Incidental Mutation 'R1036:Fbln7'
| ID |
93771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln7
|
| Ensembl Gene |
ENSMUSG00000027386 |
| Gene Name |
fibulin 7 |
| Synonyms |
1600015H20Rik |
| MMRRC Submission |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128705791-128738954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128735815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 268
(S268G)
|
| 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: S268G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: S268G
| 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: S268G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: S268G
| 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 |
0.1199 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
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 |
|
|
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 |
|
R6606:Fbln7
|
UTSW |
2 |
128,719,296 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- ATTGCTGTGTCCAGCCACTCAGTC -3'
(R):5'- GCGTCACTCACATGAGGTCAGAAG -3'
Sequencing Primer
(F):5'- AGCTGCCAATGAGTCTGG -3'
(R):5'- GAGTGATCAACCAACCTGTTTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation