Incidental Mutation 'IGL02829:Reck'
| ID |
361348 |
| 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 # |
IGL02829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43875530-43944806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43891014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 51
(C51S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030198]
|
| AlphaFold |
Q9Z0J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030198
AA Change: C51S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: C51S
| 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
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,490,780 (GRCm39) |
T303A |
probably damaging |
Het |
| Bet1 |
T |
A |
6: 4,086,795 (GRCm39) |
M1L |
probably benign |
Het |
| Bicc1 |
A |
C |
10: 70,794,710 (GRCm39) |
V149G |
probably damaging |
Het |
| Braf |
C |
A |
6: 39,604,662 (GRCm39) |
L655F |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,925,881 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,956,389 (GRCm39) |
K290E |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,811,506 (GRCm39) |
I671K |
unknown |
Het |
| D130052B06Rik |
A |
C |
11: 33,573,864 (GRCm39) |
T154P |
probably benign |
Het |
| Dglucy |
A |
C |
12: 100,837,663 (GRCm39) |
H602P |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,767,146 (GRCm39) |
I220V |
probably benign |
Het |
| Gm42878 |
A |
G |
5: 121,675,266 (GRCm39) |
V101A |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,764,497 (GRCm39) |
L381P |
probably benign |
Het |
| Ifi208 |
C |
A |
1: 173,510,406 (GRCm39) |
P187H |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,382,000 (GRCm39) |
C2473S |
unknown |
Het |
| Miip |
T |
A |
4: 147,947,518 (GRCm39) |
N214I |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,227,533 (GRCm39) |
T589A |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,930,277 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,365 (GRCm39) |
R233G |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,273 (GRCm39) |
C417S |
probably benign |
Het |
| Or13f5 |
C |
T |
4: 52,826,027 (GRCm39) |
P210L |
probably damaging |
Het |
| Or4c111 |
A |
C |
2: 88,844,021 (GRCm39) |
L129W |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,599 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,955 (GRCm39) |
Y515H |
probably damaging |
Het |
| Pla2g2e |
T |
A |
4: 138,607,747 (GRCm39) |
Y42* |
probably null |
Het |
| Polh |
A |
T |
17: 46,483,828 (GRCm39) |
L479Q |
possibly damaging |
Het |
| Prr36 |
T |
A |
8: 4,265,278 (GRCm39) |
R157S |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,701,236 (GRCm39) |
D1911G |
probably damaging |
Het |
| Scgb1b27 |
A |
T |
7: 33,721,173 (GRCm39) |
|
probably null |
Het |
| Sema4g |
G |
A |
19: 44,981,188 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,400,061 (GRCm39) |
Y158* |
probably null |
Het |
| Slc15a2 |
C |
A |
16: 36,577,555 (GRCm39) |
G435C |
possibly damaging |
Het |
| Tbc1d17 |
C |
A |
7: 44,498,296 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,544,205 (GRCm39) |
Q2074* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,469,564 (GRCm39) |
C244R |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,026,172 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,879 (GRCm39) |
Q338L |
possibly damaging |
Het |
| Wdr70 |
C |
T |
15: 8,006,463 (GRCm39) |
D363N |
possibly damaging |
Het |
| Yipf7 |
A |
T |
5: 69,698,434 (GRCm39) |
S24R |
probably benign |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation