Mutagenetix > Incidental Mutation

Incidental Mutation 'R2261:Golgb1'

243825

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

040261-MU

Accession Numbers

Genbank: NM_030035.1

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R2261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36875140-36933085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36893360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 234 (F234L)

Ref Sequence

ENSEMBL: ENSMUSP00000045239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039855] [ENSMUST00000114812] [ENSMUST00000134616]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039855
AA Change: F234L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: F234L

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

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: 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: ENSMUST00000153572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231790

Meta Mutation Damage Score

0.0716

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,288	M1384L	probably benign	Het
Ahdc1	A	G	4: 133,063,163	T572A	unknown	Het
Arhgap31	T	A	16: 38,609,277	Q412L	probably damaging	Het
Arsi	T	C	18: 60,916,665	Y207H	probably damaging	Het
Bco1	T	C	8: 117,133,025	L489S	probably damaging	Het
Cacna1g	T	A	11: 94,457,135	H709L	probably benign	Het
Cacna1h	T	C	17: 25,433,165	T2A	possibly damaging	Het
Casz1	G	T	4: 148,929,099	R40L	probably damaging	Het
Cdh23	A	G	10: 60,317,128	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,211,958	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,016,559	M142K	probably damaging	Het
Cfap69	C	A	5: 5,596,018	V561F	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnajc3	A	G	14: 118,960,820	Q118R	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Fam184a	A	G	10: 53,647,570		probably null	Het
Fanca	A	G	8: 123,289,359		probably null	Het
Flt3	G	A	5: 147,348,063	P748L	probably benign	Het
Gbp2b	G	A	3: 142,606,735	S293N	probably benign	Het
Gbp8	T	C	5: 105,016,133	Q433R	possibly damaging	Het
Gm12874	G	A	4: 122,593,740		noncoding transcript	Het
Gpr65	A	T	12: 98,275,235	N49I	probably damaging	Het
Grip1	G	A	10: 119,985,584	V385M	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mast4	A	G	13: 102,798,207		probably benign	Het
Mia3	A	G	1: 183,334,793	Y295H	probably benign	Het
Morc3	T	A	16: 93,853,221		probably benign	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Npy2r	A	G	3: 82,541,039	V30A	possibly damaging	Het
Nsd2	A	T	5: 33,885,527	Q1045L	probably damaging	Het
Olfr1168	T	A	2: 88,185,621	I248N	probably damaging	Het
Olfr574	T	C	7: 102,949,257	F254S	probably damaging	Het
Otub1	T	A	19: 7,199,496		probably null	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Pdgfra	T	C	5: 75,185,523	V778A	probably benign	Het
Plekhm2	C	T	4: 141,642,732	E29K	probably damaging	Het
Ralgapa2	T	C	2: 146,342,683	N1468S	probably damaging	Het
Rnf111	T	C	9: 70,476,391	S87G	probably benign	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,478,975	D109N	probably damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc20a1	A	G	2: 129,206,474	R260G	possibly damaging	Het
Slk	T	C	19: 47,637,352	I1090T	probably damaging	Het
Spr-ps1	G	T	6: 85,155,963		noncoding transcript	Het
Ssh1	T	C	5: 113,942,703	S867G	possibly damaging	Het
St18	T	A	1: 6,845,572	C814S	probably damaging	Het
Stmn2	T	C	3: 8,541,895	F25S	probably damaging	Het
Taar3	A	G	10: 23,950,155	I200V	probably benign	Het
Tmem184c	A	G	8: 77,597,043	Y397H	probably damaging	Het
Tmem184c	T	C	8: 77,597,175	T353A	probably damaging	Het
Tuba1c	A	G	15: 99,037,876	H406R	probably damaging	Het
Ubr4	T	C	4: 139,413,462	S1231P	probably damaging	Het
Ubr5	A	T	15: 37,988,284	D2143E	probably damaging	Het
Vmn2r6	T	C	3: 64,556,669	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Zfp37	A	T	4: 62,191,636	L397Q	probably damaging	Het
Zmym2	G	A	14: 56,928,262	E681K	probably damaging	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
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
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'- GAAAGTTGCTGCTGGGCTTC -3'
(R):5'- AAAGCCAAGGACTGCATGGC -3'

Sequencing Primer
(F):5'- CTTGCCATTCAGAGCTGAGG -3'
(R):5'- ACTGCATGGCGGCTGTG -3'

Posted On

2014-10-16