Incidental Mutation 'R1633:Reck'
ID |
172901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Reck
|
Ensembl Gene |
ENSMUSG00000028476 |
Gene Name |
reversion-inducing-cysteine-rich protein with kazal motifs |
Synonyms |
St15 |
MMRRC Submission |
039670-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1633 (G1)
|
Quality Score |
121 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43875530-43944806 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43922964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 413
(V413A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030198]
|
AlphaFold |
Q9Z0J1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030198
AA Change: V413A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030198 Gene: ENSMUSG00000028476 AA Change: V413A
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.9%
- 20x: 83.9%
|
Validation Efficiency |
94% (68/72) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
C |
T |
1: 127,681,592 (GRCm39) |
A185V |
probably benign |
Het |
Acsl6 |
T |
C |
11: 54,219,224 (GRCm39) |
|
probably benign |
Het |
Arel1 |
A |
G |
12: 84,973,057 (GRCm39) |
F580S |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,965,871 (GRCm39) |
|
probably benign |
Het |
Bpifb3 |
T |
A |
2: 153,764,504 (GRCm39) |
L132Q |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,525,114 (GRCm39) |
D516E |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,586,793 (GRCm39) |
R882G |
unknown |
Het |
Cep162 |
T |
C |
9: 87,085,736 (GRCm39) |
E1196G |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,435,166 (GRCm39) |
S231T |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,028,927 (GRCm39) |
T44A |
probably benign |
Het |
Edrf1 |
T |
C |
7: 133,253,869 (GRCm39) |
S536P |
probably damaging |
Het |
Eif5 |
T |
A |
12: 111,506,721 (GRCm39) |
N104K |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,671,680 (GRCm39) |
Y438C |
probably damaging |
Het |
Ess2 |
A |
G |
16: 17,727,831 (GRCm39) |
V116A |
probably benign |
Het |
Galnt4 |
T |
C |
10: 98,945,814 (GRCm39) |
V513A |
possibly damaging |
Het |
Gdpd5 |
T |
C |
7: 99,097,720 (GRCm39) |
I172T |
probably benign |
Het |
Ggt7 |
C |
T |
2: 155,344,608 (GRCm39) |
G245D |
probably damaging |
Het |
Gm5884 |
A |
T |
6: 128,623,028 (GRCm39) |
|
noncoding transcript |
Het |
Herc2 |
G |
A |
7: 55,879,117 (GRCm39) |
G4669R |
probably null |
Het |
Hydin |
T |
A |
8: 111,233,614 (GRCm39) |
D1817E |
probably benign |
Het |
Igf2r |
A |
C |
17: 12,945,196 (GRCm39) |
N359K |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,898,586 (GRCm39) |
F1722L |
probably damaging |
Het |
Itih3 |
T |
A |
14: 30,639,355 (GRCm39) |
E406V |
possibly damaging |
Het |
Lamc2 |
A |
T |
1: 153,017,444 (GRCm39) |
C514* |
probably null |
Het |
Mepe |
G |
T |
5: 104,485,540 (GRCm39) |
V227F |
probably benign |
Het |
Nadk |
C |
T |
4: 155,661,642 (GRCm39) |
T56I |
probably damaging |
Het |
Nedd4 |
G |
A |
9: 72,578,539 (GRCm39) |
V84I |
possibly damaging |
Het |
Nipal3 |
C |
A |
4: 135,174,659 (GRCm39) |
R364L |
probably benign |
Het |
Nkx2-9 |
T |
C |
12: 56,659,766 (GRCm39) |
R27G |
probably benign |
Het |
Noc2l |
T |
A |
4: 156,329,750 (GRCm39) |
S600T |
probably benign |
Het |
Or1l4b |
T |
A |
2: 37,036,983 (GRCm39) |
I253N |
probably damaging |
Het |
Or1o3 |
T |
A |
17: 37,574,553 (GRCm39) |
M1L |
probably benign |
Het |
Or2c1 |
A |
C |
16: 3,657,396 (GRCm39) |
K186N |
probably damaging |
Het |
Pax6 |
A |
T |
2: 105,522,063 (GRCm39) |
E240V |
probably damaging |
Het |
Pdilt |
T |
G |
7: 119,087,217 (GRCm39) |
T478P |
probably damaging |
Het |
Phldb1 |
T |
A |
9: 44,629,619 (GRCm39) |
I25F |
probably damaging |
Het |
Rad50 |
C |
T |
11: 53,583,686 (GRCm39) |
R365Q |
probably benign |
Het |
Rdh10 |
A |
G |
1: 16,198,420 (GRCm39) |
E186G |
possibly damaging |
Het |
Rdh12 |
A |
T |
12: 79,265,498 (GRCm39) |
E224V |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,927,696 (GRCm39) |
I1392V |
probably benign |
Het |
Simc1 |
G |
A |
13: 54,673,044 (GRCm39) |
G464D |
probably benign |
Het |
Srf |
A |
T |
17: 46,862,534 (GRCm39) |
V318E |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,872,337 (GRCm39) |
|
probably null |
Het |
Stk3 |
T |
C |
15: 34,959,206 (GRCm39) |
D322G |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,430,986 (GRCm39) |
|
probably benign |
Het |
Sult2a1 |
A |
G |
7: 13,535,351 (GRCm39) |
I234T |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,299,388 (GRCm39) |
F956L |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,631,771 (GRCm39) |
I910N |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
Tmem63a |
T |
A |
1: 180,776,391 (GRCm39) |
V67E |
probably damaging |
Het |
Tram2 |
A |
T |
1: 21,074,146 (GRCm39) |
V264E |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,652,854 (GRCm39) |
C106* |
probably null |
Het |
Tspyl5 |
T |
A |
15: 33,686,791 (GRCm39) |
K385* |
probably null |
Het |
Vezt |
T |
A |
10: 93,820,138 (GRCm39) |
Q409L |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,687,042 (GRCm39) |
C808R |
possibly damaging |
Het |
Wdfy3 |
A |
C |
5: 102,129,414 (GRCm39) |
V4G |
probably damaging |
Het |
Wdr95 |
A |
T |
5: 149,516,637 (GRCm39) |
I493F |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,465,473 (GRCm39) |
N1877I |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,804,226 (GRCm39) |
D215G |
probably benign |
Het |
Zfp442 |
A |
T |
2: 150,250,260 (GRCm39) |
Y490* |
probably null |
Het |
Zfp804b |
A |
G |
5: 7,229,513 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCCTATGGTGGGTCTTATGCG -3'
(R):5'- AGATGGGGAGCATCCTTCAAGCAG -3'
Sequencing Primer
(F):5'- GCGCTCTCTCTTTAAGAAAATCAG -3'
(R):5'- GGCAGGAATGACTTACTTGC -3'
|
Posted On |
2014-04-24 |