Incidental Mutation 'R5464:Serpinb3c'
ID |
433135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb3c
|
Ensembl Gene |
ENSMUSG00000073601 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 3C |
Synonyms |
ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2 |
MMRRC Submission |
042850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R5464 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
107198931-107206101 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 107199434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 362
(D362E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027565]
[ENSMUST00000166100]
|
AlphaFold |
A2RSF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027565
AA Change: D362E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027565 Gene: ENSMUSG00000073601 AA Change: D362E
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
386 |
7.91e-169 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166100
|
SMART Domains |
Protein: ENSMUSP00000132370 Gene: ENSMUSG00000073602
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
387 |
4.75e-181 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
Acsl1 |
T |
A |
8: 46,958,775 (GRCm39) |
D95E |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adamts16 |
T |
A |
13: 70,909,868 (GRCm39) |
H895L |
probably benign |
Het |
Alox12e |
T |
C |
11: 70,208,505 (GRCm39) |
Y483C |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,733,381 (GRCm39) |
F952I |
probably damaging |
Het |
Crot |
T |
G |
5: 9,033,690 (GRCm39) |
|
probably null |
Het |
Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
Eps8 |
C |
T |
6: 137,504,473 (GRCm39) |
G87R |
probably damaging |
Het |
Flg2 |
C |
A |
3: 93,109,277 (GRCm39) |
T435K |
possibly damaging |
Het |
Gpatch4 |
T |
C |
3: 87,962,062 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
A |
13: 12,448,524 (GRCm39) |
M1795K |
probably benign |
Het |
Ift52 |
T |
C |
2: 162,871,735 (GRCm39) |
V189A |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,878,058 (GRCm39) |
D250V |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,622 (GRCm39) |
T474A |
probably benign |
Het |
Mcub |
T |
C |
3: 129,709,365 (GRCm39) |
E316G |
probably benign |
Het |
Mettl15 |
C |
T |
2: 109,021,967 (GRCm39) |
V113I |
probably benign |
Het |
Mroh8 |
T |
A |
2: 157,063,150 (GRCm39) |
I824F |
probably damaging |
Het |
Mrpl19 |
A |
G |
6: 81,938,992 (GRCm39) |
M270T |
probably damaging |
Het |
Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
Or10d4 |
A |
T |
9: 39,581,066 (GRCm39) |
T238S |
probably damaging |
Het |
Or4ac1-ps1 |
T |
C |
2: 88,370,599 (GRCm39) |
Y58C |
probably null |
Het |
Or51a25 |
A |
G |
7: 102,373,124 (GRCm39) |
V191A |
possibly damaging |
Het |
Or51a39 |
T |
C |
7: 102,362,889 (GRCm39) |
T244A |
probably benign |
Het |
Or51a43 |
C |
A |
7: 103,717,674 (GRCm39) |
R188L |
possibly damaging |
Het |
Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
Or52a24 |
T |
A |
7: 103,381,396 (GRCm39) |
W88R |
probably damaging |
Het |
Or5ak23 |
AAGTCTGGAGTC |
AAGTC |
2: 85,245,057 (GRCm39) |
|
probably null |
Het |
Or6x1 |
T |
C |
9: 40,099,080 (GRCm39) |
I223T |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,197,235 (GRCm39) |
M430V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,278,176 (GRCm39) |
S243P |
probably damaging |
Het |
Ppp1r36 |
A |
T |
12: 76,474,852 (GRCm39) |
|
probably null |
Het |
Prdm16 |
T |
A |
4: 154,430,601 (GRCm39) |
|
probably null |
Het |
Prss36 |
A |
T |
7: 127,533,405 (GRCm39) |
W97R |
probably damaging |
Het |
Psmg4 |
A |
T |
13: 34,362,047 (GRCm39) |
I112F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,499,868 (GRCm39) |
G1259R |
probably damaging |
Het |
Rsph4a |
T |
C |
10: 33,785,337 (GRCm39) |
I416T |
possibly damaging |
Het |
Scn2a |
C |
T |
2: 65,532,100 (GRCm39) |
R571C |
probably damaging |
Het |
Selenbp1 |
A |
G |
3: 94,851,727 (GRCm39) |
M423V |
probably benign |
Het |
Serpina3i |
G |
A |
12: 104,234,751 (GRCm39) |
A361T |
possibly damaging |
Het |
Sf3a3 |
T |
C |
4: 124,622,033 (GRCm39) |
|
probably null |
Het |
Sgcg |
A |
G |
14: 61,474,304 (GRCm39) |
V113A |
possibly damaging |
Het |
Slc3a2 |
T |
C |
19: 8,691,008 (GRCm39) |
K74R |
probably damaging |
Het |
Smco1 |
T |
A |
16: 32,092,694 (GRCm39) |
W122R |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,339,269 (GRCm39) |
K136E |
possibly damaging |
Het |
Trim32 |
A |
G |
4: 65,532,625 (GRCm39) |
N394S |
probably damaging |
Het |
Uqcrb |
T |
C |
13: 67,048,889 (GRCm39) |
D87G |
probably damaging |
Het |
Wipf3 |
T |
C |
6: 54,462,308 (GRCm39) |
S173P |
possibly damaging |
Het |
Zfp473 |
T |
C |
7: 44,382,062 (GRCm39) |
E756G |
probably damaging |
Het |
|
Other mutations in Serpinb3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00847:Serpinb3c
|
APN |
1 |
107,203,990 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01349:Serpinb3c
|
APN |
1 |
107,200,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01730:Serpinb3c
|
APN |
1 |
107,200,914 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01732:Serpinb3c
|
APN |
1 |
107,199,702 (GRCm39) |
missense |
probably benign |
|
IGL02184:Serpinb3c
|
APN |
1 |
107,199,648 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02742:Serpinb3c
|
APN |
1 |
107,200,872 (GRCm39) |
nonsense |
probably null |
|
IGL03131:Serpinb3c
|
APN |
1 |
107,199,457 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03394:Serpinb3c
|
APN |
1 |
107,199,603 (GRCm39) |
missense |
probably benign |
0.00 |
BB001:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
BB011:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R0207:Serpinb3c
|
UTSW |
1 |
107,204,722 (GRCm39) |
missense |
probably benign |
0.02 |
R0508:Serpinb3c
|
UTSW |
1 |
107,204,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R1542:Serpinb3c
|
UTSW |
1 |
107,200,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Serpinb3c
|
UTSW |
1 |
107,199,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Serpinb3c
|
UTSW |
1 |
107,199,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R2012:Serpinb3c
|
UTSW |
1 |
107,199,574 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5361:Serpinb3c
|
UTSW |
1 |
107,204,661 (GRCm39) |
nonsense |
probably null |
|
R5636:Serpinb3c
|
UTSW |
1 |
107,202,744 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5677:Serpinb3c
|
UTSW |
1 |
107,199,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R5965:Serpinb3c
|
UTSW |
1 |
107,204,653 (GRCm39) |
missense |
probably benign |
0.01 |
R6424:Serpinb3c
|
UTSW |
1 |
107,199,359 (GRCm39) |
makesense |
probably null |
|
R7132:Serpinb3c
|
UTSW |
1 |
107,204,681 (GRCm39) |
missense |
probably damaging |
0.96 |
R7161:Serpinb3c
|
UTSW |
1 |
107,200,892 (GRCm39) |
missense |
probably null |
1.00 |
R7319:Serpinb3c
|
UTSW |
1 |
107,200,817 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7437:Serpinb3c
|
UTSW |
1 |
107,199,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Serpinb3c
|
UTSW |
1 |
107,200,883 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7922:Serpinb3c
|
UTSW |
1 |
107,199,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R7924:Serpinb3c
|
UTSW |
1 |
107,200,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8114:Serpinb3c
|
UTSW |
1 |
107,204,034 (GRCm39) |
missense |
probably benign |
0.03 |
R8189:Serpinb3c
|
UTSW |
1 |
107,204,039 (GRCm39) |
missense |
probably benign |
0.00 |
R8384:Serpinb3c
|
UTSW |
1 |
107,199,697 (GRCm39) |
missense |
probably benign |
0.02 |
R9042:Serpinb3c
|
UTSW |
1 |
107,199,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R9518:Serpinb3c
|
UTSW |
1 |
107,200,468 (GRCm39) |
missense |
probably damaging |
0.99 |
R9566:Serpinb3c
|
UTSW |
1 |
107,200,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATAGAGCTATCCTGGCCC -3'
(R):5'- TGCCTTTGATCCACAGAAGG -3'
Sequencing Primer
(F):5'- GGCCCAACTAATGCATTCTTAG -3'
(R):5'- TTTGATCCACAGAAGGCTGAC -3'
|
Posted On |
2016-10-06 |