Incidental Mutation 'IGL03266:Creld1'
| ID |
415090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Creld1
|
| Ensembl Gene |
ENSMUSG00000030284 |
| Gene Name |
cysteine-rich with EGF-like domains 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
113460317-113470304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113466558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 208
(H208Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032422]
[ENSMUST00000101059]
[ENSMUST00000204134]
[ENSMUST00000204268]
|
| AlphaFold |
Q91XD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032422
AA Change: H208Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: H208Q
| 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 |
|
| Coding Region Coverage |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
T |
6: 88,815,916 (GRCm39) |
V185E |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,374,578 (GRCm39) |
E815G |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 71,003,440 (GRCm39) |
S261A |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,719,924 (GRCm39) |
V504A |
possibly damaging |
Het |
| Btla |
T |
C |
16: 45,059,638 (GRCm39) |
I114T |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,705 (GRCm39) |
I348L |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,871,805 (GRCm39) |
I159F |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,367,366 (GRCm39) |
V334I |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,174,855 (GRCm39) |
V1953M |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,891,709 (GRCm39) |
A595T |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,090,116 (GRCm39) |
M125L |
unknown |
Het |
| Itprid2 |
G |
A |
2: 79,472,534 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
G |
7: 43,619,900 (GRCm39) |
L153R |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,849,151 (GRCm39) |
M957K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,189 (GRCm39) |
A137V |
probably benign |
Het |
| Met |
T |
A |
6: 17,540,537 (GRCm39) |
L821Q |
possibly damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,806 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,067,150 (GRCm39) |
T202A |
probably benign |
Het |
| Nae1 |
T |
C |
8: 105,239,828 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,348 (GRCm39) |
I2240N |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,493,024 (GRCm39) |
L552P |
possibly damaging |
Het |
| Trbv3 |
C |
A |
6: 41,025,658 (GRCm39) |
Q83K |
probably benign |
Het |
| Uaca |
A |
T |
9: 60,770,689 (GRCm39) |
D344V |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,377,921 (GRCm39) |
E303G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,189,129 (GRCm39) |
D1452E |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,655,040 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation