Incidental Mutation 'R4527:Gorab'
| ID |
334468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gorab
|
| Ensembl Gene |
ENSMUSG00000040124 |
| Gene Name |
golgin, RAB6-interacting |
| Synonyms |
NTKL-BP1, Scyl1bp1 |
| MMRRC Submission |
041768-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
R4527 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163212477-163231238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 163224705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 32
(K32T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045138]
[ENSMUST00000186402]
|
| AlphaFold |
Q8BRM2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045138
AA Change: K32T
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: K32T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transcrip_act
|
128 |
276 |
9.3e-11 |
PFAM |
|
low complexity region
|
277 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185299
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186402
AA Change: K32T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0632 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
G |
5: 137,682,798 (GRCm39) |
V15A |
unknown |
Het |
| Asb3 |
A |
G |
11: 31,008,933 (GRCm39) |
D278G |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,815,424 (GRCm39) |
I780T |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,963,065 (GRCm39) |
P200L |
probably damaging |
Het |
| Cars1 |
A |
T |
7: 143,118,786 (GRCm39) |
M668K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,109,838 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,572,091 (GRCm39) |
E855K |
probably benign |
Het |
| Espn |
C |
T |
4: 152,220,106 (GRCm39) |
R339Q |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,293,163 (GRCm39) |
E481V |
probably benign |
Het |
| Mak16 |
G |
A |
8: 31,656,205 (GRCm39) |
Q93* |
probably null |
Het |
| Muc4 |
T |
C |
16: 32,576,217 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,083,249 (GRCm39) |
I5409N |
probably benign |
Het |
| Olfm4 |
C |
T |
14: 80,258,664 (GRCm39) |
S304F |
probably benign |
Het |
| Pask |
A |
G |
1: 93,248,224 (GRCm39) |
F1026L |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,632,850 (GRCm39) |
S19P |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,255,631 (GRCm39) |
D541G |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,398,210 (GRCm39) |
S108G |
probably damaging |
Het |
| Rps4l-ps |
C |
T |
7: 114,526,403 (GRCm39) |
|
noncoding transcript |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,362,627 (GRCm39) |
Y64C |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,445,066 (GRCm39) |
I4S |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,647 (GRCm39) |
N935S |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,499 (GRCm39) |
V525A |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,122,763 (GRCm39) |
D4V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,371,257 (GRCm39) |
L53Q |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,351,659 (GRCm39) |
N76K |
probably damaging |
Het |
| Zscan25 |
T |
C |
5: 145,220,268 (GRCm39) |
V21A |
probably damaging |
Het |
|
| Other mutations in Gorab |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Gorab
|
APN |
1 |
163,222,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00915:Gorab
|
APN |
1 |
163,224,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01645:Gorab
|
APN |
1 |
163,214,000 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0387:Gorab
|
UTSW |
1 |
163,224,403 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0504:Gorab
|
UTSW |
1 |
163,214,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Gorab
|
UTSW |
1 |
163,224,738 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1863:Gorab
|
UTSW |
1 |
163,231,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Gorab
|
UTSW |
1 |
163,224,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1992:Gorab
|
UTSW |
1 |
163,224,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2844:Gorab
|
UTSW |
1 |
163,224,375 (GRCm39) |
splice site |
probably null |
|
|
R4039:Gorab
|
UTSW |
1 |
163,224,635 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4864:Gorab
|
UTSW |
1 |
163,213,967 (GRCm39) |
missense |
probably benign |
|
|
R5175:Gorab
|
UTSW |
1 |
163,214,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Gorab
|
UTSW |
1 |
163,220,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Gorab
|
UTSW |
1 |
163,213,871 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6265:Gorab
|
UTSW |
1 |
163,214,199 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6314:Gorab
|
UTSW |
1 |
163,224,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6355:Gorab
|
UTSW |
1 |
163,214,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Gorab
|
UTSW |
1 |
163,220,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:Gorab
|
UTSW |
1 |
163,224,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Gorab
|
UTSW |
1 |
163,231,119 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Gorab
|
UTSW |
1 |
163,213,892 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCAGGTAGCTTTCCATCG -3'
(R):5'- AGGAAAATGGCTGACTTTTCCTG -3'
Sequencing Primer
(F):5'- TAGCTTTCCATCGCCAGAGGAAG -3'
(R):5'- ACTTTTCCTGGGCTTTCAAGATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation