Incidental Mutation 'R3760:Serpinb3d'
| ID |
270492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb3d
|
| Ensembl Gene |
ENSMUSG00000058017 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D |
| Synonyms |
|
| MMRRC Submission |
040740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
107005893-107011210 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 107009304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023861]
|
| AlphaFold |
Q6UKZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023861
|
| SMART Domains |
Protein: ENSMUSP00000023861
Gene: ENSMUSG00000058017
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
387 |
2.44e-169 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,522,871 (GRCm39) |
E1448G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ell2 |
A |
T |
13: 75,910,281 (GRCm39) |
Q163L |
probably benign |
Het |
| Epha6 |
T |
A |
16: 60,041,347 (GRCm39) |
T423S |
possibly damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Gpr83 |
A |
T |
9: 14,772,034 (GRCm39) |
T69S |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,818,154 (GRCm39) |
M342K |
probably damaging |
Het |
| H3c7 |
T |
C |
13: 23,728,985 (GRCm39) |
C111R |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,817,978 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 192,188,332 (GRCm39) |
L931P |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,478,077 (GRCm39) |
S470T |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,152,027 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,919,406 (GRCm39) |
L6213P |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,250 (GRCm39) |
L212P |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,488,232 (GRCm39) |
S190L |
possibly damaging |
Het |
| Pcnx4 |
C |
T |
12: 72,613,780 (GRCm39) |
T575M |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,100,595 (GRCm39) |
D348G |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,520,420 (GRCm39) |
N730S |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,794,655 (GRCm39) |
T705A |
possibly damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,492,054 (GRCm39) |
I50T |
probably damaging |
Het |
| Taf13 |
T |
C |
3: 108,485,424 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,599,700 (GRCm39) |
E562V |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,331 (GRCm39) |
S302P |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,058,964 (GRCm39) |
L1036Q |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,932 (GRCm39) |
S71T |
probably damaging |
Het |
| Vmn2r-ps158 |
G |
A |
7: 42,673,502 (GRCm39) |
E187K |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,179,162 (GRCm39) |
F200L |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,686 (GRCm39) |
H909R |
possibly damaging |
Het |
|
| Other mutations in Serpinb3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01582:Serpinb3d
|
APN |
1 |
107,007,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01917:Serpinb3d
|
APN |
1 |
107,007,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Serpinb3d
|
APN |
1 |
107,010,526 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02988:Serpinb3d
|
UTSW |
1 |
107,006,266 (GRCm39) |
missense |
probably benign |
|
|
R0540:Serpinb3d
|
UTSW |
1 |
107,006,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0594:Serpinb3d
|
UTSW |
1 |
107,007,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Serpinb3d
|
UTSW |
1 |
107,008,481 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1668:Serpinb3d
|
UTSW |
1 |
107,008,481 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1905:Serpinb3d
|
UTSW |
1 |
107,007,014 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1994:Serpinb3d
|
UTSW |
1 |
107,008,518 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2021:Serpinb3d
|
UTSW |
1 |
107,006,182 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2022:Serpinb3d
|
UTSW |
1 |
107,006,182 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4118:Serpinb3d
|
UTSW |
1 |
107,006,960 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4496:Serpinb3d
|
UTSW |
1 |
107,007,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4770:Serpinb3d
|
UTSW |
1 |
107,006,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Serpinb3d
|
UTSW |
1 |
107,005,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Serpinb3d
|
UTSW |
1 |
107,006,228 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5434:Serpinb3d
|
UTSW |
1 |
107,006,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5813:Serpinb3d
|
UTSW |
1 |
107,007,027 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5820:Serpinb3d
|
UTSW |
1 |
107,006,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5935:Serpinb3d
|
UTSW |
1 |
107,011,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6056:Serpinb3d
|
UTSW |
1 |
107,007,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Serpinb3d
|
UTSW |
1 |
107,006,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6188:Serpinb3d
|
UTSW |
1 |
107,006,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6247:Serpinb3d
|
UTSW |
1 |
107,010,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6369:Serpinb3d
|
UTSW |
1 |
107,008,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6476:Serpinb3d
|
UTSW |
1 |
107,011,071 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7178:Serpinb3d
|
UTSW |
1 |
107,008,506 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7743:Serpinb3d
|
UTSW |
1 |
107,007,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7765:Serpinb3d
|
UTSW |
1 |
107,007,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Serpinb3d
|
UTSW |
1 |
107,008,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTTTGTACAATCCAGTGAG -3'
(R):5'- AAAAGTGGTCTTTGCAAGAGTTTGG -3'
Sequencing Primer
(F):5'- GTACAATCCAGTGAGTTAGACTTTTG -3'
(R):5'- TGCAAGAGTTTGGTGTTTATTTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation