Incidental Mutation 'IGL02883:Crispld1'
| ID |
362885 |
| 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 # |
IGL02883
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17817013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 190
(N190S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
[ENSMUST00000160305]
|
| AlphaFold |
Q8CGD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095075
AA Change: N190S
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: N190S
| 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 |
possibly damaging
Transcript: ENSMUST00000159958
AA Change: N190S
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: N190S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
| Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,905,797 (GRCm39) |
V44A |
probably benign |
Het |
| Crtc1 |
C |
T |
8: 70,858,775 (GRCm39) |
G112S |
probably benign |
Het |
| Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,577,011 (GRCm39) |
S156P |
probably benign |
Het |
| Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
| Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
| Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
| Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
| Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,418 (GRCm39) |
T229A |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,895,430 (GRCm39) |
V344A |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,129,192 (GRCm39) |
W718R |
probably damaging |
Het |
| Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
| Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
| Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
| Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
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 |
|
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 |
2015-12-18 |
Incidental Mutation