Incidental Mutation 'R1592:Fbln1'
| ID |
175688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbln1
|
| Ensembl Gene |
ENSMUSG00000006369 |
| Gene Name |
fibulin 1 |
| Synonyms |
|
| MMRRC Submission |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
85090150-85170495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85115665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 234
(S234T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057410]
[ENSMUST00000109432]
|
| AlphaFold |
Q08879 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057410
AA Change: S234T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: S234T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
ANATO
|
36 |
69 |
3.67e-9 |
SMART |
|
ANATO
|
77 |
110 |
1.61e-5 |
SMART |
|
ANATO
|
112 |
144 |
2.23e-8 |
SMART |
|
EGF
|
181 |
217 |
2.32e-1 |
SMART |
|
EGF_CA
|
218 |
263 |
5.08e-7 |
SMART |
|
EGF_CA
|
264 |
309 |
5.44e-7 |
SMART |
|
EGF_CA
|
310 |
357 |
9.62e-8 |
SMART |
|
EGF_CA
|
358 |
400 |
1.11e-12 |
SMART |
|
EGF_CA
|
401 |
442 |
4.77e-12 |
SMART |
|
EGF_CA
|
443 |
482 |
1.98e-9 |
SMART |
|
EGF_CA
|
483 |
526 |
4.7e-11 |
SMART |
|
EGF
|
530 |
580 |
1.25e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109432
AA Change: S234T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: S234T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
ANATO
|
36 |
69 |
3.67e-9 |
SMART |
|
ANATO
|
77 |
110 |
1.61e-5 |
SMART |
|
ANATO
|
112 |
144 |
2.23e-8 |
SMART |
|
EGF
|
181 |
217 |
2.32e-1 |
SMART |
|
EGF_CA
|
218 |
263 |
5.08e-7 |
SMART |
|
EGF_CA
|
264 |
309 |
5.44e-7 |
SMART |
|
EGF_CA
|
310 |
357 |
9.62e-8 |
SMART |
|
EGF_CA
|
358 |
400 |
1.11e-12 |
SMART |
|
EGF_CA
|
401 |
442 |
4.77e-12 |
SMART |
|
EGF_CA
|
443 |
482 |
1.98e-9 |
SMART |
|
EGF_CA
|
483 |
526 |
4.7e-11 |
SMART |
|
EGF_CA
|
527 |
571 |
7.18e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.0888 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably damaging |
Het |
|
| Other mutations in Fbln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Fbln1
|
APN |
15 |
85,111,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01017:Fbln1
|
APN |
15 |
85,128,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02514:Fbln1
|
APN |
15 |
85,128,463 (GRCm39) |
nonsense |
probably null |
|
|
IGL02693:Fbln1
|
APN |
15 |
85,113,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02734:Fbln1
|
APN |
15 |
85,111,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02964:Fbln1
|
APN |
15 |
85,115,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03176:Fbln1
|
APN |
15 |
85,128,507 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03274:Fbln1
|
APN |
15 |
85,116,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0090:Fbln1
|
UTSW |
15 |
85,108,489 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0148:Fbln1
|
UTSW |
15 |
85,115,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0393:Fbln1
|
UTSW |
15 |
85,111,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0564:Fbln1
|
UTSW |
15 |
85,111,308 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1276:Fbln1
|
UTSW |
15 |
85,113,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Fbln1
|
UTSW |
15 |
85,111,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2312:Fbln1
|
UTSW |
15 |
85,147,549 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2363:Fbln1
|
UTSW |
15 |
85,111,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3082:Fbln1
|
UTSW |
15 |
85,149,454 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3083:Fbln1
|
UTSW |
15 |
85,149,454 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3751:Fbln1
|
UTSW |
15 |
85,111,279 (GRCm39) |
nonsense |
probably null |
|
|
R3752:Fbln1
|
UTSW |
15 |
85,111,279 (GRCm39) |
nonsense |
probably null |
|
|
R3753:Fbln1
|
UTSW |
15 |
85,111,279 (GRCm39) |
nonsense |
probably null |
|
|
R4028:Fbln1
|
UTSW |
15 |
85,111,317 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4406:Fbln1
|
UTSW |
15 |
85,115,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4407:Fbln1
|
UTSW |
15 |
85,115,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4408:Fbln1
|
UTSW |
15 |
85,115,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4612:Fbln1
|
UTSW |
15 |
85,122,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4811:Fbln1
|
UTSW |
15 |
85,111,167 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5022:Fbln1
|
UTSW |
15 |
85,121,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5121:Fbln1
|
UTSW |
15 |
85,121,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Fbln1
|
UTSW |
15 |
85,090,353 (GRCm39) |
missense |
unknown |
|
|
R7285:Fbln1
|
UTSW |
15 |
85,121,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7492:Fbln1
|
UTSW |
15 |
85,111,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Fbln1
|
UTSW |
15 |
85,124,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8100:Fbln1
|
UTSW |
15 |
85,169,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8379:Fbln1
|
UTSW |
15 |
85,116,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Fbln1
|
UTSW |
15 |
85,126,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATGCAGGAAGCCAGATCCAC -3'
(R):5'- AGGACCCTGGACTTGTTTGTCAAAG -3'
Sequencing Primer
(F):5'- GGTTACTTCTGCATCGCCTT -3'
(R):5'- TTGTCAAAGATCAGGCTCCG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation