Mutagenetix > Incidental Mutation

Incidental Mutation 'R3748:Golgb1'

309947

Institutional Source

Beutler Lab

Gene Symbol

Golgb1

Ensembl Gene

ENSMUSG00000034243

Gene Name

golgin B1

Synonyms

C130074L01Rik, Gm6840, F730017E11Rik, Giantin, 6330407A06Rik

MMRRC Submission

040733-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R3748 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

36695502-36753447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 36739274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 2538 (D2538H)

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
AA Change: D2579H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: D2579H

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: D2538H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: D2538H

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,422 (GRCm39)		probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca13	T	C	11: 9,266,119 (GRCm39)		probably benign	Het
Acaca	A	G	11: 84,202,235 (GRCm39)		probably null	Het
Adam2	C	T	14: 66,297,361 (GRCm39)	V182I	probably benign	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Cfap68	A	G	9: 50,677,050 (GRCm39)	C14R	probably benign	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cmss1	T	C	16: 57,122,635 (GRCm39)	E253G	probably damaging	Het
Csmd1	T	G	8: 15,956,071 (GRCm39)	N3379H	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Daam1	C	A	12: 72,017,940 (GRCm39)	D716E	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Hoxc12	A	G	15: 102,846,813 (GRCm39)	E235G	probably damaging	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mfsd4b4	A	G	10: 39,770,132 (GRCm39)		probably benign	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nrp1	T	C	8: 129,184,461 (GRCm39)	W369R	probably damaging	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Or13a19	T	C	7: 139,903,041 (GRCm39)	L143P	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Tdh	T	C	14: 63,733,442 (GRCm39)	T149A	probably benign	Het
Tnip3	C	T	6: 65,591,747 (GRCm39)	L249F	probably damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vmn2r27	T	C	6: 124,207,351 (GRCm39)	I97V	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly damaging	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
IGL02973:Golgb1	APN	16	36,732,442 (GRCm39)	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- GTTGCGAAGTCACATGGATG -3'
(R):5'- CTGCAGTTCTCTTCTGGGAG -3'

Sequencing Primer
(F):5'- TGCGAAGTCACATGGATGATCTC -3'
(R):5'- GGAGGAGAGAGCCATATTTAGCCTC -3'

Posted On

2015-04-17