Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02635:Golgb1'

301489

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: 0.918) question?

Stock #

IGL02635

Quality Score

Status

Chromosome

Chromosomal Location

36695502-36753447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36735375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1541 (V1541L)

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: V1582L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: V1582L

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: V1541L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: V1541L

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	C	12: 112,381,586 (GRCm39)		noncoding transcript	Het
Abcc12	C	T	8: 87,236,311 (GRCm39)		probably benign	Het
Akap9	T	C	5: 4,120,500 (GRCm39)	S3639P	possibly damaging	Het
Ankar	C	T	1: 72,691,590 (GRCm39)	V1124I	possibly damaging	Het
AW209491	C	T	13: 14,811,852 (GRCm39)	A235V	possibly damaging	Het
Cask	A	T	X: 13,581,009 (GRCm39)	D58E	probably damaging	Het
Cdhr4	T	A	9: 107,870,070 (GRCm39)	M25K	probably benign	Het
Clasp2	A	G	9: 113,737,910 (GRCm39)	I1096V	probably damaging	Het
Fam234a	T	A	17: 26,433,427 (GRCm39)	I410F	possibly damaging	Het
Gbe1	T	C	16: 70,365,902 (GRCm39)	L693P	probably damaging	Het
Gpr143	G	A	X: 151,591,257 (GRCm39)	E382K	probably damaging	Het
Gpr171	C	T	3: 59,005,017 (GRCm39)	V253I	probably benign	Het
Gsap	T	A	5: 21,494,814 (GRCm39)	W10R	probably damaging	Het
Hsd17b12	T	A	2: 93,913,556 (GRCm39)	D116V	possibly damaging	Het
Ifih1	A	T	2: 62,442,173 (GRCm39)	L348Q	probably damaging	Het
Ighv1-50	G	A	12: 115,083,615 (GRCm39)	A35V	probably benign	Het
Lrcol1	A	C	5: 110,502,459 (GRCm39)	M112L	probably benign	Het
Lrrc59	T	A	11: 94,534,282 (GRCm39)	V280E	probably damaging	Het
Med17	A	T	9: 15,185,845 (GRCm39)	I223K	probably damaging	Het
Oog3	T	C	4: 143,884,715 (GRCm39)	N407S	probably damaging	Het
Or4e1	T	C	14: 52,701,251 (GRCm39)	I72V	probably damaging	Het
Pear1	T	C	3: 87,657,453 (GRCm39)	*1035W	probably null	Het
Pkd1	T	A	17: 24,791,785 (GRCm39)	F1157L	probably damaging	Het
Pkp4	T	C	2: 59,135,842 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,631 (GRCm39)	E888G	probably benign	Het
Prh1	G	A	6: 132,549,246 (GRCm39)	G251E	unknown	Het
Prkar2a	A	G	9: 108,605,476 (GRCm39)	E178G	probably damaging	Het
Rfx6	A	T	10: 51,592,122 (GRCm39)	T352S	possibly damaging	Het
S1pr1	T	C	3: 115,505,739 (GRCm39)	K285R	probably benign	Het
Slc12a1	A	G	2: 125,067,898 (GRCm39)	H995R	probably benign	Het
Slc25a54	T	A	3: 109,020,133 (GRCm39)	N382K	possibly damaging	Het
Snrnp48	T	G	13: 38,393,845 (GRCm39)		probably benign	Het
Spg11	T	C	2: 121,943,549 (GRCm39)	D201G	possibly damaging	Het
Stox1	T	C	10: 62,500,685 (GRCm39)	D625G	probably benign	Het
Supt6	T	C	11: 78,103,565 (GRCm39)	H1380R	probably damaging	Het
Tcp1	T	A	17: 13,142,296 (GRCm39)	M430K	probably benign	Het
Tlr12	A	T	4: 128,510,609 (GRCm39)	V547E	probably damaging	Het
Tmem255b	G	T	8: 13,505,195 (GRCm39)	D167Y	probably damaging	Het
Trpc7	T	C	13: 56,923,981 (GRCm39)	R735G	probably damaging	Het
Trpm1	A	G	7: 63,848,972 (GRCm39)	T73A	probably benign	Het
Ubr3	A	T	2: 69,850,827 (GRCm39)	L1748F	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Ybx1	T	C	4: 119,136,286 (GRCm39)	N282S	possibly damaging	Het
Zdhhc12	T	A	2: 29,983,531 (GRCm39)	I24F	probably 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
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
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

2015-04-16