Incidental Mutation 'R6327:Serpinf1'
| ID |
510482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinf1
|
| Ensembl Gene |
ENSMUSG00000000753 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade F, member 1 |
| Synonyms |
Pedf, EPC-1, Sdf3, pigment epithelium derived factor, Pedfl |
| MMRRC Submission |
044481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R6327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75300855-75313449 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 75304731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000769]
[ENSMUST00000125982]
[ENSMUST00000137103]
[ENSMUST00000138661]
[ENSMUST00000155009]
[ENSMUST00000168902]
|
| AlphaFold |
P97298 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000769
|
| SMART Domains |
Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
414 |
5.22e-128 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125982
|
| SMART Domains |
Protein: ENSMUSP00000126807
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Serpin
|
55 |
147 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137103
|
| SMART Domains |
Protein: ENSMUSP00000114761
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
210 |
7.93e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138661
|
| SMART Domains |
Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SERPIN
|
62 |
205 |
1.47e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155009
|
| SMART Domains |
Protein: ENSMUSP00000131531
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PDB:1IMV|A
|
27 |
64 |
2e-16 |
PDB |
|
SCOP:d1imva_
|
35 |
64 |
1e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167281
|
| SMART Domains |
Protein: ENSMUSP00000133230
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
1 |
122 |
7.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168902
|
| SMART Domains |
Protein: ENSMUSP00000131043
Gene: ENSMUSG00000000753
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9502 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
PHENOTYPE: Loss of function results in increased microvasculature, pancreatic enlargement, and prostatic hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
| C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
| Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
| Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
| Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
| Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
| Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
| Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
| Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
| Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
| Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
| Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
| Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly damaging |
Het |
|
| Other mutations in Serpinf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
clenched
|
UTSW |
11 |
75,304,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0306:Serpinf1
|
UTSW |
11 |
75,304,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Serpinf1
|
UTSW |
11 |
75,304,771 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1588:Serpinf1
|
UTSW |
11 |
75,301,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1720:Serpinf1
|
UTSW |
11 |
75,304,807 (GRCm39) |
missense |
probably null |
0.26 |
|
R1917:Serpinf1
|
UTSW |
11 |
75,301,833 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1961:Serpinf1
|
UTSW |
11 |
75,307,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4704:Serpinf1
|
UTSW |
11 |
75,301,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5138:Serpinf1
|
UTSW |
11 |
75,305,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Serpinf1
|
UTSW |
11 |
75,301,010 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7031:Serpinf1
|
UTSW |
11 |
75,301,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Serpinf1
|
UTSW |
11 |
75,308,811 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7436:Serpinf1
|
UTSW |
11 |
75,307,142 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8344:Serpinf1
|
UTSW |
11 |
75,306,397 (GRCm39) |
missense |
unknown |
|
|
R9297:Serpinf1
|
UTSW |
11 |
75,307,251 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9630:Serpinf1
|
UTSW |
11 |
75,301,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAACCCATTCTCGTGACCTTG -3'
(R):5'- AGGATGCTCCATCTGTTTCC -3'
Sequencing Primer
(F):5'- CCCTGGGAGAATGAGTTCTGATAAC -3'
(R):5'- CTTCCAGGGCAGTGGGTAAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation