Incidental Mutation 'R2430:Reck'
| ID |
250370 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2430 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43875530-43944806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43930202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 592
(T592I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030198]
|
| AlphaFold |
Q9Z0J1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030198
AA Change: T592I
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: T592I
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arc |
T |
C |
15: 74,543,740 (GRCm39) |
E161G |
probably benign |
Het |
| Ass1 |
A |
G |
2: 31,391,508 (GRCm39) |
H261R |
probably damaging |
Het |
| Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,667 (GRCm39) |
D484G |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
| Nipsnap2 |
A |
G |
5: 129,821,855 (GRCm39) |
D117G |
possibly damaging |
Het |
| Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,999 (GRCm39) |
M153K |
possibly damaging |
Het |
| Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
| Pdss1 |
T |
A |
2: 22,819,605 (GRCm39) |
Y289* |
probably null |
Het |
| Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
| Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
| Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
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 |
|
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'- CCTTAGATTTAGGCCCCTAGTTT -3'
(R):5'- TGCAGTGCCTGGGAGAGAA -3'
Sequencing Primer
(F):5'- AAACCTGACCTGAGTGTGCTC -3'
(R):5'- TGCCTGGGAGAGAACAAGTGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation