Incidental Mutation 'R8457:Creld1'
| ID |
655062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creld1
|
| Ensembl Gene |
ENSMUSG00000030284 |
| Gene Name |
cysteine-rich with EGF-like domains 1 |
| Synonyms |
|
| MMRRC Submission |
067834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113460317-113470304 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 113468699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032422]
[ENSMUST00000101059]
[ENSMUST00000204134]
[ENSMUST00000204268]
[ENSMUST00000205075]
[ENSMUST00000205170]
|
| AlphaFold |
Q91XD7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032422
|
| SMART Domains |
Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
| 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 |
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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205075
|
| SMART Domains |
Protein: ENSMUSP00000145089
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205170
|
| SMART Domains |
Protein: ENSMUSP00000145183
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,968,929 (GRCm39) |
S722T |
probably damaging |
Het |
| Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
| Disp3 |
T |
A |
4: 148,345,572 (GRCm39) |
I423F |
possibly damaging |
Het |
| Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
| E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
| Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
| Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
| Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
| Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
| Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
| Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,843,194 (GRCm39) |
N440D |
possibly damaging |
Het |
| Ivns1abp |
T |
A |
1: 151,229,761 (GRCm39) |
L150M |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
| Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
| Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
| Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
| Slc6a13 |
G |
A |
6: 121,303,063 (GRCm39) |
|
probably null |
Het |
| Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,923,352 (GRCm39) |
S276R |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,078 (GRCm39) |
V79A |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
possibly 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 |
|
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 |
|
|
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'- TGCGATCATAGACAAGTCCACTC -3'
(R):5'- AGAAGACTCACCTAGGCACTTG -3'
Sequencing Primer
(F):5'- ACTCCTGGACAGTCCTGC -3'
(R):5'- TCTGGAGCCTGAATAGCA -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation