Incidental Mutation 'IGL02004:Crispld1'
| ID |
182209 |
| 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 # |
IGL02004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17817744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 216
(A216T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
[ENSMUST00000160305]
|
| AlphaFold |
Q8CGD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095075
AA Change: A216T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: A216T
| 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 damaging
Transcript: ENSMUST00000159958
AA Change: A216T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: A216T
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
| Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
| Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
A |
8: 67,943,878 (GRCm39) |
E85K |
probably benign |
Het |
| Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
| Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
| Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
| St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
| Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
| Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
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 |
|
|
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