Incidental Mutation 'R2655:Reck'
| ID |
252636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reck
|
| Ensembl Gene |
ENSMUSG00000028476 |
| Gene Name |
reversion-inducing-cysteine-rich protein with kazal motifs |
| Synonyms |
St15 |
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43875530-43944806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43938966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 777
(D777E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030198]
|
| AlphaFold |
Q9Z0J1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030198
AA Change: D777E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: D777E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
KAZAL
|
632 |
671 |
1.18e-2 |
SMART |
|
KAZAL
|
708 |
750 |
1.46e-2 |
SMART |
|
KAZAL
|
753 |
787 |
4.26e-2 |
SMART |
|
low complexity region
|
877 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
967 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130415
|
| Meta Mutation Damage Score |
0.0991 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10.5-E11.5, defects in collagen fibrils, basal lamina and vascular development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Reck |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Reck
|
APN |
4 |
43,940,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01569:Reck
|
APN |
4 |
43,925,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02341:Reck
|
APN |
4 |
43,925,160 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02637:Reck
|
APN |
4 |
43,898,009 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02709:Reck
|
APN |
4 |
43,913,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02829:Reck
|
APN |
4 |
43,891,014 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02928:Reck
|
APN |
4 |
43,912,078 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03132:Reck
|
APN |
4 |
43,938,898 (GRCm39) |
nonsense |
probably null |
|
|
PIT4453001:Reck
|
UTSW |
4 |
43,895,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0066:Reck
|
UTSW |
4 |
43,930,936 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0066:Reck
|
UTSW |
4 |
43,930,936 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0607:Reck
|
UTSW |
4 |
43,940,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0626:Reck
|
UTSW |
4 |
43,930,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Reck
|
UTSW |
4 |
43,922,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0932:Reck
|
UTSW |
4 |
43,922,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1564:Reck
|
UTSW |
4 |
43,912,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1633:Reck
|
UTSW |
4 |
43,922,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1772:Reck
|
UTSW |
4 |
43,890,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1968:Reck
|
UTSW |
4 |
43,913,771 (GRCm39) |
splice site |
probably null |
|
|
R2105:Reck
|
UTSW |
4 |
43,943,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2225:Reck
|
UTSW |
4 |
43,922,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2302:Reck
|
UTSW |
4 |
43,931,015 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2430:Reck
|
UTSW |
4 |
43,930,202 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3858:Reck
|
UTSW |
4 |
43,930,261 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4027:Reck
|
UTSW |
4 |
43,922,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4028:Reck
|
UTSW |
4 |
43,922,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4029:Reck
|
UTSW |
4 |
43,922,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Reck
|
UTSW |
4 |
43,942,293 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4497:Reck
|
UTSW |
4 |
43,891,001 (GRCm39) |
missense |
probably benign |
|
|
R4583:Reck
|
UTSW |
4 |
43,931,062 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4702:Reck
|
UTSW |
4 |
43,898,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5934:Reck
|
UTSW |
4 |
43,930,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Reck
|
UTSW |
4 |
43,922,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Reck
|
UTSW |
4 |
43,937,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Reck
|
UTSW |
4 |
43,890,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7903:Reck
|
UTSW |
4 |
43,927,166 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8047:Reck
|
UTSW |
4 |
43,927,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Reck
|
UTSW |
4 |
43,891,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8853:Reck
|
UTSW |
4 |
43,912,089 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8912:Reck
|
UTSW |
4 |
43,938,802 (GRCm39) |
intron |
probably benign |
|
|
R9084:Reck
|
UTSW |
4 |
43,922,809 (GRCm39) |
splice site |
probably benign |
|
|
R9342:Reck
|
UTSW |
4 |
43,943,301 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9553:Reck
|
UTSW |
4 |
43,928,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Reck
|
UTSW |
4 |
43,922,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Reck
|
UTSW |
4 |
43,914,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCCAAAACTTAAACCTGTGTC -3'
(R):5'- ATTTCCTGGGGTGGATCAGC -3'
Sequencing Primer
(F):5'- TGTCTTTTAACTTCCTGAAAATAGGG -3'
(R):5'- TCCTGGGGTGGATCAGCAAATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation