Mutagenetix > Incidental Mutation

Incidental Mutation 'R5185:Golgb1'

397840

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

042764-MU

Accession Numbers

Genbank: NM_030035.1

Is this an essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R5185 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

36875140-36933085 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 36875141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023534] [ENSMUST00000023535] [ENSMUST00000075946] [ENSMUST00000114812] [ENSMUST00000114819] [ENSMUST00000134616] [ENSMUST00000135406]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023534
AA Change: S1P

SMART Domains

Protein: ENSMUSP00000023534
Gene: ENSMUSG00000034243
AA Change: S1P

Domain	Start	End	E-Value	Type
low complexity region	55	99	N/A	INTRINSIC
low complexity region	109	126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023535

SMART Domains

Protein: ENSMUSP00000023535
Gene: ENSMUSG00000022837

Domain	Start	End	E-Value	Type
IQ	293	315	5.92e-4	SMART
low complexity region	341	358	N/A	INTRINSIC
IQ	386	408	2.66e-6	SMART
low complexity region	428	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075946

SMART Domains

Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838

Domain	Start	End	E-Value	Type
low complexity region	44	71	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114812

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114819

SMART Domains

Protein: ENSMUSP00000110467
Gene: ENSMUSG00000022837

Domain	Start	End	E-Value	Type
IQ	293	315	5.92e-4	SMART
low complexity region	341	358	N/A	INTRINSIC
IQ	386	408	2.66e-6	SMART
low complexity region	428	442	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134556

Predicted Effect

probably benign
Transcript: ENSMUST00000134616

SMART Domains

Protein: ENSMUSP00000116503
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
coiled coil region	42	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135406

SMART Domains

Protein: ENSMUSP00000115848
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
coiled coil region	42	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157072

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

95% (70/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,562,911	Y408C	probably damaging	Het
Aox4	T	C	1: 58,254,318	L943S	probably damaging	Het
Ap1g1	G	A	8: 109,863,326		probably benign	Het
Arsb	T	C	13: 93,794,159	S212P	probably damaging	Het
Arsi	A	G	18: 60,916,912	N289S	probably damaging	Het
Atp6v1h	T	A	1: 5,095,642	F72I	probably damaging	Het
Atxn7	T	C	14: 14,090,063	I336T	probably benign	Het
Bak1	G	A	17: 27,022,748	P65L	possibly damaging	Het
Bcl6	A	T	16: 23,972,947	M219K	possibly damaging	Het
Brd3	T	C	2: 27,462,448	K157E	probably damaging	Het
Ccdc171	T	G	4: 83,663,655	S674A	possibly damaging	Het
Cfap43	A	G	19: 47,780,394	I737T	probably benign	Het
Cul9	A	T	17: 46,525,832	V1089D	possibly damaging	Het
Dffa	C	A	4: 149,117,430	A155E	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Efcab12	T	A	6: 115,823,490	M191L	probably benign	Het
Efl1	T	C	7: 82,772,499	L1018P	probably damaging	Het
Fcho1	A	G	8: 71,714,956		probably benign	Het
Fndc3b	T	A	3: 27,457,070	T764S	probably benign	Het
Gm29125	T	C	1: 80,384,231		noncoding transcript	Het
Gm5108	A	G	5: 67,944,610		probably benign	Het
Gm9949	T	G	18: 62,180,565		probably benign	Het
Gpd2	T	C	2: 57,340,204	Y323H	probably damaging	Het
Grip1	T	G	10: 119,931,259	D96E	probably benign	Het
Hmcn1	T	C	1: 150,656,741	I3132V	probably benign	Het
Hsd17b1	T	C	11: 101,080,198	W327R	possibly damaging	Het
Htra2	G	A	6: 83,054,242	P62L	probably benign	Het
Kdr	A	T	5: 75,952,417		probably null	Het
Kif14	T	A	1: 136,527,469	C1626*	probably null	Het
Kmt2a	A	T	9: 44,820,246		probably benign	Het
Krt15	T	C	11: 100,133,433	T321A	probably damaging	Het
Lactbl1	A	T	4: 136,631,045	H109L	probably benign	Het
Lilra6	T	A	7: 3,914,636	H120L	probably benign	Het
Lpcat2	G	A	8: 92,869,737	S134N	probably benign	Het
Mpp4	T	C	1: 59,125,583	D465G	probably benign	Het
Naip2	A	T	13: 100,189,351	D16E	probably damaging	Het
Nek5	C	T	8: 22,083,381	A520T	possibly damaging	Het
Nfatc2	A	G	2: 168,570,707	F132L	possibly damaging	Het
Nlrp3	C	A	11: 59,565,084	T902N	probably benign	Het
Olfr1097	T	C	2: 86,890,602	D191G	probably benign	Het
Olfr1230	A	T	2: 89,296,387	H294Q	probably benign	Het
Olfr149	A	T	9: 39,701,876	W298R	probably benign	Het
Olfr58	T	C	9: 19,783,376	M81T	probably damaging	Het
Pcdhb16	T	C	18: 37,480,089	S701P	possibly damaging	Het
Phf7	A	G	14: 31,248,037		probably null	Het
Plpp4	G	A	7: 129,316,304	V68M	probably damaging	Het
Pnma2	A	T	14: 66,916,129	M1L	possibly damaging	Het
Pnmal2	A	T	7: 16,945,976	D295V	probably damaging	Het
Rad21l	T	C	2: 151,657,462	D270G	probably benign	Het
Ralgapa2	C	A	2: 146,388,486		probably null	Het
Rasal3	A	T	17: 32,396,790	L334Q	probably damaging	Het
Rfx4	G	T	10: 84,863,250	R240L	probably damaging	Het
Rnf19b	T	A	4: 129,083,920	C642*	probably null	Het
Slc28a2	G	A	2: 122,458,194	E594K	probably benign	Het
Spata31	G	T	13: 64,917,526	W15L	possibly damaging	Het
Spink5	T	C	18: 44,015,644	S925P	probably damaging	Het
Svep1	C	T	4: 58,084,534	G1865S	probably damaging	Het
Tg	T	C	15: 66,773,474	L791P	probably damaging	Het
Thbs4	A	C	13: 92,775,167	V247G	probably damaging	Het
Tpcn2	A	T	7: 145,255,454	F705Y	probably damaging	Het
Try10	A	T	6: 41,356,549	H76L	probably damaging	Het
Ttn	C	T	2: 76,939,221	V2695I	probably damaging	Het
Tut1	C	A	19: 8,955,450	T49N	probably benign	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Xdh	G	A	17: 73,925,011	R235C	probably damaging	Het
Yipf4	A	G	17: 74,492,475	D70G	probably null	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	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
R2513:Golgb1	UTSW	16	36915151	missense	possibly damaging	0.73
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
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'- GGCACGTCCTTCTTAGAATCC -3'
(R):5'- CACTAAGTTTGTTCAGGGCTG -3'

Sequencing Primer
(F):5'- TAGAATCCATTGGCTCCGTCTTTGAG -3'
(R):5'- GCAGACTGACTGGGTGTC -3'

Posted On

2016-07-06