Incidental Mutation 'IGL02251:Crispld1'
| ID |
286394 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crispld1
|
| Ensembl Gene |
ENSMUSG00000025776 |
| Gene Name |
cysteine-rich secretory protein LCCL domain containing 1 |
| Synonyms |
Cocoacrisp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17799064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 62
(M62V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
[ENSMUST00000160305]
|
| AlphaFold |
Q8CGD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095075
AA Change: M62V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: M62V
| 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 |
noncoding transcript
Transcript: ENSMUST00000127328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159958
AA Change: M62V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: M62V
| 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
AA Change: M62V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776
AA Change: M62V
| Domain | Start | End | E-Value | Type |
|---|
|
SCP
|
60 |
162 |
1.26e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or4k40 |
A |
C |
2: 111,250,657 (GRCm39) |
L213R |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
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 |
|
|
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 |
|
|
R6252:Crispld1
|
UTSW |
1 |
17,819,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation