Incidental Mutation 'R6252:Crispld1'
ID |
506260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crispld1
|
Ensembl Gene |
ENSMUSG00000025776 |
Gene Name |
cysteine-rich secretory protein LCCL domain containing 1 |
Synonyms |
Cocoacrisp |
MMRRC Submission |
044369-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R6252 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17819731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 243
(E243G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
[ENSMUST00000160305]
|
AlphaFold |
Q8CGD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095075
AA Change: E243G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000092686 Gene: ENSMUSG00000025776 AA Change: E243G
Domain | Start | End | E-Value | Type |
SCP
|
60 |
214 |
1.63e-41 |
SMART |
LCCL
|
291 |
375 |
1.6e-52 |
SMART |
LCCL
|
392 |
483 |
1.55e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159958
AA Change: E243G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124095 Gene: ENSMUSG00000025776 AA Change: E243G
Domain | Start | End | E-Value | Type |
SCP
|
60 |
214 |
1.63e-41 |
SMART |
LCCL
|
291 |
375 |
1.6e-52 |
SMART |
LCCL
|
392 |
483 |
1.55e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160305
|
SMART Domains |
Protein: ENSMUSP00000123800 Gene: ENSMUSG00000025776
Domain | Start | End | E-Value | Type |
SCP
|
60 |
162 |
1.26e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189853
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
probably benign |
Het |
|
Other mutations in Crispld1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Crispld1
|
APN |
1 |
17,817,025 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01610:Crispld1
|
APN |
1 |
17,816,949 (GRCm39) |
splice site |
probably null |
|
IGL01991:Crispld1
|
APN |
1 |
17,823,241 (GRCm39) |
missense |
probably benign |
|
IGL02004:Crispld1
|
APN |
1 |
17,817,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02178:Crispld1
|
APN |
1 |
17,832,327 (GRCm39) |
splice site |
probably benign |
|
IGL02200:Crispld1
|
APN |
1 |
17,820,557 (GRCm39) |
unclassified |
probably benign |
|
IGL02251:Crispld1
|
APN |
1 |
17,799,064 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02506:Crispld1
|
APN |
1 |
17,826,529 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02883:Crispld1
|
APN |
1 |
17,817,013 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03310:Crispld1
|
APN |
1 |
17,815,701 (GRCm39) |
splice site |
probably benign |
|
milliliter
|
UTSW |
1 |
17,821,025 (GRCm39) |
missense |
possibly damaging |
0.81 |
Spoonful
|
UTSW |
1 |
17,832,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Crispld1
|
UTSW |
1 |
17,823,212 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0324:Crispld1
|
UTSW |
1 |
17,819,815 (GRCm39) |
missense |
probably benign |
|
R0542:Crispld1
|
UTSW |
1 |
17,816,992 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1117:Crispld1
|
UTSW |
1 |
17,819,846 (GRCm39) |
missense |
probably benign |
0.03 |
R1157:Crispld1
|
UTSW |
1 |
17,815,587 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1585:Crispld1
|
UTSW |
1 |
17,821,024 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1630:Crispld1
|
UTSW |
1 |
17,799,022 (GRCm39) |
missense |
probably benign |
|
R2081:Crispld1
|
UTSW |
1 |
17,832,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R2143:Crispld1
|
UTSW |
1 |
17,819,860 (GRCm39) |
missense |
probably benign |
|
R2472:Crispld1
|
UTSW |
1 |
17,816,052 (GRCm39) |
missense |
probably null |
0.12 |
R2520:Crispld1
|
UTSW |
1 |
17,821,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R4476:Crispld1
|
UTSW |
1 |
17,817,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R4486:Crispld1
|
UTSW |
1 |
17,823,102 (GRCm39) |
missense |
probably benign |
0.01 |
R4779:Crispld1
|
UTSW |
1 |
17,819,831 (GRCm39) |
missense |
probably benign |
|
R5508:Crispld1
|
UTSW |
1 |
17,823,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Crispld1
|
UTSW |
1 |
17,820,495 (GRCm39) |
missense |
probably benign |
0.01 |
R6155:Crispld1
|
UTSW |
1 |
17,823,241 (GRCm39) |
missense |
probably benign |
|
R6361:Crispld1
|
UTSW |
1 |
17,832,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R6617:Crispld1
|
UTSW |
1 |
17,798,886 (GRCm39) |
missense |
probably benign |
0.02 |
R6760:Crispld1
|
UTSW |
1 |
17,821,025 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6961:Crispld1
|
UTSW |
1 |
17,832,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Crispld1
|
UTSW |
1 |
17,823,102 (GRCm39) |
missense |
probably benign |
0.01 |
R7403:Crispld1
|
UTSW |
1 |
17,817,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R7592:Crispld1
|
UTSW |
1 |
17,798,990 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7837:Crispld1
|
UTSW |
1 |
17,798,954 (GRCm39) |
missense |
probably benign |
0.42 |
R8906:Crispld1
|
UTSW |
1 |
17,820,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9331:Crispld1
|
UTSW |
1 |
17,832,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R9477:Crispld1
|
UTSW |
1 |
17,816,956 (GRCm39) |
missense |
probably benign |
0.44 |
Z1088:Crispld1
|
UTSW |
1 |
17,834,300 (GRCm39) |
missense |
probably benign |
|
Z1176:Crispld1
|
UTSW |
1 |
17,823,075 (GRCm39) |
missense |
possibly damaging |
0.60 |
Z1176:Crispld1
|
UTSW |
1 |
17,798,837 (GRCm39) |
start gained |
probably benign |
|
Z1177:Crispld1
|
UTSW |
1 |
17,834,316 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCACTGGACATTAGCAAGG -3'
(R):5'- CCATGCAAAGTCTAAGCATCTGATATG -3'
Sequencing Primer
(F):5'- CACACACAGATTGAAGGCTG -3'
(R):5'- GTCATTAAGCTCTTACACATCTGCTG -3'
|
Posted On |
2018-03-15 |