Incidental Mutation 'R2904:Crisp1'
ID |
261600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crisp1
|
Ensembl Gene |
ENSMUSG00000025431 |
Gene Name |
cysteine-rich secretory protein 1 |
Synonyms |
Aeg1, CRISP-1 |
MMRRC Submission |
040491-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
40604649-40630098 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 40623895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026498]
[ENSMUST00000026498]
[ENSMUST00000026498]
|
AlphaFold |
Q03401 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026498
|
SMART Domains |
Protein: ENSMUSP00000026498 Gene: ENSMUSG00000025431
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SCP
|
37 |
178 |
1.89e-55 |
SMART |
Pfam:Crisp
|
190 |
244 |
4.4e-22 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000026498
|
SMART Domains |
Protein: ENSMUSP00000026498 Gene: ENSMUSG00000025431
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SCP
|
37 |
178 |
1.89e-55 |
SMART |
Pfam:Crisp
|
190 |
244 |
4.4e-22 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000026498
|
SMART Domains |
Protein: ENSMUSP00000026498 Gene: ENSMUSG00000025431
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SCP
|
37 |
178 |
1.89e-55 |
SMART |
Pfam:Crisp
|
190 |
244 |
4.4e-22 |
PFAM |
|
Meta Mutation Damage Score |
0.8644 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (30/31) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced ability of sperm to fertilize eggs but no reduction in fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
T |
C |
5: 100,957,673 (GRCm39) |
E182G |
probably benign |
Het |
Acot4 |
C |
G |
12: 84,090,377 (GRCm39) |
T358S |
probably benign |
Het |
Ap2a2 |
A |
G |
7: 141,199,391 (GRCm39) |
K433E |
probably damaging |
Het |
Card11 |
T |
A |
5: 140,874,888 (GRCm39) |
D592V |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
Gak |
T |
C |
5: 108,772,080 (GRCm39) |
N79S |
possibly damaging |
Het |
Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
Gmpr2 |
T |
C |
14: 55,910,215 (GRCm39) |
V15A |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,430,787 (GRCm39) |
|
probably benign |
Het |
Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kdm4b |
G |
A |
17: 56,662,884 (GRCm39) |
G152S |
probably benign |
Het |
Kdm6b |
G |
A |
11: 69,296,611 (GRCm39) |
T552I |
possibly damaging |
Het |
Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
Kif11 |
T |
C |
19: 37,392,103 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Madd |
C |
T |
2: 91,006,017 (GRCm39) |
V20M |
probably damaging |
Het |
Mkrn3 |
C |
A |
7: 62,068,207 (GRCm39) |
R528L |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,148,348 (GRCm39) |
V508A |
probably benign |
Het |
Nav1 |
T |
C |
1: 135,512,976 (GRCm39) |
D28G |
probably benign |
Het |
Nlrp4b |
T |
A |
7: 10,448,294 (GRCm39) |
W166R |
probably damaging |
Het |
Or14j2 |
A |
T |
17: 37,885,705 (GRCm39) |
L203Q |
possibly damaging |
Het |
Or5p59 |
T |
C |
7: 107,702,806 (GRCm39) |
Y97H |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
Smarcc1 |
A |
G |
9: 110,003,043 (GRCm39) |
N378D |
possibly damaging |
Het |
Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,632,185 (GRCm39) |
N772S |
possibly damaging |
Het |
Trim21 |
A |
G |
7: 102,209,178 (GRCm39) |
W282R |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,296,521 (GRCm39) |
Y447F |
possibly damaging |
Het |
Zfp160 |
G |
A |
17: 21,245,911 (GRCm39) |
V154I |
probably benign |
Het |
|
Other mutations in Crisp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02794:Crisp1
|
APN |
17 |
40,623,957 (GRCm39) |
missense |
unknown |
|
IGL03034:Crisp1
|
APN |
17 |
40,618,619 (GRCm39) |
missense |
probably benign |
0.11 |
R0670:Crisp1
|
UTSW |
17 |
40,616,001 (GRCm39) |
nonsense |
probably null |
|
R1672:Crisp1
|
UTSW |
17 |
40,619,760 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2264:Crisp1
|
UTSW |
17 |
40,623,965 (GRCm39) |
start codon destroyed |
probably null |
|
R4672:Crisp1
|
UTSW |
17 |
40,605,404 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5079:Crisp1
|
UTSW |
17 |
40,619,867 (GRCm39) |
splice site |
probably null |
|
R5832:Crisp1
|
UTSW |
17 |
40,612,208 (GRCm39) |
splice site |
probably null |
|
R6051:Crisp1
|
UTSW |
17 |
40,616,017 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7318:Crisp1
|
UTSW |
17 |
40,618,668 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7354:Crisp1
|
UTSW |
17 |
40,630,071 (GRCm39) |
start gained |
probably benign |
|
R7897:Crisp1
|
UTSW |
17 |
40,618,656 (GRCm39) |
missense |
probably benign |
0.06 |
R8830:Crisp1
|
UTSW |
17 |
40,605,310 (GRCm39) |
nonsense |
probably null |
|
R9010:Crisp1
|
UTSW |
17 |
40,616,101 (GRCm39) |
splice site |
probably benign |
|
R9800:Crisp1
|
UTSW |
17 |
40,616,071 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCCTGATTACTACACACTCTGG -3'
(R):5'- ACCTACATTGATTTCAGCTCAGAGC -3'
Sequencing Primer
(F):5'- TAGATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- CATTTGTAGTTGTGTTTCTCTGAACC -3'
|
Posted On |
2015-01-23 |