Incidental Mutation 'R3926:Cluap1'
ID |
308304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cluap1
|
Ensembl Gene |
ENSMUSG00000014232 |
Gene Name |
clusterin associated protein 1 |
Synonyms |
2310030D15Rik, 2610111M03Rik |
MMRRC Submission |
040821-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
3726665-3759011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3729398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 141
(S141T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006139]
[ENSMUST00000040881]
[ENSMUST00000115859]
[ENSMUST00000123235]
[ENSMUST00000124849]
[ENSMUST00000139294]
[ENSMUST00000145150]
[ENSMUST00000176233]
[ENSMUST00000177323]
[ENSMUST00000177221]
|
AlphaFold |
Q8R3P7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006139
|
SMART Domains |
Protein: ENSMUSP00000006139 Gene: ENSMUSG00000005983
Domain | Start | End | E-Value | Type |
Pfam:DUF4644
|
16 |
139 |
7.3e-70 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040881
AA Change: S36T
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043397 Gene: ENSMUSG00000014232 AA Change: S36T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115859
|
SMART Domains |
Protein: ENSMUSP00000111525 Gene: ENSMUSG00000005983
Domain | Start | End | E-Value | Type |
Pfam:DUF4644
|
2 |
162 |
4.7e-89 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123235
|
SMART Domains |
Protein: ENSMUSP00000135233 Gene: ENSMUSG00000005983
Domain | Start | End | E-Value | Type |
Pfam:DUF4644
|
7 |
67 |
1.5e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124849
AA Change: S25T
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000119490 Gene: ENSMUSG00000014232 AA Change: S25T
Domain | Start | End | E-Value | Type |
Pfam:Cluap1
|
3 |
206 |
8.7e-93 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137745
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139294
AA Change: L85H
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145150
AA Change: S25T
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116855 Gene: ENSMUSG00000014232 AA Change: S25T
Domain | Start | End | E-Value | Type |
Pfam:Cluap1
|
3 |
188 |
9.9e-86 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146935
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176233
AA Change: S141T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135826 Gene: ENSMUSG00000093575 AA Change: S141T
Domain | Start | End | E-Value | Type |
Pfam:Cluap1
|
119 |
282 |
2.8e-76 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195807
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177519
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177323
|
SMART Domains |
Protein: ENSMUSP00000135766 Gene: ENSMUSG00000005983
Domain | Start | End | E-Value | Type |
Pfam:DUF4644
|
6 |
166 |
1.5e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177221
|
SMART Domains |
Protein: ENSMUSP00000134800 Gene: ENSMUSG00000005983
Domain | Start | End | E-Value | Type |
Pfam:DUF4644
|
13 |
144 |
7.2e-75 |
PFAM |
|
Meta Mutation Damage Score |
0.8274 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (55/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
Asb14 |
T |
C |
14: 26,619,695 (GRCm39) |
I48T |
possibly damaging |
Het |
Astn1 |
A |
T |
1: 158,407,227 (GRCm39) |
I559F |
possibly damaging |
Het |
Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
Bco1 |
T |
C |
8: 117,854,211 (GRCm39) |
S379P |
probably benign |
Het |
Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
Bst1 |
T |
C |
5: 43,997,796 (GRCm39) |
V265A |
possibly damaging |
Het |
Car11 |
T |
C |
7: 45,349,915 (GRCm39) |
F45L |
probably benign |
Het |
Cdkl2 |
T |
C |
5: 92,180,998 (GRCm39) |
I214V |
possibly damaging |
Het |
Col11a1 |
C |
T |
3: 113,883,773 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Corin |
T |
G |
5: 72,529,473 (GRCm39) |
D294A |
probably damaging |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Ddx41 |
A |
G |
13: 55,679,083 (GRCm39) |
L559P |
probably damaging |
Het |
Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
Dennd1b |
A |
G |
1: 139,071,697 (GRCm39) |
N397D |
probably benign |
Het |
Evc2 |
T |
A |
5: 37,540,574 (GRCm39) |
L590Q |
probably damaging |
Het |
Fhl5 |
A |
T |
4: 25,214,790 (GRCm39) |
|
probably benign |
Het |
Flg2 |
A |
G |
3: 93,110,522 (GRCm39) |
Y850C |
unknown |
Het |
Gal3st2b |
G |
T |
1: 93,868,512 (GRCm39) |
V246L |
probably benign |
Het |
Jam3 |
A |
T |
9: 27,017,701 (GRCm39) |
I29K |
possibly damaging |
Het |
Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
Lims2 |
A |
G |
18: 32,090,996 (GRCm39) |
S327G |
probably benign |
Het |
Lynx1 |
A |
G |
15: 74,623,205 (GRCm39) |
Y76H |
probably damaging |
Het |
Mycbp2 |
G |
A |
14: 103,441,936 (GRCm39) |
P1943L |
probably damaging |
Het |
Myo3a |
A |
G |
2: 22,455,053 (GRCm39) |
D86G |
probably damaging |
Het |
Nkx3-2 |
T |
A |
5: 41,919,223 (GRCm39) |
Q255L |
probably damaging |
Het |
Notch3 |
C |
T |
17: 32,372,531 (GRCm39) |
R641H |
possibly damaging |
Het |
Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
Ogfod3 |
T |
C |
11: 121,074,255 (GRCm39) |
T265A |
probably damaging |
Het |
Pcdh9 |
G |
T |
14: 94,124,246 (GRCm39) |
Y641* |
probably null |
Het |
Pcdha9 |
T |
A |
18: 37,132,465 (GRCm39) |
D511E |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,895,443 (GRCm39) |
Y171C |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,005,505 (GRCm39) |
C1075R |
probably damaging |
Het |
Pik3c3 |
C |
A |
18: 30,444,382 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,621,097 (GRCm39) |
T854A |
probably benign |
Het |
Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
Rhof |
T |
C |
5: 123,242,593 (GRCm39) |
|
probably null |
Het |
Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
Serpina3f |
T |
C |
12: 104,185,740 (GRCm39) |
I315T |
possibly damaging |
Het |
Slc1a6 |
T |
A |
10: 78,648,715 (GRCm39) |
S479T |
possibly damaging |
Het |
Tmcc1 |
T |
C |
6: 116,019,874 (GRCm39) |
D166G |
probably damaging |
Het |
Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,954,438 (GRCm39) |
D1038G |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,644,397 (GRCm39) |
R609G |
probably damaging |
Het |
Zfp729a |
T |
A |
13: 67,768,310 (GRCm39) |
K640* |
probably null |
Het |
Zfp986 |
A |
T |
4: 145,619,090 (GRCm39) |
|
probably benign |
Het |
Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
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 |
|
R8459:Cluap1
|
UTSW |
16 |
3,755,453 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AATCTACTATCGTTGAACTTGGGTG -3'
(R):5'- GTGCGTGGCAGCTCTTTATAAG -3'
Sequencing Primer
(F):5'- ATGAATTCAGCACCTGGAGTTG -3'
(R):5'- CGTGGCAGCTCTTTATAAGTTACAGC -3'
|
Posted On |
2015-04-17 |