Incidental Mutation 'IGL03132:Reck'
| ID |
410385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Reck
|
| Ensembl Gene |
ENSMUSG00000028476 |
| Gene Name |
reversion-inducing-cysteine-rich protein with kazal motifs |
| Synonyms |
St15 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43875530-43944806 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 43938898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 755
(R755*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030198]
|
| AlphaFold |
Q9Z0J1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030198
AA Change: R755*
|
| SMART Domains |
Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: R755*
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
| Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,838,674 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
| Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
| Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,514,379 (GRCm39) |
V232A |
probably benign |
Het |
| Gpa33 |
G |
A |
1: 165,980,218 (GRCm39) |
D94N |
probably benign |
Het |
| Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
| Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
A |
3: 67,495,273 (GRCm39) |
I131K |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
| Ptpn11 |
T |
A |
5: 121,272,878 (GRCm39) |
D575V |
possibly damaging |
Het |
| Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
| Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,220,755 (GRCm39) |
T36A |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
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 |
|
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 |
|
R2655:Reck
|
UTSW |
4 |
43,938,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation