Incidental Mutation 'R8477:Reck'
| ID |
657292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reck
|
| Ensembl Gene |
ENSMUSG00000028476 |
| Gene Name |
reversion-inducing-cysteine-rich protein with kazal motifs |
| Synonyms |
St15 |
| MMRRC Submission |
067921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43875530-43944806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43891011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 50
(V50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030198]
|
| AlphaFold |
Q9Z0J1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030198
AA Change: V50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030198
Gene: ENSMUSG00000028476
AA Change: V50L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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 |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,174 (GRCm39) |
S94L |
probably benign |
Het |
| Ackr1 |
C |
T |
1: 173,159,755 (GRCm39) |
G255R |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,337,785 (GRCm39) |
T560I |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,266 (GRCm39) |
F384I |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,943,679 (GRCm39) |
Q2671L |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,844,223 (GRCm39) |
E95G |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,385,385 (GRCm39) |
H2298Q |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,246,467 (GRCm39) |
|
probably null |
Het |
| Csnk1g1 |
T |
C |
9: 65,909,555 (GRCm39) |
L224P |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,708 (GRCm39) |
K241N |
probably benign |
Het |
| Cyp2c55 |
G |
T |
19: 38,999,485 (GRCm39) |
V64L |
probably damaging |
Het |
| Dlgap1 |
A |
C |
17: 70,823,967 (GRCm39) |
Q317H |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,505,212 (GRCm39) |
D108G |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,243,390 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,138,958 (GRCm39) |
R424G |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,672 (GRCm39) |
K367R |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,406,891 (GRCm39) |
Y228C |
probably benign |
Het |
| Exosc10 |
A |
T |
4: 148,649,847 (GRCm39) |
I426L |
possibly damaging |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
| Gm19965 |
A |
C |
1: 116,730,854 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,548,133 (GRCm39) |
K1640E |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,879,182 (GRCm39) |
C1557S |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,029,684 (GRCm39) |
S799N |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,617,185 (GRCm39) |
W17R |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,696 (GRCm39) |
T2592S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,200 (GRCm39) |
T113I |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,370,006 (GRCm39) |
V211D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,105 (GRCm39) |
Y121C |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,992,138 (GRCm39) |
T597A |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,581,279 (GRCm39) |
E688G |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,644,539 (GRCm39) |
A589T |
possibly damaging |
Het |
| Limch1 |
G |
A |
5: 67,131,908 (GRCm39) |
V133I |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,164,407 (GRCm39) |
A1670T |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,684,942 (GRCm39) |
L949Q |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,159,219 (GRCm39) |
V833A |
probably benign |
Het |
| Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,099 (GRCm39) |
Y290N |
probably damaging |
Het |
| Osgep |
C |
A |
14: 51,155,334 (GRCm39) |
A75S |
probably damaging |
Het |
| Pank1 |
C |
A |
19: 34,856,055 (GRCm39) |
R141L |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,307 (GRCm39) |
S278T |
probably benign |
Het |
| Pcdhgb8 |
C |
A |
18: 37,896,365 (GRCm39) |
F478L |
probably benign |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,626,312 (GRCm39) |
P1613S |
probably benign |
Het |
| Pramel55 |
A |
C |
5: 95,949,567 (GRCm39) |
M105L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,381,124 (GRCm39) |
S251A |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,320,029 (GRCm39) |
H546R |
probably damaging |
Het |
| Rerg |
T |
C |
6: 137,033,184 (GRCm39) |
T164A |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,346 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,575,183 (GRCm39) |
T959A |
probably damaging |
Het |
| Slc28a3 |
T |
A |
13: 58,724,609 (GRCm39) |
N215I |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,210,119 (GRCm39) |
V35I |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,718,986 (GRCm39) |
S610T |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,079 (GRCm39) |
F1624L |
probably benign |
Het |
| Tmem147 |
T |
A |
7: 30,427,656 (GRCm39) |
M86L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,636,622 (GRCm39) |
V195A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,774,038 (GRCm39) |
S112G |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,078,693 (GRCm39) |
V424A |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,200 (GRCm39) |
I252M |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp37 |
A |
G |
4: 62,110,240 (GRCm39) |
C275R |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,757,137 (GRCm39) |
I357F |
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 |
|
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 |
|
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'- AACAAATCTAGCACCCACGTTGT -3'
(R):5'- AGCACCCCAAATTAAATCTTAGC -3'
Sequencing Primer
(F):5'- CCTAATAACAGCACTTTGGAGGCTG -3'
(R):5'- TGCTAGGATCACGCCACTGATAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation