Incidental Mutation 'IGL02524:Rack1'
| ID |
296973 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rack1
|
| Ensembl Gene |
ENSMUSG00000020372 |
| Gene Name |
receptor for activated C kinase 1 |
| Synonyms |
GB-like, p205, Gnb2l1, Gnb2-rs1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
IGL02524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
48691187-48697068 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48694298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 166
(V166A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020640]
[ENSMUST00000047145]
[ENSMUST00000131888]
|
| AlphaFold |
P68040 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020640
AA Change: V166A
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372
AA Change: V166A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
5.55e-7 |
SMART |
|
WD40
|
52 |
91 |
6.48e-8 |
SMART |
|
WD40
|
94 |
133 |
2.95e-11 |
SMART |
|
WD40
|
135 |
178 |
8.55e-8 |
SMART |
|
WD40
|
181 |
220 |
2.42e-7 |
SMART |
|
WD40
|
223 |
260 |
6.34e-2 |
SMART |
|
WD40
|
271 |
311 |
2.4e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047145
|
| SMART Domains |
Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
20 |
186 |
2.91e-6 |
SMART |
|
BBOX
|
222 |
263 |
3.31e-10 |
SMART |
|
coiled coil region
|
281 |
313 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
374 |
N/A |
INTRINSIC |
|
PRY
|
430 |
482 |
2.04e-19 |
SMART |
|
Pfam:SPRY
|
485 |
629 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131888
|
| SMART Domains |
Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3631
|
9 |
124 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136703
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Embryos homozygous for a hypomorphic allele lack early egg cylinders and die at gastrulation. Heterozygotes show a transient growth deficit, a white belly spot and hypopigmented tail and paws, while embryonic fibroblasts show a reduction in PMA- and insulin-stimulated translation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
| Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,501,016 (GRCm39) |
N11S |
probably damaging |
Het |
| Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
| Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
| Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
| Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
| Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,392 (GRCm39) |
L539R |
probably damaging |
Het |
| Mmp8 |
A |
G |
9: 7,560,506 (GRCm39) |
E61G |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
| Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
| Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
| Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
| P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,260,830 (GRCm39) |
|
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,073,232 (GRCm39) |
S30T |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
| Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
| Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
| Syt2 |
A |
G |
1: 134,669,703 (GRCm39) |
K115E |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
| Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
| Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
| Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
probably benign |
Het |
|
| Other mutations in Rack1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02673:Rack1
|
APN |
11 |
48,691,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0630:Rack1
|
UTSW |
11 |
48,694,804 (GRCm39) |
unclassified |
probably benign |
|
|
R1465:Rack1
|
UTSW |
11 |
48,692,586 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1465:Rack1
|
UTSW |
11 |
48,692,586 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3824:Rack1
|
UTSW |
11 |
48,693,131 (GRCm39) |
missense |
probably benign |
|
|
R3825:Rack1
|
UTSW |
11 |
48,693,131 (GRCm39) |
missense |
probably benign |
|
|
R4298:Rack1
|
UTSW |
11 |
48,692,453 (GRCm39) |
unclassified |
probably benign |
|
|
R4885:Rack1
|
UTSW |
11 |
48,696,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Rack1
|
UTSW |
11 |
48,694,322 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6997:Rack1
|
UTSW |
11 |
48,694,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Rack1
|
UTSW |
11 |
48,692,592 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8765:Rack1
|
UTSW |
11 |
48,694,286 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2015-04-16 |
Incidental Mutation