Incidental Mutation 'R6606:Fbln7'
ID |
525664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbln7
|
Ensembl Gene |
ENSMUSG00000027386 |
Gene Name |
fibulin 7 |
Synonyms |
1600015H20Rik |
MMRRC Submission |
044729-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6606 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
128705791-128738954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128719296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 31
(Q31R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028864]
[ENSMUST00000110324]
|
AlphaFold |
Q501P1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028864
AA Change: Q31R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028864 Gene: ENSMUSG00000027386 AA Change: Q31R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
CCP
|
81 |
134 |
7.5e-15 |
SMART |
EGF_CA
|
136 |
172 |
1.46e-7 |
SMART |
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
EGF_CA
|
225 |
270 |
2.08e-12 |
SMART |
EGF
|
274 |
320 |
1.95e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110324
AA Change: Q31R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105953 Gene: ENSMUSG00000027386 AA Change: Q31R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
CCP
|
81 |
134 |
7.5e-15 |
SMART |
EGF_CA
|
136 |
172 |
1.46e-7 |
SMART |
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
EGF_CA
|
225 |
270 |
2.08e-12 |
SMART |
EGF
|
274 |
320 |
1.95e1 |
SMART |
|
Meta Mutation Damage Score |
0.0894 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
Gprc5b |
G |
A |
7: 118,583,296 (GRCm39) |
P191L |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
probably benign |
Het |
|
Other mutations in Fbln7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00781:Fbln7
|
APN |
2 |
128,735,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02161:Fbln7
|
APN |
2 |
128,731,711 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02383:Fbln7
|
APN |
2 |
128,737,477 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03273:Fbln7
|
APN |
2 |
128,737,390 (GRCm39) |
missense |
probably benign |
0.00 |
R0463:Fbln7
|
UTSW |
2 |
128,719,431 (GRCm39) |
missense |
probably benign |
0.06 |
R0541:Fbln7
|
UTSW |
2 |
128,719,454 (GRCm39) |
splice site |
probably benign |
|
R1036:Fbln7
|
UTSW |
2 |
128,735,815 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1381:Fbln7
|
UTSW |
2 |
128,719,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Fbln7
|
UTSW |
2 |
128,719,349 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Fbln7
|
UTSW |
2 |
128,719,349 (GRCm39) |
missense |
probably benign |
0.00 |
R1584:Fbln7
|
UTSW |
2 |
128,719,349 (GRCm39) |
missense |
probably benign |
0.00 |
R1769:Fbln7
|
UTSW |
2 |
128,735,682 (GRCm39) |
splice site |
probably benign |
|
R1855:Fbln7
|
UTSW |
2 |
128,735,755 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2065:Fbln7
|
UTSW |
2 |
128,719,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R2066:Fbln7
|
UTSW |
2 |
128,719,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R2067:Fbln7
|
UTSW |
2 |
128,719,386 (GRCm39) |
missense |
probably damaging |
0.99 |
R4666:Fbln7
|
UTSW |
2 |
128,736,830 (GRCm39) |
splice site |
probably null |
|
R4679:Fbln7
|
UTSW |
2 |
128,736,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R4694:Fbln7
|
UTSW |
2 |
128,722,345 (GRCm39) |
splice site |
probably null |
|
R5933:Fbln7
|
UTSW |
2 |
128,719,418 (GRCm39) |
missense |
probably benign |
|
R6211:Fbln7
|
UTSW |
2 |
128,737,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R7519:Fbln7
|
UTSW |
2 |
128,735,785 (GRCm39) |
missense |
probably benign |
0.00 |
R9205:Fbln7
|
UTSW |
2 |
128,737,168 (GRCm39) |
missense |
probably null |
1.00 |
R9208:Fbln7
|
UTSW |
2 |
128,737,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R9645:Fbln7
|
UTSW |
2 |
128,719,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Fbln7
|
UTSW |
2 |
128,719,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCCAGAAGTGAGGGGTGC -3'
(R):5'- TGCACACGTGAAGGATAAACTG -3'
Sequencing Primer
(F):5'- CCTTGGAATGGCTGATCTACCAAG -3'
(R):5'- AGGTGTTGTTCTTGGCCCTCAC -3'
|
Posted On |
2018-06-22 |