Incidental Mutation 'R7592:Crispld1'
| ID |
587431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crispld1
|
| Ensembl Gene |
ENSMUSG00000025776 |
| Gene Name |
cysteine-rich secretory protein LCCL domain containing 1 |
| Synonyms |
Cocoacrisp |
| MMRRC Submission |
045639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R7592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17798990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 37
(E37V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
[ENSMUST00000160305]
|
| AlphaFold |
Q8CGD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095075
AA Change: E37V
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: E37V
| 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: E37V
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: E37V
| 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: ENSMUST00000160305
AA Change: E37V
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123800
Gene: ENSMUSG00000025776
AA Change: E37V
| Domain | Start | End | E-Value | Type |
|---|
|
SCP
|
60 |
162 |
1.26e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,667,138 (GRCm39) |
T204A |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,327,836 (GRCm39) |
T1415A |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 81,986,459 (GRCm39) |
T24A |
probably benign |
Het |
| Ankrd13b |
A |
C |
11: 77,367,327 (GRCm39) |
V194G |
probably benign |
Het |
| Aurkc |
C |
T |
7: 7,003,006 (GRCm39) |
T167I |
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,064,469 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,152,724 (GRCm39) |
S14P |
possibly damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,298 (GRCm39) |
I40F |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,439,377 (GRCm39) |
C296Y |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,776,861 (GRCm39) |
C505S |
possibly damaging |
Het |
| Col4a3 |
A |
G |
1: 82,626,338 (GRCm39) |
I92V |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,708,689 (GRCm39) |
H645L |
unknown |
Het |
| Csmd2 |
A |
G |
4: 128,357,591 (GRCm39) |
Y1684C |
|
Het |
| Cstdc5 |
A |
T |
16: 36,187,862 (GRCm39) |
M1K |
probably null |
Het |
| Dcst1 |
C |
A |
3: 89,260,599 (GRCm39) |
S555I |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,499,060 (GRCm39) |
S70G |
possibly damaging |
Het |
| Elavl2 |
A |
T |
4: 91,199,808 (GRCm39) |
|
probably null |
Het |
| Emc1 |
A |
G |
4: 139,087,877 (GRCm39) |
H300R |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,083,669 (GRCm39) |
V322I |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,665,584 (GRCm39) |
N51D |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,114,150 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,136,036 (GRCm39) |
E579G |
probably benign |
Het |
| Hoxa4 |
T |
C |
6: 52,168,520 (GRCm39) |
H50R |
unknown |
Het |
| Htr7 |
T |
C |
19: 36,034,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ift43 |
G |
A |
12: 86,207,964 (GRCm39) |
D111N |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,630,722 (GRCm39) |
V863A |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,686 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,095,193 (GRCm39) |
K7E |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,364,436 (GRCm39) |
V371E |
probably damaging |
Het |
| Npr1 |
T |
G |
3: 90,372,323 (GRCm39) |
D163A |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,313,589 (GRCm39) |
I330V |
probably benign |
Het |
| Or2a20 |
T |
G |
6: 43,194,179 (GRCm39) |
C111G |
probably damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,020 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or51l4 |
C |
A |
7: 103,404,279 (GRCm39) |
C171F |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,389,128 (GRCm39) |
M139I |
possibly damaging |
Het |
| Poc1a |
A |
T |
9: 106,226,967 (GRCm39) |
R402S |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,193,437 (GRCm39) |
V470L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,220,469 (GRCm39) |
E93G |
probably damaging |
Het |
| Psma1 |
A |
T |
7: 113,868,961 (GRCm39) |
M180K |
probably benign |
Het |
| Pudp |
A |
T |
18: 50,701,053 (GRCm39) |
F227I |
probably damaging |
Het |
| Rab15 |
T |
A |
12: 76,851,223 (GRCm39) |
Q60L |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,497 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,868,876 (GRCm39) |
S976P |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,540,802 (GRCm39) |
Y219C |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,831,889 (GRCm39) |
I213K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,881,005 (GRCm39) |
D516E |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,614,543 (GRCm39) |
D184G |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,308,619 (GRCm39) |
S263N |
probably benign |
Het |
| Tmem181a |
C |
A |
17: 6,339,295 (GRCm39) |
T68K |
probably benign |
Het |
| Trav21-dv12 |
G |
T |
14: 54,113,997 (GRCm39) |
C39F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,173 (GRCm39) |
E745G |
probably damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,904 (GRCm39) |
F106I |
probably benign |
Het |
| Vmn1r39 |
C |
A |
6: 66,781,428 (GRCm39) |
V297L |
probably benign |
Het |
| Vmn2r101 |
G |
A |
17: 19,811,443 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
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'- TGACATGTCTTATAGCCACAAGG -3'
(R):5'- AGTTTATCTATGCTGCCCTAGG -3'
Sequencing Primer
(F):5'- AGGAGTGGAAGAGCCTGTCTTG -3'
(R):5'- TTCTTTGATATACACCACGTGAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation