Incidental Mutation 'R1192:Creld1'
| ID |
100880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creld1
|
| Ensembl Gene |
ENSMUSG00000030284 |
| Gene Name |
cysteine-rich with EGF-like domains 1 |
| Synonyms |
|
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113460317-113470304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113466440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 169
(C169F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032422]
[ENSMUST00000101059]
[ENSMUST00000204134]
[ENSMUST00000204268]
|
| AlphaFold |
Q91XD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032422
AA Change: C169F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: C169F
| 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: ENSMUST00000101059
|
| SMART Domains |
Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
447 |
N/A |
INTRINSIC |
|
transmembrane domain
|
463 |
485 |
N/A |
INTRINSIC |
|
transmembrane domain
|
492 |
511 |
N/A |
INTRINSIC |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
561 |
583 |
N/A |
INTRINSIC |
|
transmembrane domain
|
588 |
610 |
N/A |
INTRINSIC |
|
transmembrane domain
|
630 |
652 |
N/A |
INTRINSIC |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
905 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
943 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204134
|
| SMART Domains |
Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
448 |
N/A |
INTRINSIC |
|
transmembrane domain
|
464 |
486 |
N/A |
INTRINSIC |
|
transmembrane domain
|
493 |
512 |
N/A |
INTRINSIC |
|
transmembrane domain
|
527 |
549 |
N/A |
INTRINSIC |
|
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
|
transmembrane domain
|
589 |
611 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204268
|
| SMART Domains |
Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
448 |
N/A |
INTRINSIC |
|
transmembrane domain
|
464 |
486 |
N/A |
INTRINSIC |
|
transmembrane domain
|
493 |
512 |
N/A |
INTRINSIC |
|
transmembrane domain
|
527 |
549 |
N/A |
INTRINSIC |
|
transmembrane domain
|
562 |
584 |
N/A |
INTRINSIC |
|
transmembrane domain
|
589 |
611 |
N/A |
INTRINSIC |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
906 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
944 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6516 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
97% (32/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
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 |
|
R1517:Creld1
|
UTSW |
6 |
113,466,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1724:Creld1
|
UTSW |
6 |
113,461,535 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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'- CCTAGCCTGCATTAGAGCTATTGCTCC -3'
(R):5'- AGCTTCTGGCTACCTACCCGAACATAC -3'
Sequencing Primer
(F):5'- ggaggctgaggctagagg -3'
(R):5'- ACATACCAGATGGCTGCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation