Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Golgb1'

560660

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

Accession Numbers

Genbank: NM_030035.1

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R7206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36875140-36933085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36913749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1160 (I1160M)

Ref Sequence

ENSEMBL: ENSMUSP00000045239 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039855
AA Change: I1160M

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: I1160M

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

probably benign
Transcript: ENSMUST00000114812
AA Change: I1119M

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: I1119M

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

Meta Mutation Damage Score

0.0815

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 60,025,241	M392I	probably benign	Het
Acr	T	C	15: 89,574,171	S352P	probably benign	Het
Adam6a	T	C	12: 113,546,034	C676R	probably damaging	Het
Adgra3	T	C	5: 50,006,896	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,456	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,447,972	T805A	probably benign	Het
Atp8b4	T	C	2: 126,458,292	S106G	probably damaging	Het
Ccdc170	T	A	10: 4,514,120	M87K	possibly damaging	Het
Ccnl2	T	G	4: 155,820,974	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,256,949	M329L	probably benign	Het
Cflar	G	T	1: 58,740,991	M248I		Het
Cib4	A	T	5: 30,545,766	L5*	probably null	Het
Col27a1	A	T	4: 63,235,346	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,159,054	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dnah7a	A	T	1: 53,698,633	L47*	probably null	Het
Dnajb6	A	C	5: 29,781,337	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,904,543	I157F	possibly damaging	Het
Drd4	G	A	7: 141,292,119	G28R	probably damaging	Het
Dupd1	A	G	14: 21,677,034	V182A	probably damaging	Het
Dus3l	A	T	17: 56,767,807	I310F	probably damaging	Het
Eef1akmt3	A	G	10: 127,040,993	L95P	probably damaging	Het
Fabp7	C	T	10: 57,784,991		probably benign	Het
Fam135a	T	C	1: 24,030,273	N505S	probably benign	Het
Fam213a	T	A	14: 41,004,185	M12L	probably benign	Het
Fam216b	C	A	14: 78,085,127	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,667,033		probably null	Het
Gm13124	T	A	4: 144,558,641	D142V	probably damaging	Het
Hfe2	A	T	3: 96,528,128	D234V	probably damaging	Het
Kiss1	A	G	1: 133,327,325	K26E	probably benign	Het
Knl1	T	A	2: 119,069,299	F494I	probably benign	Het
Ktn1	T	C	14: 47,695,528	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,441,817	D2052G	probably damaging	Het
Lpo	A	C	11: 87,807,423	L582R	probably damaging	Het
Map2k3	A	G	11: 60,943,580	T125A		Het
Matn3	T	A	12: 8,961,170	N360K	probably benign	Het
Mlip	A	T	9: 77,164,862	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146	V999A	probably benign	Het
Mn1	A	G	5: 111,420,512	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,319,775	K132*	probably null	Het
Nle1	A	G	11: 82,904,931	V230A	probably benign	Het
Olfr1240	T	C	2: 89,440,457		probably benign	Het
Olfr1318	T	G	2: 112,156,459	C169W	probably damaging	Het
Olfr22-ps1	A	T	11: 73,954,821	I44F	probably benign	Het
Olfr356	T	A	2: 36,937,772	Y218N	probably damaging	Het
Olfr564	T	C	7: 102,803,684	S69P	probably damaging	Het
Olfr860	C	T	9: 19,846,560	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,820,415	H7L	possibly damaging	Het
Pam	A	G	1: 97,896,032	S225P	probably damaging	Het
Pan2	C	A	10: 128,314,545	Y719*	probably null	Het
Ppfia4	T	C	1: 134,327,389	S243G	probably benign	Het
Ppig	T	G	2: 69,741,566	S210A	unknown	Het
Ppwd1	A	T	13: 104,213,598	N426K	probably damaging	Het
Rnf10	T	G	5: 115,244,121	D675A	probably benign	Het
Rrp12	A	T	19: 41,878,039	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,961,192	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,133,894	M1K	probably null	Het
Scp2	G	T	4: 108,074,441	D332E	probably benign	Het
Senp3	T	C	11: 69,678,731	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,811,373		probably null	Het
Slc44a2	T	C	9: 21,346,807	F451S	probably damaging	Het
Slfn1	A	T	11: 83,122,011	M318L	probably benign	Het
Syne2	C	T	12: 76,004,757	S4087L	probably benign	Het
Syt7	A	G	19: 10,417,973	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,628,108	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941	H315L	probably damaging	Het
Tmem184c	A	G	8: 77,596,577	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,704,101	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,710,936	R173S	probably benign	Het
Tonsl	T	C	15: 76,633,651	D650G	probably damaging	Het
Tpo	G	C	12: 30,103,134	S407W	possibly damaging	Het
Trank1	T	C	9: 111,345,515		probably null	Het
Trp53tg5	T	C	2: 164,471,458	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,075,522	S95I	possibly damaging	Het
Vav2	C	A	2: 27,336,719	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,660,157	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,768	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,872,867	N88S	probably benign	Het
Vps13a	T	C	19: 16,754,298	N150S	probably damaging	Het
Vps35	A	T	8: 85,287,721	Y100N	probably damaging	Het
Vps8	A	C	16: 21,457,421	I235L	probably damaging	Het
Yipf2	T	A	9: 21,590,361	H157L	probably damaging	Het
Zfp354a	A	T	11: 51,070,246	H426L	probably damaging	Het
Zfp503	G	T	14: 21,985,485	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,535,400	R285C	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
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
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'- AAGAGTTACAGGCTGTGGTCC -3'
(R):5'- TGCTCATGGAACTGTCCCTG -3'

Sequencing Primer
(F):5'- CTCGGGACCTGCAGAGTAAGAC -3'
(R):5'- AACTGTCCCTGTAGGTGATGGTAC -3'

Posted On

2019-06-26