Incidental Mutation 'IGL02128:Golgb1'
ID |
280953 |
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 |
Genbank: NM_030035.1
|
Is this an essential gene? |
Probably essential
(E-score: 0.866)
|
Stock # |
IGL02128
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
36875140-36933085 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 36916304 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 1971
(L1971R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039855]
[ENSMUST00000114812]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039855
AA Change: L2012R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045239 Gene: ENSMUSG00000034243 AA Change: L2012R
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 damaging
Transcript: ENSMUST00000114812
AA Change: L1971R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110460 Gene: ENSMUSG00000034243 AA Change: L1971R
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad1 |
A |
T |
19: 32,687,327 |
|
probably benign |
Het |
Bard1 |
T |
C |
1: 71,075,228 |
K198R |
possibly damaging |
Het |
Brca1 |
A |
G |
11: 101,530,982 |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,939,894 |
E406G |
unknown |
Het |
Csgalnact1 |
C |
A |
8: 68,401,492 |
G219V |
probably damaging |
Het |
Cxcr2 |
A |
G |
1: 74,158,994 |
T216A |
probably benign |
Het |
Dnah7a |
C |
T |
1: 53,437,513 |
S3424N |
probably damaging |
Het |
Gm17660 |
A |
G |
5: 104,074,703 |
|
probably null |
Het |
Hspg2 |
T |
G |
4: 137,564,016 |
C3892W |
probably damaging |
Het |
Jmjd1c |
T |
C |
10: 67,243,869 |
L2214P |
probably damaging |
Het |
Klkb1 |
A |
T |
8: 45,287,031 |
F75I |
probably damaging |
Het |
Loxl3 |
T |
A |
6: 83,050,583 |
V702E |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,756,686 |
N60I |
possibly damaging |
Het |
Pex5 |
A |
T |
6: 124,398,460 |
N534K |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,693,978 |
L383Q |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,347,385 |
V1168A |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,719,401 |
E285G |
probably damaging |
Het |
Stab1 |
T |
A |
14: 31,150,441 |
N1171I |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,020,577 |
I744V |
probably benign |
Het |
|
Other mutations in Golgb1 |
|
Posted On |
2015-04-16 |