Incidental Mutation 'IGL01991:Crispld1'
| ID |
182847 |
| 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: 0.109)
|
| Stock # |
IGL01991
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17823241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 407
(H407Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
|
| AlphaFold |
Q8CGD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095075
AA Change: H407Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: H407Q
| 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: H407Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: H407Q
| 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: ENSMUST00000189853
|
| Meta Mutation Damage Score |
0.0579 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
| Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
| Als2cl |
C |
T |
9: 110,721,985 (GRCm39) |
R584C |
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,914,836 (GRCm39) |
S679T |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
| Creb1 |
T |
C |
1: 64,598,913 (GRCm39) |
F97L |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
| Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
| Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
| Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
| Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
| Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
| Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
| Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,830 (GRCm39) |
I208V |
probably benign |
Het |
| Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
| Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
| Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
| Wscd1 |
A |
T |
11: 71,678,549 (GRCm39) |
K391* |
probably null |
Het |
| Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
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 |
|
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation