Incidental Mutation 'R1630:Crispld1'
ID |
172708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crispld1
|
Ensembl Gene |
ENSMUSG00000025776 |
Gene Name |
cysteine-rich secretory protein LCCL domain containing 1 |
Synonyms |
Cocoacrisp |
MMRRC Submission |
039667-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R1630 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
17797269-17836568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17799022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 48
(T48A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095075]
[ENSMUST00000159958]
[ENSMUST00000160305]
|
AlphaFold |
Q8CGD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095075
AA Change: T48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092686 Gene: ENSMUSG00000025776 AA Change: T48A
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: ENSMUST00000127328
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149914
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155588
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159958
AA Change: T48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124095 Gene: ENSMUSG00000025776 AA Change: T48A
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
AA Change: T48A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123800 Gene: ENSMUSG00000025776 AA Change: T48A
Domain | Start | End | E-Value | Type |
SCP
|
60 |
162 |
1.26e-8 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429P17Rik |
C |
A |
13: 48,114,201 (GRCm39) |
|
noncoding transcript |
Het |
9930012K11Rik |
T |
C |
14: 70,394,629 (GRCm39) |
E175G |
probably benign |
Het |
A630091E08Rik |
A |
G |
7: 98,192,814 (GRCm39) |
|
noncoding transcript |
Het |
Atm |
A |
T |
9: 53,390,973 (GRCm39) |
L1867Q |
probably damaging |
Het |
Atp5f1a |
A |
G |
18: 77,865,267 (GRCm39) |
D63G |
possibly damaging |
Het |
Baz2b |
A |
T |
2: 59,836,474 (GRCm39) |
S20T |
unknown |
Het |
C1qtnf7 |
G |
A |
5: 43,766,503 (GRCm39) |
C34Y |
possibly damaging |
Het |
Cactin |
A |
G |
10: 81,159,559 (GRCm39) |
T353A |
probably benign |
Het |
Cdyl |
A |
G |
13: 35,867,786 (GRCm39) |
K21E |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,701,918 (GRCm39) |
T1722S |
possibly damaging |
Het |
Dapk1 |
A |
T |
13: 60,877,345 (GRCm39) |
E528V |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
Dnajc5b |
C |
A |
3: 19,628,905 (GRCm39) |
N66K |
probably damaging |
Het |
Dusp16 |
G |
T |
6: 134,697,524 (GRCm39) |
R250S |
probably damaging |
Het |
F10 |
A |
G |
8: 13,105,551 (GRCm39) |
N384S |
probably benign |
Het |
Gabrr2 |
A |
G |
4: 33,085,647 (GRCm39) |
S331G |
probably damaging |
Het |
Gm12185 |
A |
C |
11: 48,798,717 (GRCm39) |
I592S |
probably benign |
Het |
Gm9755 |
T |
C |
8: 67,967,312 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
C |
4: 137,245,746 (GRCm39) |
L913P |
probably damaging |
Het |
Ifna1 |
T |
A |
4: 88,768,566 (GRCm39) |
S81R |
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,826,293 (GRCm39) |
K510E |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,992,913 (GRCm39) |
Y140H |
probably damaging |
Het |
Lix1 |
A |
G |
17: 17,677,420 (GRCm39) |
H205R |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,490 (GRCm39) |
T524S |
probably benign |
Het |
Mndal |
A |
C |
1: 173,701,958 (GRCm39) |
F115V |
possibly damaging |
Het |
Morc3 |
C |
A |
16: 93,663,421 (GRCm39) |
N541K |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
Nes |
T |
A |
3: 87,884,984 (GRCm39) |
V1037E |
probably benign |
Het |
Nfkbil1 |
A |
G |
17: 35,440,140 (GRCm39) |
W178R |
probably damaging |
Het |
Nobox |
A |
T |
6: 43,284,146 (GRCm39) |
C8* |
probably null |
Het |
Nwd1 |
A |
G |
8: 73,393,657 (GRCm39) |
T348A |
possibly damaging |
Het |
Or1e23 |
T |
C |
11: 73,407,546 (GRCm39) |
T160A |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,673 (GRCm39) |
S228P |
probably damaging |
Het |
Or8k17 |
A |
G |
2: 86,066,430 (GRCm39) |
S243P |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,167 (GRCm39) |
T448A |
probably benign |
Het |
Plrg1 |
A |
G |
3: 82,966,070 (GRCm39) |
D75G |
probably benign |
Het |
Ppp1r8 |
T |
C |
4: 132,556,748 (GRCm39) |
E213G |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,580,828 (GRCm39) |
F898L |
possibly damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl10a |
G |
C |
11: 5,009,542 (GRCm39) |
R110P |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,061,078 (GRCm39) |
I1082T |
probably benign |
Het |
Sema6d |
A |
G |
2: 124,506,265 (GRCm39) |
D734G |
possibly damaging |
Het |
Sgce |
C |
T |
6: 4,719,476 (GRCm39) |
V44M |
probably damaging |
Het |
Sgo2b |
A |
G |
8: 64,380,831 (GRCm39) |
V667A |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,763 (GRCm39) |
C118* |
probably null |
Het |
Slain2 |
C |
T |
5: 73,133,347 (GRCm39) |
P563S |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,602,547 (GRCm39) |
I167F |
probably damaging |
Het |
Speg |
T |
C |
1: 75,399,621 (GRCm39) |
L2356P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,118,164 (GRCm39) |
V305A |
probably benign |
Het |
Sspo |
G |
A |
6: 48,434,658 (GRCm39) |
R1050H |
probably benign |
Het |
Tmem106b |
A |
G |
6: 13,081,540 (GRCm39) |
N149S |
probably benign |
Het |
Tmem200a |
T |
C |
10: 25,868,812 (GRCm39) |
T486A |
probably damaging |
Het |
Tmem212 |
T |
A |
3: 27,939,250 (GRCm39) |
T79S |
possibly damaging |
Het |
Ttll11 |
A |
G |
2: 35,779,337 (GRCm39) |
V471A |
probably damaging |
Het |
Vill |
A |
G |
9: 118,899,769 (GRCm39) |
N318D |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,899,032 (GRCm39) |
D458G |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,196,952 (GRCm39) |
C342* |
probably null |
Het |
Zfp963 |
A |
T |
8: 70,196,837 (GRCm39) |
|
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGGGAAACCCAGAGGCCATTCA -3'
(R):5'- AGGTCCTAAGAGGCCCTAGAGCA -3'
Sequencing Primer
(F):5'- ACCCAGAGGCCATTCATTATG -3'
(R):5'- CTGTTGGGTACACCTGACTT -3'
|
Posted On |
2014-04-24 |