Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02973:Golgb1'

365909

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golgb1

Ensembl Gene

ENSMUSG00000034243

Gene Name

golgin B1

Synonyms

C130074L01Rik, Gm6840, F730017E11Rik, Giantin, 6330407A06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

IGL02973

Quality Score

Status

Chromosome

Chromosomal Location

36695502-36753447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36732442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 563 (R563H)

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: R604H

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: R604H

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: R563H

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: R563H

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,573,053 (GRCm39)	L193P	probably benign	Het
Ago2	A	T	15: 72,995,314 (GRCm39)		probably benign	Het
Ankrd26	A	G	6: 118,500,511 (GRCm39)	S987P	probably damaging	Het
Ap2a2	T	C	7: 141,211,277 (GRCm39)	F938L	possibly damaging	Het
Arhgap35	A	G	7: 16,296,803 (GRCm39)	V754A	possibly damaging	Het
Atp10b	A	T	11: 43,088,336 (GRCm39)	N314I	probably damaging	Het
Atp5f1a	T	C	18: 77,867,849 (GRCm39)	V291A	probably damaging	Het
Ccm2	C	A	11: 6,534,544 (GRCm39)	P19T	probably damaging	Het
Cdc5l	C	A	17: 45,715,573 (GRCm39)	A680S	probably benign	Het
Cds1	A	G	5: 101,960,376 (GRCm39)	T276A	probably damaging	Het
Cit	A	G	5: 116,144,058 (GRCm39)	R1976G	possibly damaging	Het
Col6a5	T	C	9: 105,803,020 (GRCm39)	D1315G	unknown	Het
Emilin1	T	G	5: 31,078,007 (GRCm39)	L922R	probably damaging	Het
Fank1	T	C	7: 133,478,578 (GRCm39)	L213P	probably damaging	Het
Foxc2	T	C	8: 121,844,788 (GRCm39)	S479P	probably benign	Het
Hoxb13	A	G	11: 96,085,669 (GRCm39)	Y134C	probably damaging	Het
Krtap4-16	A	T	11: 99,742,167 (GRCm39)	C78S	possibly damaging	Het
Lars1	C	T	18: 42,347,824 (GRCm39)		probably null	Het
Lipe	T	C	7: 25,083,057 (GRCm39)	N740S	probably damaging	Het
Mbd1	C	T	18: 74,408,498 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,203,721 (GRCm39)	D1700G	probably damaging	Het
Mpp7	A	G	18: 7,403,297 (GRCm39)	Y338H	probably damaging	Het
Pdgfrl	A	G	8: 41,438,631 (GRCm39)	D189G	probably damaging	Het
Pira12	T	C	7: 3,900,239 (GRCm39)	Y121C	probably damaging	Het
Plxnc1	T	C	10: 94,646,546 (GRCm39)	N1293S	probably damaging	Het
Ppm1e	C	A	11: 87,131,488 (GRCm39)	A302S	probably damaging	Het
Rassf8	A	G	6: 145,762,916 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,990,618 (GRCm39)	W52R	probably damaging	Het
Skint8	T	C	4: 111,796,790 (GRCm39)	V298A	probably benign	Het
Tulp1	A	T	17: 28,577,516 (GRCm39)		probably benign	Het
Unc5c	T	A	3: 141,494,651 (GRCm39)	D321E	probably benign	Het
Usp16	G	A	16: 87,276,627 (GRCm39)	C654Y	probably damaging	Het
Vwce	G	A	19: 10,632,764 (GRCm39)	W575*	probably null	Het
Wdr89	T	G	12: 75,679,873 (GRCm39)	D127A	probably damaging	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp942	A	G	17: 22,151,972 (GRCm39)		probably null	Het

Other mutations in Golgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Golgb1	APN	16	36,751,926 (GRCm39)	missense	probably damaging	1.00
IGL01717:Golgb1	APN	16	36,735,864 (GRCm39)	nonsense	probably null
IGL01965:Golgb1	APN	16	36,738,282 (GRCm39)	missense	probably damaging	1.00
IGL02128:Golgb1	APN	16	36,736,666 (GRCm39)	missense	probably damaging	1.00
IGL02268:Golgb1	APN	16	36,733,490 (GRCm39)	missense	probably benign	0.25
IGL02383:Golgb1	APN	16	36,706,562 (GRCm39)	missense	probably benign	0.01
IGL02444:Golgb1	APN	16	36,728,178 (GRCm39)	splice site	probably benign
IGL02635:Golgb1	APN	16	36,735,375 (GRCm39)	missense	probably benign	0.00
IGL02655:Golgb1	APN	16	36,738,442 (GRCm39)	missense	probably damaging	0.98
IGL02887:Golgb1	APN	16	36,746,211 (GRCm39)	missense	probably damaging	0.99
IGL02937:Golgb1	APN	16	36,736,572 (GRCm39)	missense	probably damaging	1.00
IGL02982:Golgb1	APN	16	36,746,172 (GRCm39)	missense	probably damaging	0.98
IGL03065:Golgb1	APN	16	36,733,228 (GRCm39)	missense	probably benign	0.11
IGL03109:Golgb1	APN	16	36,735,973 (GRCm39)	missense	possibly damaging	0.93
IGL03323:Golgb1	APN	16	36,733,815 (GRCm39)	nonsense	probably null
I2288:Golgb1	UTSW	16	36,718,904 (GRCm39)	missense	probably benign	0.00
I2289:Golgb1	UTSW	16	36,718,904 (GRCm39)	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36,735,865 (GRCm39)	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36,735,865 (GRCm39)	missense	probably benign	0.00
R0080:Golgb1	UTSW	16	36,718,973 (GRCm39)	missense	probably damaging	1.00
R0102:Golgb1	UTSW	16	36,695,830 (GRCm39)	intron	probably benign
R0242:Golgb1	UTSW	16	36,695,992 (GRCm39)	nonsense	probably null
R0242:Golgb1	UTSW	16	36,695,992 (GRCm39)	nonsense	probably null
R0276:Golgb1	UTSW	16	36,734,238 (GRCm39)	missense	probably damaging	1.00
R0394:Golgb1	UTSW	16	36,695,941 (GRCm39)	intron	probably benign
R0469:Golgb1	UTSW	16	36,751,997 (GRCm39)	missense	probably benign	0.41
R0522:Golgb1	UTSW	16	36,735,567 (GRCm39)	frame shift	probably null
R0575:Golgb1	UTSW	16	36,739,171 (GRCm39)	missense	probably benign
R0600:Golgb1	UTSW	16	36,736,633 (GRCm39)	missense	probably damaging	1.00
R0608:Golgb1	UTSW	16	36,736,692 (GRCm39)	nonsense	probably null
R0711:Golgb1	UTSW	16	36,739,152 (GRCm39)	missense	probably damaging	1.00
R0785:Golgb1	UTSW	16	36,719,152 (GRCm39)	missense	possibly damaging	0.95
R0893:Golgb1	UTSW	16	36,732,639 (GRCm39)	missense	possibly damaging	0.64
R1163:Golgb1	UTSW	16	36,736,488 (GRCm39)	missense	possibly damaging	0.50
R1208:Golgb1	UTSW	16	36,735,567 (GRCm39)	frame shift	probably null
R1315:Golgb1	UTSW	16	36,735,262 (GRCm39)	missense	probably benign	0.40
R1429:Golgb1	UTSW	16	36,720,925 (GRCm39)	missense	possibly damaging	0.93
R1505:Golgb1	UTSW	16	36,740,005 (GRCm39)	missense	possibly damaging	0.79
R1537:Golgb1	UTSW	16	36,719,150 (GRCm39)	missense	possibly damaging	0.89
R1610:Golgb1	UTSW	16	36,746,463 (GRCm39)	missense	probably benign	0.25
R1659:Golgb1	UTSW	16	36,707,979 (GRCm39)	missense	probably benign	0.01
R1769:Golgb1	UTSW	16	36,736,363 (GRCm39)	missense	probably damaging	1.00
R2105:Golgb1	UTSW	16	36,735,026 (GRCm39)	missense	probably benign
R2212:Golgb1	UTSW	16	36,707,709 (GRCm39)	missense	probably damaging	1.00
R2261:Golgb1	UTSW	16	36,713,722 (GRCm39)	missense	probably damaging	1.00
R2352:Golgb1	UTSW	16	36,718,921 (GRCm39)	missense	probably damaging	0.99
R2357:Golgb1	UTSW	16	36,732,370 (GRCm39)	missense	probably damaging	1.00
R2400:Golgb1	UTSW	16	36,738,828 (GRCm39)	missense	possibly damaging	0.62
R2513:Golgb1	UTSW	16	36,735,513 (GRCm39)	missense	possibly damaging	0.73
R3103:Golgb1	UTSW	16	36,715,211 (GRCm39)	missense	probably damaging	1.00
R3413:Golgb1	UTSW	16	36,707,709 (GRCm39)	missense	probably damaging	1.00
R3748:Golgb1	UTSW	16	36,739,274 (GRCm39)	missense	probably benign	0.00
R3847:Golgb1	UTSW	16	36,719,095 (GRCm39)	missense	probably benign	0.00
R3850:Golgb1	UTSW	16	36,719,095 (GRCm39)	missense	probably benign	0.00
R3936:Golgb1	UTSW	16	36,734,418 (GRCm39)	nonsense	probably null
R3975:Golgb1	UTSW	16	36,738,933 (GRCm39)	missense	probably damaging	0.99
R4025:Golgb1	UTSW	16	36,735,706 (GRCm39)	missense	probably benign	0.00
R4369:Golgb1	UTSW	16	36,737,269 (GRCm39)	missense	probably damaging	1.00
R4518:Golgb1	UTSW	16	36,749,625 (GRCm39)	missense	probably damaging	0.98
R4600:Golgb1	UTSW	16	36,738,987 (GRCm39)	missense	probably damaging	1.00
R4610:Golgb1	UTSW	16	36,738,987 (GRCm39)	missense	probably damaging	1.00
R4660:Golgb1	UTSW	16	36,707,980 (GRCm39)	missense	probably damaging	0.99
R4811:Golgb1	UTSW	16	36,711,781 (GRCm39)	missense	probably damaging	1.00
R4815:Golgb1	UTSW	16	36,733,477 (GRCm39)	missense	possibly damaging	0.79
R4835:Golgb1	UTSW	16	36,711,769 (GRCm39)	missense	possibly damaging	0.86
R4904:Golgb1	UTSW	16	36,713,748 (GRCm39)	missense	probably damaging	1.00
R4916:Golgb1	UTSW	16	36,736,480 (GRCm39)	missense	probably benign	0.05
R5121:Golgb1	UTSW	16	36,739,620 (GRCm39)	missense	probably damaging	0.99
R5133:Golgb1	UTSW	16	36,711,819 (GRCm39)	missense	possibly damaging	0.75
R5143:Golgb1	UTSW	16	36,719,051 (GRCm39)	missense	probably benign	0.09
R5185:Golgb1	UTSW	16	36,695,503 (GRCm39)	unclassified	probably benign
R5188:Golgb1	UTSW	16	36,738,827 (GRCm39)	missense	probably benign	0.13
R5260:Golgb1	UTSW	16	36,733,503 (GRCm39)	missense	probably benign	0.00
R5297:Golgb1	UTSW	16	36,695,978 (GRCm39)	intron	probably benign
R5386:Golgb1	UTSW	16	36,732,677 (GRCm39)	nonsense	probably null
R5438:Golgb1	UTSW	16	36,720,870 (GRCm39)	missense	probably benign	0.15
R5439:Golgb1	UTSW	16	36,720,870 (GRCm39)	missense	probably benign	0.15
R5494:Golgb1	UTSW	16	36,749,045 (GRCm39)	missense	possibly damaging	0.67
R5592:Golgb1	UTSW	16	36,746,125 (GRCm39)	missense	probably benign	0.02
R5740:Golgb1	UTSW	16	36,739,362 (GRCm39)	missense	probably damaging	0.99
R5862:Golgb1	UTSW	16	36,746,453 (GRCm39)	splice site	silent
R5928:Golgb1	UTSW	16	36,732,349 (GRCm39)	missense	probably damaging	1.00
R6009:Golgb1	UTSW	16	36,735,321 (GRCm39)	missense	probably damaging	1.00
R6062:Golgb1	UTSW	16	36,735,033 (GRCm39)	missense	possibly damaging	0.89
R6102:Golgb1	UTSW	16	36,733,227 (GRCm39)	missense	probably damaging	1.00
R6198:Golgb1	UTSW	16	36,713,757 (GRCm39)	missense	probably damaging	1.00
R6253:Golgb1	UTSW	16	36,735,984 (GRCm39)	missense	possibly damaging	0.77
R6254:Golgb1	UTSW	16	36,734,340 (GRCm39)	missense	probably damaging	0.99
R6321:Golgb1	UTSW	16	36,738,559 (GRCm39)	nonsense	probably null
R6700:Golgb1	UTSW	16	36,695,946 (GRCm39)	intron	probably benign
R6870:Golgb1	UTSW	16	36,738,565 (GRCm39)	missense	probably damaging	1.00
R6882:Golgb1	UTSW	16	36,734,352 (GRCm39)	missense	probably benign
R6944:Golgb1	UTSW	16	36,732,475 (GRCm39)	missense	probably benign
R7108:Golgb1	UTSW	16	36,734,083 (GRCm39)	missense	probably benign	0.01
R7124:Golgb1	UTSW	16	36,734,035 (GRCm39)	missense	probably benign	0.01
R7125:Golgb1	UTSW	16	36,738,325 (GRCm39)	missense	possibly damaging	0.85
R7187:Golgb1	UTSW	16	36,736,512 (GRCm39)	missense	probably benign	0.43
R7205:Golgb1	UTSW	16	36,695,663 (GRCm39)	missense	unknown
R7206:Golgb1	UTSW	16	36,734,111 (GRCm39)	missense	probably benign	0.41
R7233:Golgb1	UTSW	16	36,735,120 (GRCm39)	missense	possibly damaging	0.91
R7320:Golgb1	UTSW	16	36,736,313 (GRCm39)	nonsense	probably null
R7367:Golgb1	UTSW	16	36,718,908 (GRCm39)	missense	probably benign	0.00
R7408:Golgb1	UTSW	16	36,718,909 (GRCm39)	missense	probably damaging	0.98
R7419:Golgb1	UTSW	16	36,733,281 (GRCm39)	missense	possibly damaging	0.95
R7556:Golgb1	UTSW	16	36,736,155 (GRCm39)	missense	probably benign	0.03
R7599:Golgb1	UTSW	16	36,695,758 (GRCm39)	missense	unknown
R7673:Golgb1	UTSW	16	36,734,031 (GRCm39)	missense	probably benign	0.05
R7789:Golgb1	UTSW	16	36,695,761 (GRCm39)	missense	unknown
R7792:Golgb1	UTSW	16	36,739,092 (GRCm39)	missense	probably benign	0.43
R7830:Golgb1	UTSW	16	36,719,083 (GRCm39)	missense	possibly damaging	0.93
R7847:Golgb1	UTSW	16	36,752,282 (GRCm39)	missense	probably damaging	1.00
R7905:Golgb1	UTSW	16	36,734,047 (GRCm39)	missense	probably benign
R7944:Golgb1	UTSW	16	36,734,466 (GRCm39)	missense	probably benign	0.02
R7945:Golgb1	UTSW	16	36,734,466 (GRCm39)	missense	probably benign	0.02
R7950:Golgb1	UTSW	16	36,735,786 (GRCm39)	missense	probably benign	0.13
R8040:Golgb1	UTSW	16	36,733,841 (GRCm39)	missense	possibly damaging	0.85
R8077:Golgb1	UTSW	16	36,738,995 (GRCm39)	missense	probably damaging	0.99
R8181:Golgb1	UTSW	16	36,737,192 (GRCm39)	missense	probably damaging	1.00
R8370:Golgb1	UTSW	16	36,732,679 (GRCm39)	missense	probably benign	0.00
R8684:Golgb1	UTSW	16	36,734,764 (GRCm39)	missense	possibly damaging	0.92
R8725:Golgb1	UTSW	16	36,739,563 (GRCm39)	missense	probably damaging	1.00
R8727:Golgb1	UTSW	16	36,739,563 (GRCm39)	missense	probably damaging	1.00
R8738:Golgb1	UTSW	16	36,736,675 (GRCm39)	missense	probably damaging	1.00
R8785:Golgb1	UTSW	16	36,740,106 (GRCm39)	missense	probably damaging	0.99
R8824:Golgb1	UTSW	16	36,736,051 (GRCm39)	missense	probably benign
R8825:Golgb1	UTSW	16	36,739,809 (GRCm39)	missense	probably benign	0.00
R8940:Golgb1	UTSW	16	36,736,759 (GRCm39)	missense	probably damaging	1.00
R8962:Golgb1	UTSW	16	36,733,978 (GRCm39)	missense	probably damaging	1.00
R9245:Golgb1	UTSW	16	36,739,181 (GRCm39)	nonsense	probably null
R9365:Golgb1	UTSW	16	36,736,124 (GRCm39)	missense	probably damaging	1.00
R9612:Golgb1	UTSW	16	36,739,967 (GRCm39)	missense	probably benign	0.41
R9620:Golgb1	UTSW	16	36,739,811 (GRCm39)	missense	probably benign
R9691:Golgb1	UTSW	16	36,718,996 (GRCm39)	missense	probably damaging	1.00
R9747:Golgb1	UTSW	16	36,713,769 (GRCm39)	missense	probably damaging	1.00
V1662:Golgb1	UTSW	16	36,718,904 (GRCm39)	missense	probably benign	0.00
X0067:Golgb1	UTSW	16	36,734,665 (GRCm39)	nonsense	probably null
Z1088:Golgb1	UTSW	16	36,740,104 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18