Incidental Mutation 'R1391:Cnst'
| ID |
162595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnst
|
| Ensembl Gene |
ENSMUSG00000038949 |
| Gene Name |
consortin, connexin sorting protein |
| Synonyms |
9630058J23Rik |
| MMRRC Submission |
039453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1391 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
179374009-179455043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 179407051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 33
(P33T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040706]
|
| AlphaFold |
Q8CBC4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040706
AA Change: P33T
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048205
Gene: ENSMUSG00000038949
AA Change: P33T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
109 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
566 |
N/A |
INTRINSIC |
|
Pfam:Consortin_C
|
598 |
709 |
3.4e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153962
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer3 |
A |
T |
1: 34,627,470 (GRCm39) |
T570S |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,370,110 (GRCm39) |
K20I |
possibly damaging |
Het |
| Bmp10 |
G |
A |
6: 87,410,740 (GRCm39) |
E178K |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,417,372 (GRCm39) |
H254L |
possibly damaging |
Het |
| Cdon |
C |
T |
9: 35,415,485 (GRCm39) |
S1241L |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,369,331 (GRCm39) |
Y4318C |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,495,378 (GRCm39) |
W611* |
probably null |
Het |
| Fst |
C |
T |
13: 114,590,815 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,814 (GRCm39) |
L714P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,491,758 (GRCm39) |
L3732R |
possibly damaging |
Het |
| Lox |
A |
G |
18: 52,661,891 (GRCm39) |
Y171H |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,374 (GRCm39) |
K1448* |
probably null |
Het |
| Med12l |
T |
A |
3: 58,945,159 (GRCm39) |
I128N |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,781,673 (GRCm39) |
T791A |
possibly damaging |
Het |
| Prrt4 |
A |
G |
6: 29,169,950 (GRCm39) |
V834A |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,001,728 (GRCm39) |
S1273G |
probably benign |
Het |
| Slc13a4 |
A |
C |
6: 35,248,597 (GRCm39) |
F517V |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,596,602 (GRCm39) |
V452A |
probably benign |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,931 (GRCm39) |
M393K |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,984 (GRCm39) |
N134S |
probably benign |
Het |
|
| Other mutations in Cnst |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Cnst
|
APN |
1 |
179,452,557 (GRCm39) |
splice site |
probably benign |
|
|
Doldrums
|
UTSW |
1 |
179,432,638 (GRCm39) |
splice site |
probably null |
|
|
ennui
|
UTSW |
1 |
179,434,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0360:Cnst
|
UTSW |
1 |
179,407,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1743:Cnst
|
UTSW |
1 |
179,437,957 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1909:Cnst
|
UTSW |
1 |
179,450,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Cnst
|
UTSW |
1 |
179,407,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4565:Cnst
|
UTSW |
1 |
179,432,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Cnst
|
UTSW |
1 |
179,432,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5072:Cnst
|
UTSW |
1 |
179,450,451 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5087:Cnst
|
UTSW |
1 |
179,450,378 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5294:Cnst
|
UTSW |
1 |
179,438,005 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5349:Cnst
|
UTSW |
1 |
179,450,462 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5394:Cnst
|
UTSW |
1 |
179,429,301 (GRCm39) |
splice site |
probably benign |
|
|
R6020:Cnst
|
UTSW |
1 |
179,437,440 (GRCm39) |
missense |
probably benign |
|
|
R6198:Cnst
|
UTSW |
1 |
179,420,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Cnst
|
UTSW |
1 |
179,432,638 (GRCm39) |
splice site |
probably null |
|
|
R6767:Cnst
|
UTSW |
1 |
179,437,519 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7007:Cnst
|
UTSW |
1 |
179,438,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Cnst
|
UTSW |
1 |
179,406,947 (GRCm39) |
start gained |
probably benign |
|
|
R7356:Cnst
|
UTSW |
1 |
179,434,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7730:Cnst
|
UTSW |
1 |
179,452,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7900:Cnst
|
UTSW |
1 |
179,450,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Cnst
|
UTSW |
1 |
179,434,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8194:Cnst
|
UTSW |
1 |
179,437,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Cnst
|
UTSW |
1 |
179,420,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8857:Cnst
|
UTSW |
1 |
179,437,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Cnst
|
UTSW |
1 |
179,437,587 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9062:Cnst
|
UTSW |
1 |
179,434,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9106:Cnst
|
UTSW |
1 |
179,432,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9190:Cnst
|
UTSW |
1 |
179,407,039 (GRCm39) |
small deletion |
probably benign |
|
|
R9287:Cnst
|
UTSW |
1 |
179,407,108 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9429:Cnst
|
UTSW |
1 |
179,432,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cnst
|
UTSW |
1 |
179,407,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAACTCCAGCGAAGTGGAACG -3'
(R):5'- TTTGGTCCTGTCCCAAGGAAGGTG -3'
Sequencing Primer
(F):5'- TGAAGTAGCCGTAACTAAGTCC -3'
(R):5'- GTCATCTTTGGGACCTTCGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation