Mutagenetix > Incidental Mutation

Incidental Mutation 'R2400:Golgb1'

248668

Institutional Source

Beutler Lab

Gene Symbol

Golgb1

Ensembl Gene

ENSMUSG00000034243

Gene Name

golgin B1

Synonyms

C130074L01Rik, Gm6840, F730017E11Rik, Giantin, 6330407A06Rik

MMRRC Submission

040366-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R2400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36695502-36753447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36738828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 2389 (T2389K)

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: T2430K

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: T2430K

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: T2389K

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: T2389K

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,377,566 (GRCm39)	T133A	unknown	Het
Adgrl2	G	T	3: 148,557,570 (GRCm39)	S519R	probably damaging	Het
AU041133	A	T	10: 81,986,742 (GRCm39)	K132*	probably null	Het
Bhlhe22	A	G	3: 18,109,615 (GRCm39)	N222D	probably damaging	Het
Cep72	C	A	13: 74,197,096 (GRCm39)	A69S	probably damaging	Het
Csn1s2a	T	A	5: 87,928,014 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,900,030 (GRCm39)	F872I	probably benign	Het
Dhx57	T	C	17: 80,567,845 (GRCm39)	D746G	probably damaging	Het
Dnah17	T	A	11: 118,017,210 (GRCm39)		probably null	Het
Fgg	A	G	3: 82,915,494 (GRCm39)	D37G	possibly damaging	Het
Fnip2	G	T	3: 79,386,941 (GRCm39)	S958R	probably benign	Het
Gfpt1	A	G	6: 87,064,330 (GRCm39)	D640G	probably damaging	Het
Hmgcl	C	A	4: 135,679,679 (GRCm39)		probably null	Het
Mmp11	T	A	10: 75,761,344 (GRCm39)	T419S	probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Nkiras1	T	A	14: 18,280,011 (GRCm38)	V108E	possibly damaging	Het
Pcsk1	T	C	13: 75,238,245 (GRCm39)	L22P	probably benign	Het
Rnf213	T	C	11: 119,334,021 (GRCm39)	Y3077H	probably damaging	Het
Sec62	A	G	3: 30,864,681 (GRCm39)	N182D	unknown	Het
Serpinb5	A	G	1: 106,809,682 (GRCm39)	T363A	probably damaging	Het
Usf3	T	A	16: 44,036,110 (GRCm39)	S197T	probably benign	Het
Vmn2r11	T	A	5: 109,199,928 (GRCm39)	E508D	probably benign	Het
Wdr81	A	G	11: 75,339,861 (GRCm39)	F1376L	probably benign	Het
Zfp260	T	C	7: 29,804,126 (GRCm39)	S9P	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTGCACGACGAAATCAATG -3'
(R):5'- TTCTCAGCAGCAGCATCTTGG -3'

Sequencing Primer
(F):5'- CAGAAGATCATAAGCCTGCTTTCTGG -3'
(R):5'- CAGCAGCATCTTGGATGAGC -3'

Posted On

2014-11-11