N/A	INTRINSIC
internal_repeat_4	586	620	3.05e-5	PROSPERO
coiled coil region	638	1080	N/A	INTRINSIC
coiled coil region	1112	1199	N/A	INTRINSIC
internal_repeat_4	1212	1247	3.05e-5	PROSPERO
low complexity region	1259	1273	N/A	INTRINSIC
internal_repeat_1	1280	1311	3.14e-6	PROSPERO
low complexity region	1316	1328	N/A	INTRINSIC
coiled coil region	1361	1714	N/A	INTRINSIC
internal_repeat_2	1719	1757	6.71e-6	PROSPERO
internal_repeat_3	1720	1763	6.71e-6	PROSPERO
coiled coil region	1777	1993	N/A	INTRINSIC
low complexity region	2250	2265	N/A	INTRINSIC
internal_repeat_1	2310	2341	3.14e-6	PROSPERO
low complexity region	2359	2377	N/A	INTRINSIC
low complexity region	2497	2508	N/A	INTRINSIC
coiled coil region	2734	2786	N/A	INTRINSIC
coiled coil region	2813	2902	N/A	INTRINSIC
low complexity region	2923	2935	N/A	INTRINSIC
coiled coil region	2966	3016	N/A	INTRINSIC
coiled coil region	3076	3122	N/A	INTRINSIC
transmembrane domain	3174	3196	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout affects glycosylation of glycoproteins in the extra-cellular matrix of the palatal shelves, resulting in their failure to elevate and fuse, leading to cleft palate. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, other(2) Gene trapped(5)

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,661,852	T719A	possibly damaging	Het
9530053A07Rik	C	G	7: 28,131,635	S91C	probably damaging	Het
Abcc1	A	G	16: 14,473,009		probably null	Het
Aftph	C	T	11: 20,708,676		probably null	Het
Als2	C	A	1: 59,215,117	K360N	probably benign	Het
Atg2a	T	A	19: 6,258,046		probably null	Het
Axl	T	C	7: 25,787,516	D22G	probably benign	Het
Baiap2	G	A	11: 119,999,226	A438T	probably benign	Het
Bean1	G	C	8: 104,182,011	A7P	probably benign	Het
Birc6	C	G	17: 74,647,729	P3431R	probably damaging	Het
Camk1d	A	G	2: 5,714,236	M1T	probably null	Het
Carmil3	T	C	14: 55,503,838	Y1027H	probably damaging	Het
Ccdc6	G	A	10: 70,187,828		probably benign	Het
Cemip	C	A	7: 83,942,025	V1280L	probably benign	Het
Cfap58	C	A	19: 47,962,542	N447K	probably benign	Het
Chd3	A	G	11: 69,360,645	L520P	probably damaging	Het
Col1a2	T	A	6: 4,531,223		probably null	Het
Cpne7	A	C	8: 123,117,667		probably null	Het
Ctla4	T	C	1: 60,912,564	V84A	probably damaging	Het
Dap3	A	G	3: 88,928,258	V263A	probably benign	Het
Dhx57	T	A	17: 80,241,949		probably null	Het
Dlg5	C	A	14: 24,164,525	K663N	probably damaging	Het
Dsg3	C	A	18: 20,523,662	F196L	possibly damaging	Het
Eif2ak4	C	A	2: 118,426,583	D402E	probably damaging	Het
Fam208b	G	T	13: 3,582,150	L784I	possibly damaging	Het
Fance	T	C	17: 28,318,094	V24A	probably benign	Het
Fasn	A	T	11: 120,814,748	L1149Q	probably damaging	Het
Flg	T	A	3: 93,279,786	S182T	possibly damaging	Het
Gm128	T	A	3: 95,239,982	S334C	possibly damaging	Het
Gm3727	A	C	14: 7,264,561	H31Q	probably damaging	Het
Gm4841	T	G	18: 60,270,905	T39P	probably damaging	Het
Golm1	G	A	13: 59,642,258	P243S	probably benign	Het
Gstcd	C	A	3: 133,082,320	A206S	possibly damaging	Het
Gstcd	C	A	3: 133,082,321	K205N	possibly damaging	Het
Gtf3c1	A	G	7: 125,681,173	V355A	probably benign	Het
Hhatl	T	C	9: 121,789,170	D173G	probably benign	Het
Kcnu1	T	A	8: 25,905,966	C660S	probably benign	Het
Kctd8	T	C	5: 69,110,645	D374G	probably benign	Het
Kif21a	T	C	15: 90,994,391	I229V	possibly damaging	Het
L3mbtl1	A	T	2: 162,967,585	I702F	probably benign	Het
Lce1d	T	C	3: 92,685,759		probably benign	Het
Lrig1	C	T	6: 94,617,366		probably null	Het
Lrp12	A	T	15: 39,876,111	D563E	probably damaging	Het
Lrp2	C	T	2: 69,506,374		probably null	Het
Map3k5	G	A	10: 20,094,455	V703I	possibly damaging	Het
Mecr	A	G	4: 131,853,765	R110G	probably benign	Het
Mtrr	T	A	13: 68,566,973	K445*	probably null	Het
Nanos1	T	A	19: 60,756,552	L96Q	probably benign	Het
Olfr538	T	G	7: 140,574,156	M1R	probably null	Het
Olfr574	T	A	7: 102,949,493	F333I	probably benign	Het
Olfr807	T	A	10: 129,755,152	L99F	probably damaging	Het
Otog	T	C	7: 46,305,590		probably null	Het
Pcdhb3	G	T	18: 37,301,241	V87F	probably benign	Het
Pcdhb3	T	A	18: 37,301,239	L86*	probably null	Het
Pcdhb3	A	T	18: 37,301,240	L86F	probably damaging	Het
Pdgfd	A	G	9: 6,359,894	K322E	probably damaging	Het
Picalm	T	C	7: 90,197,009	S648P	probably damaging	Het
Pigr	T	C	1: 130,846,620	S446P	possibly damaging	Het
Pik3cb	A	C	9: 99,061,842	L636W	probably damaging	Het
Pla2g2f	A	T	4: 138,754,162	L92Q	probably damaging	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prkar2b	C	T	12: 31,975,929	V191I	possibly damaging	Het
Prune1	C	A	3: 95,258,119	A281S	probably benign	Het
Ptges3l	A	T	11: 101,424,042	C42S	possibly damaging	Het
Reg3b	A	T	6: 78,371,819	I33L	probably benign	Het
Rel	A	G	11: 23,745,823	I188T	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripor1	G	T	8: 105,617,622	V463L	probably benign	Het
Rrm1	T	A	7: 102,460,689	D510E	probably damaging	Het
Setd7	A	G	3: 51,533,015	S202P	probably damaging	Het
Shank3	T	A	15: 89,548,686	D1211E	probably benign	Het
Slc30a1	A	T	1: 191,907,562	T186S	possibly damaging	Het
Slc4a4	G	A	5: 89,156,398	V523I	probably benign	Het
Slc9a2	T	A	1: 40,742,608		probably null	Het
Smg6	A	G	11: 74,929,676	T258A	probably damaging	Het
Sptlc1	C	T	13: 53,337,640	D408N	possibly damaging	Het
Tbl3	T	C	17: 24,704,550		probably null	Het
Tdo2	T	C	3: 81,969,505	D139G	possibly damaging	Het
Ticam1	T	A	17: 56,271,612	H161L	possibly damaging	Het
Tnfaip3	T	A	10: 19,005,659	D293V	probably benign	Het
Trim72	G	A	7: 128,004,706	V75M	possibly damaging	Het
Trip11	T	A	12: 101,837,727	N1632I	possibly damaging	Het
Tspan18	A	T	2: 93,220,095	M61K	possibly damaging	Het
Tuba8	A	T	6: 121,225,973	E415V	probably damaging	Het
Ung	A	G	5: 114,137,192	H214R	probably benign	Het
Uqcrc1	T	C	9: 108,936,768	L17P	probably damaging	Het
Usp24	A	G	4: 106,379,405		probably null	Het
Vps39	A	C	2: 120,338,787	Y245D	probably damaging	Het
Whrn	T	A	4: 63,435,412	T373S	probably benign	Het
Zc2hc1a	C	T	3: 7,516,536		probably null	Het

Other mutations in Golgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Golgb1	APN	16	36931564	missense	probably damaging	1.00
IGL01717:Golgb1	APN	16	36915502	nonsense	probably null
IGL01965:Golgb1	APN	16	36917920	missense	probably damaging	1.00
IGL02128:Golgb1	APN	16	36916304	missense	probably damaging	1.00
IGL02268:Golgb1	APN	16	36913128	missense	probably benign	0.25
IGL02383:Golgb1	APN	16	36886200	missense	probably benign	0.01
IGL02444:Golgb1	APN	16	36907816	splice site	probably benign
IGL02635:Golgb1	APN	16	36915013	missense	probably benign	0.00
IGL02655:Golgb1	APN	16	36918080	missense	probably damaging	0.98
IGL02887:Golgb1	APN	16	36925849	missense	probably damaging	0.99
IGL02937:Golgb1	APN	16	36916210	missense	probably damaging	1.00
IGL02973:Golgb1	APN	16	36912080	missense	possibly damaging	0.92
IGL02982:Golgb1	APN	16	36925810	missense	probably damaging	0.98
IGL03065:Golgb1	APN	16	36912866	missense	probably benign	0.11
IGL03109:Golgb1	APN	16	36915611	missense	possibly damaging	0.93
IGL03323:Golgb1	APN	16	36913453	nonsense	probably null
I2288:Golgb1	UTSW	16	36898542	missense	probably benign	0.00
I2289:Golgb1	UTSW	16	36898542	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36915503	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36915503	missense	probably benign	0.00
R0080:Golgb1	UTSW	16	36898611	missense	probably damaging	1.00
R0102:Golgb1	UTSW	16	36875468	intron	probably benign
R0242:Golgb1	UTSW	16	36875630	nonsense	probably null
R0242:Golgb1	UTSW	16	36875630	nonsense	probably null
R0276:Golgb1	UTSW	16	36913876	missense	probably damaging	1.00
R0394:Golgb1	UTSW	16	36875579	intron	probably benign
R0469:Golgb1	UTSW	16	36931635	missense	probably benign	0.41
R0522:Golgb1	UTSW	16	36915205	frame shift	probably null
R0575:Golgb1	UTSW	16	36918809	missense	probably benign
R0600:Golgb1	UTSW	16	36916271	missense	probably damaging	1.00
R0608:Golgb1	UTSW	16	36916330	nonsense	probably null
R0711:Golgb1	UTSW	16	36918790	missense	probably damaging	1.00
R0785:Golgb1	UTSW	16	36898790	missense	possibly damaging	0.95
R0893:Golgb1	UTSW	16	36912277	missense	possibly damaging	0.64
R1163:Golgb1	UTSW	16	36916126	missense	possibly damaging	0.50
R1208:Golgb1	UTSW	16	36915205	frame shift	probably null
R1315:Golgb1	UTSW	16	36914900	missense	probably benign	0.40
R1429:Golgb1	UTSW	16	36900563	missense	possibly damaging	0.93
R1505:Golgb1	UTSW	16	36919643	missense	possibly damaging	0.79
R1537:Golgb1	UTSW	16	36898788	missense	possibly damaging	0.89
R1610:Golgb1	UTSW	16	36926101	missense	probably benign	0.25
R1659:Golgb1	UTSW	16	36887617	missense	probably benign	0.01
R1769:Golgb1	UTSW	16	36916001	missense	probably damaging	1.00
R2105:Golgb1	UTSW	16	36914664	missense	probably benign
R2212:Golgb1	UTSW	16	36887347	missense	probably damaging	1.00
R2261:Golgb1	UTSW	16	36893360	missense	probably damaging	1.00
R2352:Golgb1	UTSW	16	36898559	missense	probably damaging	0.99
R2357:Golgb1	UTSW	16	36912008	missense	probably damaging	1.00
R2400:Golgb1	UTSW	16	36918466	missense	possibly damaging	0.62
R3103:Golgb1	UTSW	16	36894849	missense	probably damaging	1.00
R3413:Golgb1	UTSW	16	36887347	missense	probably damaging	1.00
R3748:Golgb1	UTSW	16	36918912	missense	probably benign	0.00
R3847:Golgb1	UTSW	16	36898733	missense	probably benign	0.00
R3850:Golgb1	UTSW	16	36898733	missense	probably benign	0.00
R3936:Golgb1	UTSW	16	36914056	nonsense	probably null
R3975:Golgb1	UTSW	16	36918571	missense	probably damaging	0.99
R4025:Golgb1	UTSW	16	36915344	missense	probably benign	0.00
R4369:Golgb1	UTSW	16	36916907	missense	probably damaging	1.00
R4518:Golgb1	UTSW	16	36929263	missense	probably damaging	0.98
R4600:Golgb1	UTSW	16	36918625	missense	probably damaging	1.00
R4610:Golgb1	UTSW	16	36918625	missense	probably damaging	1.00
R4660:Golgb1	UTSW	16	36887618	missense	probably damaging	0.99
R4811:Golgb1	UTSW	16	36891419	missense	probably damaging	1.00
R4815:Golgb1	UTSW	16	36913115	missense	possibly damaging	0.79
R4835:Golgb1	UTSW	16	36891407	missense	possibly damaging	0.86
R4904:Golgb1	UTSW	16	36893386	missense	probably damaging	1.00
R4916:Golgb1	UTSW	16	36916118	missense	probably benign	0.05
R5121:Golgb1	UTSW	16	36919258	missense	probably damaging	0.99
R5133:Golgb1	UTSW	16	36891457	missense	possibly damaging	0.75
R5143:Golgb1	UTSW	16	36898689	missense	probably benign	0.09
R5185:Golgb1	UTSW	16	36875141	unclassified	probably benign
R5188:Golgb1	UTSW	16	36918465	missense	probably benign	0.13
R5260:Golgb1	UTSW	16	36913141	missense	probably benign	0.00
R5297:Golgb1	UTSW	16	36875616	intron	probably benign
R5386:Golgb1	UTSW	16	36912315	nonsense	probably null
R5438:Golgb1	UTSW	16	36900508	missense	probably benign	0.15
R5439:Golgb1	UTSW	16	36900508	missense	probably benign	0.15
R5494:Golgb1	UTSW	16	36928683	missense	possibly damaging	0.67
R5592:Golgb1	UTSW	16	36925763	missense	probably benign	0.02
R5740:Golgb1	UTSW	16	36919000	missense	probably damaging	0.99
R5862:Golgb1	UTSW	16	36926091	splice site	silent
R5928:Golgb1	UTSW	16	36911987	missense	probably damaging	1.00
R6009:Golgb1	UTSW	16	36914959	missense	probably damaging	1.00
R6062:Golgb1	UTSW	16	36914671	missense	possibly damaging	0.89
R6102:Golgb1	UTSW	16	36912865	missense	probably damaging	1.00
R6198:Golgb1	UTSW	16	36893395	missense	probably damaging	1.00
R6253:Golgb1	UTSW	16	36915622	missense	possibly damaging	0.77
R6254:Golgb1	UTSW	16	36913978	missense	probably damaging	0.99
R6321:Golgb1	UTSW	16	36918197	nonsense	probably null
R6700:Golgb1	UTSW	16	36875584	intron	probably benign
R6870:Golgb1	UTSW	16	36918203	missense	probably damaging	1.00
R6882:Golgb1	UTSW	16	36913990	missense	probably benign
R6944:Golgb1	UTSW	16	36912113	missense	probably benign
R7108:Golgb1	UTSW	16	36913721	missense	probably benign	0.01
R7124:Golgb1	UTSW	16	36913673	missense	probably benign	0.01
R7125:Golgb1	UTSW	16	36917963	missense	possibly damaging	0.85
R7187:Golgb1	UTSW	16	36916150	missense	probably benign	0.43
R7205:Golgb1	UTSW	16	36875301	missense	unknown
R7206:Golgb1	UTSW	16	36913749	missense	probably benign	0.41
R7233:Golgb1	UTSW	16	36914758	missense	possibly damaging	0.91
R7320:Golgb1	UTSW	16	36915951	nonsense	probably null
R7367:Golgb1	UTSW	16	36898546	missense	probably benign	0.00
R7408:Golgb1	UTSW	16	36898547	missense	probably damaging	0.98
R7419:Golgb1	UTSW	16	36912919	missense	possibly damaging	0.95
R7556:Golgb1	UTSW	16	36915793	missense	probably benign	0.03
R7599:Golgb1	UTSW	16	36875396	missense	unknown
R7673:Golgb1	UTSW	16	36913669	missense	probably benign	0.05
R7789:Golgb1	UTSW	16	36875399	missense	unknown
R7792:Golgb1	UTSW	16	36918730	missense	probably benign	0.43
R7830:Golgb1	UTSW	16	36898721	missense	possibly damaging	0.93
R7847:Golgb1	UTSW	16	36931920	missense	probably damaging	1.00
R7905:Golgb1	UTSW	16	36913685	missense	probably benign
R7944:Golgb1	UTSW	16	36914104	missense	probably benign	0.02
R7945:Golgb1	UTSW	16	36914104	missense	probably benign	0.02
R7950:Golgb1	UTSW	16	36915424	missense	probably benign	0.13
R8040:Golgb1	UTSW	16	36913479	missense	possibly damaging	0.85
R8077:Golgb1	UTSW	16	36918633	missense	probably damaging	0.99
R8181:Golgb1	UTSW	16	36916830	missense	probably damaging	1.00
R8370:Golgb1	UTSW	16	36912317	missense	probably benign	0.00
R8684:Golgb1	UTSW	16	36914402	missense	possibly damaging	0.92
R8725:Golgb1	UTSW	16	36919201	missense	probably damaging	1.00
R8727:Golgb1	UTSW	16	36919201	missense	probably damaging	1.00
R8738:Golgb1	UTSW	16	36916313	missense	probably damaging	1.00
R8785:Golgb1	UTSW	16	36919744	missense	probably damaging	0.99
R8824:Golgb1	UTSW	16	36915689	missense	probably benign
R8825:Golgb1	UTSW	16	36919447	missense	probably benign	0.00
R8940:Golgb1	UTSW	16	36916397	missense	probably damaging	1.00
R8962:Golgb1	UTSW	16	36913616	missense	probably damaging	1.00
R9245:Golgb1	UTSW	16	36918819	nonsense	probably null
R9365:Golgb1	UTSW	16	36915762	missense	probably damaging	1.00
R9612:Golgb1	UTSW	16	36919605	missense	probably benign	0.41
R9620:Golgb1	UTSW	16	36919449	missense	probably benign
R9691:Golgb1	UTSW	16	36898634	missense	probably damaging	1.00
R9747:Golgb1	UTSW	16	36893407	missense	probably damaging	1.00
V1662:Golgb1	UTSW	16	36898542	missense	probably benign	0.00
X0067:Golgb1	UTSW	16	36914303	nonsense	probably null
Z1088:Golgb1	UTSW	16	36919742	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTGAAACTAGCTCTGGG -3'
(R):5'- GAAGTGCTTCCATGCTCTCACC -3'

Sequencing Primer
(F):5'- GCCTCACGGAAGACAAGG -3'
(R):5'- ACCGGTTCCTCCTACAGG -3'

Posted On

2014-12-04