Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02444:Golgb1'

293530

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golgb1

Ensembl Gene

ENSMUSG00000034243

Gene Name

golgi autoantigen, golgin subfamily b, macrogolgin 1

Synonyms

Giantin, C130074L01Rik, F730017E11Rik, Gm6840, 6330407A06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL02444

Quality Score

Status

Chromosome

Chromosomal Location

36875140-36933085 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 36907816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110460 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039855

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243

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

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 43,569,673 (GRCm38)	I260T	possibly damaging	Het
Arhgap9	T	A	10: 127,327,947 (GRCm38)	V484D	probably damaging	Het
Asph	A	G	4: 9,542,319 (GRCm38)		probably benign	Het
Bbs9	T	C	9: 22,643,787 (GRCm38)	S457P	probably damaging	Het
Bckdk	A	G	7: 127,907,446 (GRCm38)	T38A	probably damaging	Het
Cast	G	A	13: 74,739,853 (GRCm38)	T240I	probably damaging	Het
Cdc27	T	C	11: 104,522,716 (GRCm38)		probably benign	Het
Cdon	T	C	9: 35,473,448 (GRCm38)	S677P	probably benign	Het
Cfap161	T	C	7: 83,776,145 (GRCm38)	E246G	probably damaging	Het
Dnah11	G	A	12: 117,975,873 (GRCm38)		probably benign	Het
Dnm3	C	T	1: 162,010,875 (GRCm38)	V835I	possibly damaging	Het
Eif3a	T	C	19: 60,773,607 (GRCm38)	H510R	possibly damaging	Het
Fbxw2	G	T	2: 34,805,781 (GRCm38)	T367K	probably benign	Het
Ghsr	T	C	3: 27,372,040 (GRCm38)	S82P	probably benign	Het
Gm4353	C	T	7: 116,083,444 (GRCm38)	V301I	probably benign	Het
Gria2	T	A	3: 80,702,553 (GRCm38)	M650L	possibly damaging	Het
Herc4	T	C	10: 63,306,433 (GRCm38)	V671A	probably benign	Het
Iqcb1	T	A	16: 36,831,911 (GRCm38)	Y61*	probably null	Het
Irs2	C	T	8: 11,006,306 (GRCm38)	G709S	probably benign	Het
Itpripl1	T	G	2: 127,141,701 (GRCm38)	H167P	possibly damaging	Het
Kcnn3	T	C	3: 89,652,052 (GRCm38)	V543A	possibly damaging	Het
Klf10	T	A	15: 38,297,824 (GRCm38)	K43M	probably damaging	Het
Lcor	C	T	19: 41,559,011 (GRCm38)	R345C	probably damaging	Het
Lmntd2	A	G	7: 141,211,919 (GRCm38)	S304P	probably damaging	Het
Lpar3	T	C	3: 146,241,194 (GRCm38)	I209T	probably damaging	Het
Map3k13	T	A	16: 21,914,232 (GRCm38)	M528K	probably benign	Het
Me1	A	T	9: 86,582,914 (GRCm38)		probably benign	Het
Nedd4l	T	G	18: 65,203,957 (GRCm38)		probably benign	Het
Oas1d	T	A	5: 120,920,008 (GRCm38)	F338L	probably benign	Het
Olfr15	T	C	16: 3,839,687 (GRCm38)	F238S	probably damaging	Het
Olfr362	G	T	2: 37,104,774 (GRCm38)	P292Q	probably damaging	Het
Pcdhb5	T	C	18: 37,321,050 (GRCm38)	V161A	probably benign	Het
Prdx3	A	T	19: 60,871,461 (GRCm38)	F91L	possibly damaging	Het
Rab25	T	C	3: 88,542,713 (GRCm38)	T114A	probably benign	Het
Rasal2	T	C	1: 157,299,195 (GRCm38)	E73G	probably benign	Het
Slco4c1	A	G	1: 96,844,509 (GRCm38)	S252P	probably damaging	Het
Srgap2	A	C	1: 131,325,153 (GRCm38)		probably null	Het
Synpo	A	G	18: 60,602,430 (GRCm38)	S576P	probably damaging	Het
Tktl2	G	T	8: 66,513,361 (GRCm38)	A524S	possibly damaging	Het
Tln2	A	T	9: 67,258,592 (GRCm38)		probably benign	Het
Tmem52	G	A	4: 155,470,393 (GRCm38)	D158N	probably damaging	Het
Tyw3	T	A	3: 154,596,989 (GRCm38)	Q36L	probably damaging	Het
Usp10	A	T	8: 119,948,693 (GRCm38)	I483F	possibly damaging	Het
Usp31	A	G	7: 121,679,495 (GRCm38)	Y216H	probably damaging	Het
Vmn1r181	T	C	7: 23,984,523 (GRCm38)	S138P	probably damaging	Het
Vmn2r42	G	T	7: 8,184,313 (GRCm38)	A770E	probably damaging	Het
Zfp292	A	C	4: 34,808,810 (GRCm38)	S1411R	possibly damaging	Het

Other mutations in Golgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Golgb1	APN	16	36,931,564 (GRCm38)	missense	probably damaging	1.00
IGL01717:Golgb1	APN	16	36,915,502 (GRCm38)	nonsense	probably null
IGL01965:Golgb1	APN	16	36,917,920 (GRCm38)	missense	probably damaging	1.00
IGL02128:Golgb1	APN	16	36,916,304 (GRCm38)	missense	probably damaging	1.00
IGL02268:Golgb1	APN	16	36,913,128 (GRCm38)	missense	probably benign	0.25
IGL02383:Golgb1	APN	16	36,886,200 (GRCm38)	missense	probably benign	0.01
IGL02635:Golgb1	APN	16	36,915,013 (GRCm38)	missense	probably benign	0.00
IGL02655:Golgb1	APN	16	36,918,080 (GRCm38)	missense	probably damaging	0.98
IGL02887:Golgb1	APN	16	36,925,849 (GRCm38)	missense	probably damaging	0.99
IGL02937:Golgb1	APN	16	36,916,210 (GRCm38)	missense	probably damaging	1.00
IGL02973:Golgb1	APN	16	36,912,080 (GRCm38)	missense	possibly damaging	0.92
IGL02982:Golgb1	APN	16	36,925,810 (GRCm38)	missense	probably damaging	0.98
IGL03065:Golgb1	APN	16	36,912,866 (GRCm38)	missense	probably benign	0.11
IGL03109:Golgb1	APN	16	36,915,611 (GRCm38)	missense	possibly damaging	0.93
IGL03323:Golgb1	APN	16	36,913,453 (GRCm38)	nonsense	probably null
I2288:Golgb1	UTSW	16	36,898,542 (GRCm38)	missense	probably benign	0.00
I2289:Golgb1	UTSW	16	36,898,542 (GRCm38)	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36,915,503 (GRCm38)	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36,915,503 (GRCm38)	missense	probably benign	0.00
R0080:Golgb1	UTSW	16	36,898,611 (GRCm38)	missense	probably damaging	1.00
R0102:Golgb1	UTSW	16	36,875,468 (GRCm38)	intron	probably benign
R0242:Golgb1	UTSW	16	36,875,630 (GRCm38)	nonsense	probably null
R0242:Golgb1	UTSW	16	36,875,630 (GRCm38)	nonsense	probably null
R0276:Golgb1	UTSW	16	36,913,876 (GRCm38)	missense	probably damaging	1.00
R0394:Golgb1	UTSW	16	36,875,579 (GRCm38)	intron	probably benign
R0469:Golgb1	UTSW	16	36,931,635 (GRCm38)	missense	probably benign	0.41
R0522:Golgb1	UTSW	16	36,915,205 (GRCm38)	frame shift	probably null
R0575:Golgb1	UTSW	16	36,918,809 (GRCm38)	missense	probably benign
R0600:Golgb1	UTSW	16	36,916,271 (GRCm38)	missense	probably damaging	1.00
R0608:Golgb1	UTSW	16	36,916,330 (GRCm38)	nonsense	probably null
R0711:Golgb1	UTSW	16	36,918,790 (GRCm38)	missense	probably damaging	1.00
R0785:Golgb1	UTSW	16	36,898,790 (GRCm38)	missense	possibly damaging	0.95
R0893:Golgb1	UTSW	16	36,912,277 (GRCm38)	missense	possibly damaging	0.64
R1163:Golgb1	UTSW	16	36,916,126 (GRCm38)	missense	possibly damaging	0.50
R1208:Golgb1	UTSW	16	36,915,205 (GRCm38)	frame shift	probably null
R1315:Golgb1	UTSW	16	36,914,900 (GRCm38)	missense	probably benign	0.40
R1429:Golgb1	UTSW	16	36,900,563 (GRCm38)	missense	possibly damaging	0.93
R1505:Golgb1	UTSW	16	36,919,643 (GRCm38)	missense	possibly damaging	0.79
R1537:Golgb1	UTSW	16	36,898,788 (GRCm38)	missense	possibly damaging	0.89
R1610:Golgb1	UTSW	16	36,926,101 (GRCm38)	missense	probably benign	0.25
R1659:Golgb1	UTSW	16	36,887,617 (GRCm38)	missense	probably benign	0.01
R1769:Golgb1	UTSW	16	36,916,001 (GRCm38)	missense	probably damaging	1.00
R2105:Golgb1	UTSW	16	36,914,664 (GRCm38)	missense	probably benign
R2212:Golgb1	UTSW	16	36,887,347 (GRCm38)	missense	probably damaging	1.00
R2261:Golgb1	UTSW	16	36,893,360 (GRCm38)	missense	probably damaging	1.00
R2352:Golgb1	UTSW	16	36,898,559 (GRCm38)	missense	probably damaging	0.99
R2357:Golgb1	UTSW	16	36,912,008 (GRCm38)	missense	probably damaging	1.00
R2400:Golgb1	UTSW	16	36,918,466 (GRCm38)	missense	possibly damaging	0.62
R2513:Golgb1	UTSW	16	36,915,151 (GRCm38)	missense	possibly damaging	0.73
R3103:Golgb1	UTSW	16	36,894,849 (GRCm38)	missense	probably damaging	1.00
R3413:Golgb1	UTSW	16	36,887,347 (GRCm38)	missense	probably damaging	1.00
R3748:Golgb1	UTSW	16	36,918,912 (GRCm38)	missense	probably benign	0.00
R3847:Golgb1	UTSW	16	36,898,733 (GRCm38)	missense	probably benign	0.00
R3850:Golgb1	UTSW	16	36,898,733 (GRCm38)	missense	probably benign	0.00
R3936:Golgb1	UTSW	16	36,914,056 (GRCm38)	nonsense	probably null
R3975:Golgb1	UTSW	16	36,918,571 (GRCm38)	missense	probably damaging	0.99
R4025:Golgb1	UTSW	16	36,915,344 (GRCm38)	missense	probably benign	0.00
R4369:Golgb1	UTSW	16	36,916,907 (GRCm38)	missense	probably damaging	1.00
R4518:Golgb1	UTSW	16	36,929,263 (GRCm38)	missense	probably damaging	0.98
R4600:Golgb1	UTSW	16	36,918,625 (GRCm38)	missense	probably damaging	1.00
R4610:Golgb1	UTSW	16	36,918,625 (GRCm38)	missense	probably damaging	1.00
R4660:Golgb1	UTSW	16	36,887,618 (GRCm38)	missense	probably damaging	0.99
R4811:Golgb1	UTSW	16	36,891,419 (GRCm38)	missense	probably damaging	1.00
R4815:Golgb1	UTSW	16	36,913,115 (GRCm38)	missense	possibly damaging	0.79
R4835:Golgb1	UTSW	16	36,891,407 (GRCm38)	missense	possibly damaging	0.86
R4904:Golgb1	UTSW	16	36,893,386 (GRCm38)	missense	probably damaging	1.00
R4916:Golgb1	UTSW	16	36,916,118 (GRCm38)	missense	probably benign	0.05
R5121:Golgb1	UTSW	16	36,919,258 (GRCm38)	missense	probably damaging	0.99
R5133:Golgb1	UTSW	16	36,891,457 (GRCm38)	missense	possibly damaging	0.75
R5143:Golgb1	UTSW	16	36,898,689 (GRCm38)	missense	probably benign	0.09
R5185:Golgb1	UTSW	16	36,875,141 (GRCm38)	unclassified	probably benign
R5188:Golgb1	UTSW	16	36,918,465 (GRCm38)	missense	probably benign	0.13
R5260:Golgb1	UTSW	16	36,913,141 (GRCm38)	missense	probably benign	0.00
R5297:Golgb1	UTSW	16	36,875,616 (GRCm38)	intron	probably benign
R5386:Golgb1	UTSW	16	36,912,315 (GRCm38)	nonsense	probably null
R5438:Golgb1	UTSW	16	36,900,508 (GRCm38)	missense	probably benign	0.15
R5439:Golgb1	UTSW	16	36,900,508 (GRCm38)	missense	probably benign	0.15
R5494:Golgb1	UTSW	16	36,928,683 (GRCm38)	missense	possibly damaging	0.67
R5592:Golgb1	UTSW	16	36,925,763 (GRCm38)	missense	probably benign	0.02
R5740:Golgb1	UTSW	16	36,919,000 (GRCm38)	missense	probably damaging	0.99
R5862:Golgb1	UTSW	16	36,926,091 (GRCm38)	splice site	silent
R5928:Golgb1	UTSW	16	36,911,987 (GRCm38)	missense	probably damaging	1.00
R6009:Golgb1	UTSW	16	36,914,959 (GRCm38)	missense	probably damaging	1.00
R6062:Golgb1	UTSW	16	36,914,671 (GRCm38)	missense	possibly damaging	0.89
R6102:Golgb1	UTSW	16	36,912,865 (GRCm38)	missense	probably damaging	1.00
R6198:Golgb1	UTSW	16	36,893,395 (GRCm38)	missense	probably damaging	1.00
R6253:Golgb1	UTSW	16	36,915,622 (GRCm38)	missense	possibly damaging	0.77
R6254:Golgb1	UTSW	16	36,913,978 (GRCm38)	missense	probably damaging	0.99
R6321:Golgb1	UTSW	16	36,918,197 (GRCm38)	nonsense	probably null
R6700:Golgb1	UTSW	16	36,875,584 (GRCm38)	intron	probably benign
R6870:Golgb1	UTSW	16	36,918,203 (GRCm38)	missense	probably damaging	1.00
R6882:Golgb1	UTSW	16	36,913,990 (GRCm38)	missense	probably benign
R6944:Golgb1	UTSW	16	36,912,113 (GRCm38)	missense	probably benign
R7108:Golgb1	UTSW	16	36,913,721 (GRCm38)	missense	probably benign	0.01
R7124:Golgb1	UTSW	16	36,913,673 (GRCm38)	missense	probably benign	0.01
R7125:Golgb1	UTSW	16	36,917,963 (GRCm38)	missense	possibly damaging	0.85
R7187:Golgb1	UTSW	16	36,916,150 (GRCm38)	missense	probably benign	0.43
R7205:Golgb1	UTSW	16	36,875,301 (GRCm38)	missense	unknown
R7206:Golgb1	UTSW	16	36,913,749 (GRCm38)	missense	probably benign	0.41
R7233:Golgb1	UTSW	16	36,914,758 (GRCm38)	missense	possibly damaging	0.91
R7320:Golgb1	UTSW	16	36,915,951 (GRCm38)	nonsense	probably null
R7367:Golgb1	UTSW	16	36,898,546 (GRCm38)	missense	probably benign	0.00
R7408:Golgb1	UTSW	16	36,898,547 (GRCm38)	missense	probably damaging	0.98
R7419:Golgb1	UTSW	16	36,912,919 (GRCm38)	missense	possibly damaging	0.95
R7556:Golgb1	UTSW	16	36,915,793 (GRCm38)	missense	probably benign	0.03
R7599:Golgb1	UTSW	16	36,875,396 (GRCm38)	missense	unknown
R7673:Golgb1	UTSW	16	36,913,669 (GRCm38)	missense	probably benign	0.05
R7789:Golgb1	UTSW	16	36,875,399 (GRCm38)	missense	unknown
R7792:Golgb1	UTSW	16	36,918,730 (GRCm38)	missense	probably benign	0.43
R7830:Golgb1	UTSW	16	36,898,721 (GRCm38)	missense	possibly damaging	0.93
R7847:Golgb1	UTSW	16	36,931,920 (GRCm38)	missense	probably damaging	1.00
R7905:Golgb1	UTSW	16	36,913,685 (GRCm38)	missense	probably benign
R7944:Golgb1	UTSW	16	36,914,104 (GRCm38)	missense	probably benign	0.02
R7945:Golgb1	UTSW	16	36,914,104 (GRCm38)	missense	probably benign	0.02
R7950:Golgb1	UTSW	16	36,915,424 (GRCm38)	missense	probably benign	0.13
R8040:Golgb1	UTSW	16	36,913,479 (GRCm38)	missense	possibly damaging	0.85
R8077:Golgb1	UTSW	16	36,918,633 (GRCm38)	missense	probably damaging	0.99
R8181:Golgb1	UTSW	16	36,916,830 (GRCm38)	missense	probably damaging	1.00
R8370:Golgb1	UTSW	16	36,912,317 (GRCm38)	missense	probably benign	0.00
R8684:Golgb1	UTSW	16	36,914,402 (GRCm38)	missense	possibly damaging	0.92
R8725:Golgb1	UTSW	16	36,919,201 (GRCm38)	missense	probably damaging	1.00
R8727:Golgb1	UTSW	16	36,919,201 (GRCm38)	missense	probably damaging	1.00
R8738:Golgb1	UTSW	16	36,916,313 (GRCm38)	missense	probably damaging	1.00
R8785:Golgb1	UTSW	16	36,919,744 (GRCm38)	missense	probably damaging	0.99
R8824:Golgb1	UTSW	16	36,915,689 (GRCm38)	missense	probably benign
R8825:Golgb1	UTSW	16	36,919,447 (GRCm38)	missense	probably benign	0.00
R8940:Golgb1	UTSW	16	36,916,397 (GRCm38)	missense	probably damaging	1.00
R8962:Golgb1	UTSW	16	36,913,616 (GRCm38)	missense	probably damaging	1.00
R9245:Golgb1	UTSW	16	36,918,819 (GRCm38)	nonsense	probably null
R9365:Golgb1	UTSW	16	36,915,762 (GRCm38)	missense	probably damaging	1.00
R9612:Golgb1	UTSW	16	36,919,605 (GRCm38)	missense	probably benign	0.41
R9620:Golgb1	UTSW	16	36,919,449 (GRCm38)	missense	probably benign
R9691:Golgb1	UTSW	16	36,898,634 (GRCm38)	missense	probably damaging	1.00
R9747:Golgb1	UTSW	16	36,893,407 (GRCm38)	missense	probably damaging	1.00
V1662:Golgb1	UTSW	16	36,898,542 (GRCm38)	missense	probably benign	0.00
X0067:Golgb1	UTSW	16	36,914,303 (GRCm38)	nonsense	probably null
Z1088:Golgb1	UTSW	16	36,919,742 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16