Incidental Mutation 'R1724:Creld1'
| ID |
191673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creld1
|
| Ensembl Gene |
ENSMUSG00000030284 |
| Gene Name |
cysteine-rich with EGF-like domains 1 |
| Synonyms |
|
| MMRRC Submission |
039756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113460317-113470304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113461535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 85
(D85G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032422]
[ENSMUST00000058300]
|
| AlphaFold |
Q91XD7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032422
AA Change: D85G
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: D85G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF3456
|
45 |
103 |
1.7e-9 |
PFAM |
|
EGF
|
154 |
193 |
2.11e1 |
SMART |
|
FU
|
208 |
255 |
1.66e-1 |
SMART |
|
EGF
|
213 |
244 |
2.2e1 |
SMART |
|
EGF_like
|
245 |
290 |
4.26e-3 |
SMART |
|
FU
|
268 |
315 |
4.46e-2 |
SMART |
|
EGF_CA
|
305 |
344 |
1.1e-7 |
SMART |
|
transmembrane domain
|
363 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
406 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058300
|
| SMART Domains |
Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:IL17_R_N
|
71 |
190 |
2.8e-45 |
PFAM |
|
Pfam:IL17_R_N
|
189 |
432 |
1.3e-93 |
PFAM |
|
transmembrane domain
|
441 |
460 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
473 |
623 |
7.7e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205208
|
| Meta Mutation Damage Score |
0.0968 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.0%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,881,306 (GRCm39) |
V761A |
probably benign |
Het |
| Arap1 |
G |
T |
7: 101,049,733 (GRCm39) |
A1032S |
possibly damaging |
Het |
| Atg4d |
C |
T |
9: 21,179,741 (GRCm39) |
H230Y |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bcdin3d |
T |
A |
15: 99,368,561 (GRCm39) |
K213* |
probably null |
Het |
| Cep295nl |
T |
A |
11: 118,223,854 (GRCm39) |
E330V |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,714 (GRCm39) |
Y562C |
probably damaging |
Het |
| Col9a2 |
G |
A |
4: 120,911,099 (GRCm39) |
R578Q |
probably damaging |
Het |
| Cth |
A |
T |
3: 157,619,364 (GRCm39) |
V153D |
probably damaging |
Het |
| Dazap2 |
T |
A |
15: 100,515,884 (GRCm39) |
Y71N |
probably damaging |
Het |
| Ddah1 |
A |
C |
3: 145,597,261 (GRCm39) |
D269A |
probably damaging |
Het |
| Dhx9 |
A |
C |
1: 153,334,234 (GRCm39) |
D975E |
probably benign |
Het |
| Erich3 |
T |
A |
3: 154,467,964 (GRCm39) |
D805E |
possibly damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Gabpb2 |
T |
C |
3: 95,113,826 (GRCm39) |
D19G |
probably damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,161,651 (GRCm39) |
M325K |
probably damaging |
Het |
| Galntl5 |
T |
G |
5: 25,425,120 (GRCm39) |
N379K |
possibly damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Gm5356 |
G |
A |
8: 89,913,684 (GRCm39) |
|
noncoding transcript |
Het |
| Kifap3 |
C |
T |
1: 163,610,666 (GRCm39) |
R49* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,726 (GRCm39) |
V44E |
unknown |
Het |
| Lmbr1 |
T |
A |
5: 29,566,081 (GRCm39) |
E48D |
probably benign |
Het |
| Nes |
C |
A |
3: 87,884,748 (GRCm39) |
N958K |
probably benign |
Het |
| Nwd1 |
A |
C |
8: 73,438,248 (GRCm39) |
H1432P |
probably damaging |
Het |
| Or2d2b |
G |
A |
7: 106,705,409 (GRCm39) |
H220Y |
probably benign |
Het |
| Or52h9 |
T |
C |
7: 104,202,435 (GRCm39) |
F103S |
probably damaging |
Het |
| Osgepl1 |
A |
G |
1: 53,357,062 (GRCm39) |
T75A |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,302,529 (GRCm39) |
S358P |
possibly damaging |
Het |
| Pramel14 |
C |
T |
4: 143,720,002 (GRCm39) |
G121D |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Sdc4 |
G |
T |
2: 164,273,206 (GRCm39) |
Q35K |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,824,882 (GRCm39) |
S377G |
probably benign |
Het |
| Spag16 |
G |
C |
1: 70,532,941 (GRCm39) |
G540A |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,221,480 (GRCm39) |
D517E |
probably benign |
Het |
| Taf3 |
A |
G |
2: 9,957,177 (GRCm39) |
V177A |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,906,162 (GRCm39) |
L246P |
possibly damaging |
Het |
| Tle7 |
C |
A |
8: 110,836,795 (GRCm39) |
T227N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,885,569 (GRCm39) |
G862* |
probably null |
Het |
| Trpm8 |
A |
T |
1: 88,278,578 (GRCm39) |
T584S |
possibly damaging |
Het |
| Ythdc2 |
T |
C |
18: 44,961,757 (GRCm39) |
S2P |
probably benign |
Het |
| Zc2hc1c |
G |
T |
12: 85,336,586 (GRCm39) |
R81L |
probably benign |
Het |
| Zfp292 |
C |
A |
4: 34,811,237 (GRCm39) |
L602F |
probably damaging |
Het |
|
| Other mutations in Creld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01924:Creld1
|
APN |
6 |
113,460,921 (GRCm39) |
missense |
probably benign |
|
|
IGL01959:Creld1
|
APN |
6 |
113,469,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03061:Creld1
|
APN |
6 |
113,465,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03266:Creld1
|
APN |
6 |
113,466,558 (GRCm39) |
missense |
probably benign |
0.05 |
|
impregnable
|
UTSW |
6 |
113,466,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Creld1
|
UTSW |
6 |
113,468,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1144:Creld1
|
UTSW |
6 |
113,460,922 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1192:Creld1
|
UTSW |
6 |
113,466,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Creld1
|
UTSW |
6 |
113,466,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Creld1
|
UTSW |
6 |
113,469,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Creld1
|
UTSW |
6 |
113,466,737 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3956:Creld1
|
UTSW |
6 |
113,469,190 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4757:Creld1
|
UTSW |
6 |
113,469,208 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4939:Creld1
|
UTSW |
6 |
113,465,140 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5887:Creld1
|
UTSW |
6 |
113,469,860 (GRCm39) |
makesense |
probably null |
|
|
R6813:Creld1
|
UTSW |
6 |
113,466,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Creld1
|
UTSW |
6 |
113,465,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Creld1
|
UTSW |
6 |
113,468,933 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8357:Creld1
|
UTSW |
6 |
113,468,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8457:Creld1
|
UTSW |
6 |
113,468,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8514:Creld1
|
UTSW |
6 |
113,469,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Creld1
|
UTSW |
6 |
113,468,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Creld1
|
UTSW |
6 |
113,461,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Creld1
|
UTSW |
6 |
113,466,728 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9514:Creld1
|
UTSW |
6 |
113,469,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTGTCACAGTGCCTCAGTTTTC -3'
(R):5'- CCTACTGTTCAAACGGACCATCCTG -3'
Sequencing Primer
(F):5'- tggggaggcagaggcag -3'
(R):5'- TCTTCACCTGACAGGTTGTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation