Incidental Mutation 'R2411:Creld1'
| ID |
249983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creld1
|
| Ensembl Gene |
ENSMUSG00000030284 |
| Gene Name |
cysteine-rich with EGF-like domains 1 |
| Synonyms |
|
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2411 (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 113466737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 240
(H240R)
|
| 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: H240R
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: H240R
| 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 |
0.1095 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,290 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
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 |
|
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'- ATGTTCGGGTAGGTAGCCAG -3'
(R):5'- CTAAGGTACTCCTGGTTCATCAG -3'
Sequencing Primer
(F):5'- CCAGAAGCTGTGGTGTAGGGC -3'
(R):5'- GTGTGGACATGACTCTTCCACAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation