Incidental Mutation 'R8459:Cluap1'
| ID |
655194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cluap1
|
| Ensembl Gene |
ENSMUSG00000014232 |
| Gene Name |
clusterin associated protein 1 |
| Synonyms |
2310030D15Rik, 2610111M03Rik |
| MMRRC Submission |
067836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8459 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3726665-3759011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3755453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 356
(M356T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040881]
|
| AlphaFold |
Q8R3P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040881
AA Change: M356T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043397
Gene: ENSMUSG00000014232
AA Change: M356T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cluap1
|
14 |
283 |
2.5e-121 |
PFAM |
|
low complexity region
|
297 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
388 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutant mice exhibit mid-gestation lethality, failure of embryonic turning, enlarged pericardial sacs, neural tube defects and lack primary cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
CTTGTTGT |
CTTGT |
1: 173,289,536 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,605,528 (GRCm39) |
V1132A |
probably damaging |
Het |
| Bpifb9a |
T |
G |
2: 154,102,153 (GRCm39) |
S83R |
probably damaging |
Het |
| Cacnb3 |
C |
T |
15: 98,537,393 (GRCm39) |
R24C |
probably damaging |
Het |
| Car8 |
C |
T |
4: 8,189,302 (GRCm39) |
V171I |
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,238,271 (GRCm39) |
H294L |
probably benign |
Het |
| Cdk17 |
G |
C |
10: 93,068,289 (GRCm39) |
V349L |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,829 (GRCm39) |
E1104G |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,515,597 (GRCm39) |
D108G |
probably benign |
Het |
| Cmtm1 |
A |
G |
8: 105,036,143 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cryge |
T |
C |
1: 65,087,841 (GRCm39) |
D156G |
possibly damaging |
Het |
| Disc1 |
A |
C |
8: 125,891,894 (GRCm39) |
D649A |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,221 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
C |
A |
2: 25,242,550 (GRCm39) |
V468F |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,821,379 (GRCm39) |
V1207A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,757 (GRCm39) |
F1163S |
unknown |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,810,022 (GRCm39) |
Y2114N |
possibly damaging |
Het |
| Gnas |
A |
T |
2: 174,126,732 (GRCm39) |
H89L |
probably benign |
Het |
| Gstt1 |
G |
A |
10: 75,629,943 (GRCm39) |
R107W |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,352,177 (GRCm39) |
D656G |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,828,569 (GRCm39) |
|
probably benign |
Het |
| Ighv1-64 |
G |
A |
12: 115,471,256 (GRCm39) |
A87V |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,959,633 (GRCm39) |
V80A |
probably benign |
Het |
| Lrrc58 |
A |
G |
16: 37,698,872 (GRCm39) |
N280D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,374,107 (GRCm39) |
E1501G |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,992,871 (GRCm39) |
I1016T |
probably benign |
Het |
| Mbnl1 |
T |
G |
3: 60,529,628 (GRCm39) |
S260R |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,348 (GRCm39) |
Q100L |
probably damaging |
Het |
| Phip |
G |
T |
9: 82,758,106 (GRCm39) |
A1529D |
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,830,742 (GRCm39) |
D80G |
probably damaging |
Het |
| Prorsd1 |
T |
C |
11: 29,463,286 (GRCm39) |
T159A |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,878,933 (GRCm39) |
R67L |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,703,481 (GRCm39) |
L518* |
probably null |
Het |
| Slc26a11 |
T |
A |
11: 119,259,643 (GRCm39) |
I280N |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,676 (GRCm39) |
T66A |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,374,277 (GRCm39) |
R177* |
probably null |
Het |
| Vmn1r16 |
A |
C |
6: 57,300,347 (GRCm39) |
C92G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,235 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cluap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0304:Cluap1
|
UTSW |
16 |
3,747,782 (GRCm39) |
unclassified |
probably benign |
|
|
R0545:Cluap1
|
UTSW |
16 |
3,751,636 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1459:Cluap1
|
UTSW |
16 |
3,755,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Cluap1
|
UTSW |
16 |
3,737,422 (GRCm39) |
missense |
probably benign |
|
|
R2136:Cluap1
|
UTSW |
16 |
3,751,636 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3027:Cluap1
|
UTSW |
16 |
3,729,396 (GRCm39) |
nonsense |
probably null |
|
|
R3926:Cluap1
|
UTSW |
16 |
3,729,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4386:Cluap1
|
UTSW |
16 |
3,751,586 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4587:Cluap1
|
UTSW |
16 |
3,751,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5587:Cluap1
|
UTSW |
16 |
3,733,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Cluap1
|
UTSW |
16 |
3,755,437 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6169:Cluap1
|
UTSW |
16 |
3,746,425 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6181:Cluap1
|
UTSW |
16 |
3,751,608 (GRCm39) |
missense |
probably benign |
|
|
R6194:Cluap1
|
UTSW |
16 |
3,747,770 (GRCm39) |
missense |
probably benign |
|
|
R6492:Cluap1
|
UTSW |
16 |
3,746,476 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7091:Cluap1
|
UTSW |
16 |
3,758,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Cluap1
|
UTSW |
16 |
3,758,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7248:Cluap1
|
UTSW |
16 |
3,737,364 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7421:Cluap1
|
UTSW |
16 |
3,758,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7719:Cluap1
|
UTSW |
16 |
3,727,467 (GRCm39) |
splice site |
probably null |
|
|
R7991:Cluap1
|
UTSW |
16 |
3,746,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8280:Cluap1
|
UTSW |
16 |
3,729,017 (GRCm39) |
unclassified |
probably benign |
|
|
R8790:Cluap1
|
UTSW |
16 |
3,735,787 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8964:Cluap1
|
UTSW |
16 |
3,729,334 (GRCm39) |
unclassified |
probably benign |
|
|
R9491:Cluap1
|
UTSW |
16 |
3,758,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGAACGTGACTACTGTTTG -3'
(R):5'- GCTTGCATCTTTGGAAAGTGAG -3'
Sequencing Primer
(F):5'- ACTACTGTTTGTTGGAGCTCAC -3'
(R):5'- TGTGTGTAACAAGAAACAAGCTCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation