Incidental Mutation 'R5498:Furin'
| ID |
432471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Furin
|
| Ensembl Gene |
ENSMUSG00000030530 |
| Gene Name |
furin, paired basic amino acid cleaving enzyme |
| Synonyms |
PACE, 9130404I01Rik, SPC1, Pcsk3, Fur |
| MMRRC Submission |
043059-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5498 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80038942-80055188 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80041542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 539
(W539R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080932]
[ENSMUST00000107362]
[ENSMUST00000120753]
[ENSMUST00000122232]
[ENSMUST00000205617]
[ENSMUST00000206539]
[ENSMUST00000206728]
[ENSMUST00000206479]
[ENSMUST00000206698]
[ENSMUST00000206744]
|
| AlphaFold |
P23188 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080932
|
| SMART Domains |
Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
1 |
94 |
2.22e-26 |
SMART |
|
coiled coil region
|
133 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
320 |
344 |
N/A |
INTRINSIC |
|
SH2
|
458 |
536 |
8.41e-26 |
SMART |
|
TyrKc
|
561 |
814 |
1.57e-144 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107362
AA Change: W539R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102985
Gene: ENSMUSG00000030530
AA Change: W539R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PDB:1KN6|A
|
27 |
107 |
4e-7 |
PDB |
|
Pfam:Peptidase_S8
|
148 |
436 |
3.2e-62 |
PFAM |
|
Pfam:P_proprotein
|
484 |
570 |
1.3e-33 |
PFAM |
|
FU
|
577 |
620 |
4.67e-5 |
SMART |
|
FU
|
638 |
681 |
2.13e-8 |
SMART |
|
transmembrane domain
|
713 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120753
AA Change: W539R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113793
Gene: ENSMUSG00000030530
AA Change: W539R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:S8_pro-domain
|
33 |
107 |
5.8e-28 |
PFAM |
|
Pfam:Peptidase_S8
|
144 |
427 |
9.1e-51 |
PFAM |
|
Pfam:P_proprotein
|
484 |
570 |
4.4e-32 |
PFAM |
|
FU
|
577 |
620 |
4.67e-5 |
SMART |
|
FU
|
638 |
681 |
2.13e-8 |
SMART |
|
transmembrane domain
|
713 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122232
AA Change: W539R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113370
Gene: ENSMUSG00000030530
AA Change: W539R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PDB:1KN6|A
|
27 |
107 |
4e-7 |
PDB |
|
Pfam:Peptidase_S8
|
148 |
436 |
3.2e-62 |
PFAM |
|
Pfam:P_proprotein
|
484 |
570 |
1.3e-33 |
PFAM |
|
FU
|
577 |
620 |
4.67e-5 |
SMART |
|
FU
|
638 |
681 |
2.13e-8 |
SMART |
|
transmembrane domain
|
713 |
735 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206352
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a calcium-dependent serine endoprotease that proteolytically activates different proprotein substrates traversing the secretory pathway. The encoded protein undergoes proteolytic autoactivation during which an N-terminal propeptide is cleaved to generate the mature protein. Mice lacking the encoded protein die at an embryonic stage and display hemodynamic insufficiency, cardiac ventral closure defect, axial rotation defect and abnormal yolk sac vasculature. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null embryos die at E10.5-E11.5. Embryos homozygous for one knock-out allele show multiple tissue abnormalities including abnormal yolk sac vasculature and chorioallantoic fusion, failure of axial rotation, a kinked neural tube, exencephaly and severe ventral closure and cardiac defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
| Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,165,689 (GRCm39) |
Y297C |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
| Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
| Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,404,856 (GRCm39) |
|
probably null |
Het |
| Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
| Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,907,119 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
| Yars2 |
T |
A |
16: 16,124,387 (GRCm39) |
H331Q |
possibly damaging |
Het |
| Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
probably benign |
Het |
|
| Other mutations in Furin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Furin
|
APN |
7 |
80,042,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00910:Furin
|
APN |
7 |
80,040,744 (GRCm39) |
missense |
probably benign |
|
|
IGL01701:Furin
|
APN |
7 |
80,040,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01701:Furin
|
APN |
7 |
80,042,240 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01921:Furin
|
APN |
7 |
80,045,702 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01981:Furin
|
APN |
7 |
80,042,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02035:Furin
|
APN |
7 |
80,040,735 (GRCm39) |
missense |
probably benign |
|
|
IGL02096:Furin
|
APN |
7 |
80,043,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Furin
|
APN |
7 |
80,042,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02611:Furin
|
APN |
7 |
80,041,526 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0359:Furin
|
UTSW |
7 |
80,041,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Furin
|
UTSW |
7 |
80,043,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Furin
|
UTSW |
7 |
80,041,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1346:Furin
|
UTSW |
7 |
80,041,932 (GRCm39) |
unclassified |
probably benign |
|
|
R1347:Furin
|
UTSW |
7 |
80,041,932 (GRCm39) |
unclassified |
probably benign |
|
|
R1373:Furin
|
UTSW |
7 |
80,041,932 (GRCm39) |
unclassified |
probably benign |
|
|
R1553:Furin
|
UTSW |
7 |
80,048,340 (GRCm39) |
splice site |
probably null |
|
|
R1693:Furin
|
UTSW |
7 |
80,042,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Furin
|
UTSW |
7 |
80,048,382 (GRCm39) |
splice site |
probably null |
|
|
R4687:Furin
|
UTSW |
7 |
80,043,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4869:Furin
|
UTSW |
7 |
80,046,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Furin
|
UTSW |
7 |
80,043,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Furin
|
UTSW |
7 |
80,047,603 (GRCm39) |
intron |
probably benign |
|
|
R6086:Furin
|
UTSW |
7 |
80,045,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Furin
|
UTSW |
7 |
80,043,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Furin
|
UTSW |
7 |
80,043,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Furin
|
UTSW |
7 |
80,040,838 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6954:Furin
|
UTSW |
7 |
80,046,712 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7396:Furin
|
UTSW |
7 |
80,047,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7510:Furin
|
UTSW |
7 |
80,043,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Furin
|
UTSW |
7 |
80,043,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Furin
|
UTSW |
7 |
80,046,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Furin
|
UTSW |
7 |
80,045,722 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7995:Furin
|
UTSW |
7 |
80,045,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Furin
|
UTSW |
7 |
80,048,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8389:Furin
|
UTSW |
7 |
80,040,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8451:Furin
|
UTSW |
7 |
80,048,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8691:Furin
|
UTSW |
7 |
80,041,775 (GRCm39) |
unclassified |
probably benign |
|
|
R8917:Furin
|
UTSW |
7 |
80,048,437 (GRCm39) |
missense |
probably benign |
|
|
R9282:Furin
|
UTSW |
7 |
80,040,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9380:Furin
|
UTSW |
7 |
80,041,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9786:Furin
|
UTSW |
7 |
80,040,645 (GRCm39) |
missense |
probably benign |
0.29 |
|
X0050:Furin
|
UTSW |
7 |
80,045,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCGTCCCTATTCCAGAGTTG -3'
(R):5'- TTGTGAAAAGTGTCCCCTGG -3'
Sequencing Primer
(F):5'- GCGTCCCTATTCCAGAGTTGATAAG -3'
(R):5'- TGTGAAAAGTGTCCCCTGGCTAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation