Incidental Mutation 'R6961:Crispld1'
| ID |
541736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crispld1
|
| Ensembl Gene |
ENSMUSG00000025776 |
| Gene Name |
cysteine-rich secretory protein LCCL domain containing 1 |
| Synonyms |
Cocoacrisp |
| MMRRC Submission |
045071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17832365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 450
(H450Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
|
| AlphaFold |
Q8CGD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095075
AA Change: H450Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092686
Gene: ENSMUSG00000025776
AA Change: H450Q
| 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: H450Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124095
Gene: ENSMUSG00000025776
AA Change: H450Q
| 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 |
|
| Meta Mutation Damage Score |
0.9333 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,024,148 (GRCm39) |
L168P |
probably damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,255,849 (GRCm39) |
L173P |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,168,835 (GRCm39) |
F23L |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,264,366 (GRCm39) |
Y64F |
probably benign |
Het |
| Cdh23 |
G |
C |
10: 60,485,893 (GRCm39) |
L41V |
probably benign |
Het |
| Cep120 |
C |
A |
18: 53,836,277 (GRCm39) |
E803* |
probably null |
Het |
| Clcn7 |
C |
T |
17: 25,376,188 (GRCm39) |
P560S |
probably damaging |
Het |
| Cldn12 |
A |
T |
5: 5,557,707 (GRCm39) |
V240D |
probably damaging |
Het |
| Clec1a |
C |
T |
6: 129,406,946 (GRCm39) |
E190K |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,838,082 (GRCm39) |
I2721F |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,740 (GRCm39) |
F393S |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,963 (GRCm39) |
I306F |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,153 (GRCm39) |
D655G |
probably benign |
Het |
| Gm29106 |
A |
T |
1: 118,128,128 (GRCm39) |
K607* |
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,104,766 (GRCm39) |
I32F |
possibly damaging |
Het |
| Hmg20a |
T |
C |
9: 56,396,012 (GRCm39) |
V268A |
probably benign |
Het |
| Il2rb |
T |
A |
15: 78,370,024 (GRCm39) |
Y205F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,190,397 (GRCm39) |
*965W |
probably null |
Het |
| Itsn2 |
T |
A |
12: 4,723,420 (GRCm39) |
C1118* |
probably null |
Het |
| Jakmip1 |
T |
C |
5: 37,330,697 (GRCm39) |
L459P |
probably damaging |
Het |
| Klhl8 |
T |
C |
5: 104,018,435 (GRCm39) |
T323A |
possibly damaging |
Het |
| Mindy3 |
C |
A |
2: 12,400,989 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,250,369 (GRCm39) |
T79A |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Napa |
C |
T |
7: 15,843,034 (GRCm39) |
R53* |
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,508 (GRCm39) |
D133E |
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,096 (GRCm39) |
I258F |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,928,149 (GRCm39) |
M41L |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,978,913 (GRCm39) |
I162K |
probably damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,789 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or6c7 |
T |
C |
10: 129,323,331 (GRCm39) |
F151L |
probably damaging |
Het |
| Pate13 |
G |
A |
9: 35,819,740 (GRCm39) |
M1I |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,828,124 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pla2g4e |
G |
T |
2: 120,004,851 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
T |
C |
10: 79,695,111 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
C |
5: 74,680,202 (GRCm39) |
V317G |
possibly damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,714,110 (GRCm39) |
M712V |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,334 (GRCm39) |
L919* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,440,811 (GRCm39) |
S1758T |
probably benign |
Het |
| Tgfb2 |
A |
T |
1: 186,382,032 (GRCm39) |
M165K |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,343,402 (GRCm39) |
V154M |
probably damaging |
Het |
| Timm17a |
A |
G |
1: 135,238,816 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,076 (GRCm39) |
R127* |
probably null |
Het |
| Ttc29 |
A |
C |
8: 79,003,545 (GRCm39) |
I254L |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,174 (GRCm39) |
S1780P |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,646 (GRCm39) |
Y584* |
probably null |
Het |
| Zbtb24 |
A |
G |
10: 41,331,171 (GRCm39) |
E366G |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCGTTACTTCCCAAATACC -3'
(R):5'- AGGGCTCACTCAAAGGAAAC -3'
Sequencing Primer
(F):5'- CCCCTTTATGTGTGGAATATTATGC -3'
(R):5'- GGAAACACATAGTTCAGTCACTTAGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation