Incidental Mutation 'R5672:Serpina1d'
| ID |
442687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina1d
|
| Ensembl Gene |
ENSMUSG00000071177 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 1D |
| Synonyms |
PI4, Spi1-4 |
| MMRRC Submission |
043174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5672 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
103729853-103739851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 103730101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 360
(D360E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078869]
[ENSMUST00000164454]
|
| AlphaFold |
Q00897 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078869
AA Change: D360E
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: D360E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
|
SERPIN
|
53 |
410 |
3.17e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164454
|
| SMART Domains |
Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
53 |
410 |
7.62e-203 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
| Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
| Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
| Cfap68 |
T |
C |
9: 50,675,227 (GRCm39) |
T67A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
| Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
| Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
| Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
| Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
| Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
| Pop1 |
A |
G |
15: 34,530,325 (GRCm39) |
K908E |
possibly damaging |
Het |
| Pten |
A |
G |
19: 32,735,866 (GRCm39) |
I8V |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,596,968 (GRCm39) |
A436V |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,223,582 (GRCm39) |
D258G |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
| Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
| Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
| Vmn1r181 |
A |
C |
7: 23,683,741 (GRCm39) |
T69P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
Het |
|
| Other mutations in Serpina1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Serpina1d
|
APN |
12 |
103,729,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02175:Serpina1d
|
APN |
12 |
103,731,955 (GRCm39) |
splice site |
probably null |
|
|
IGL02336:Serpina1d
|
APN |
12 |
103,731,055 (GRCm39) |
nonsense |
probably null |
|
|
IGL03260:Serpina1d
|
APN |
12 |
103,730,108 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB008:Serpina1d
|
UTSW |
12 |
103,733,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB018:Serpina1d
|
UTSW |
12 |
103,733,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Serpina1d
|
UTSW |
12 |
103,732,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Serpina1d
|
UTSW |
12 |
103,732,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Serpina1d
|
UTSW |
12 |
103,730,034 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0499:Serpina1d
|
UTSW |
12 |
103,732,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1086:Serpina1d
|
UTSW |
12 |
103,730,046 (GRCm39) |
missense |
probably benign |
|
|
R1864:Serpina1d
|
UTSW |
12 |
103,734,256 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1883:Serpina1d
|
UTSW |
12 |
103,732,037 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1884:Serpina1d
|
UTSW |
12 |
103,732,037 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3731:Serpina1d
|
UTSW |
12 |
103,734,164 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3973:Serpina1d
|
UTSW |
12 |
103,734,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3976:Serpina1d
|
UTSW |
12 |
103,734,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4227:Serpina1d
|
UTSW |
12 |
103,733,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4783:Serpina1d
|
UTSW |
12 |
103,734,083 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5764:Serpina1d
|
UTSW |
12 |
103,732,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6244:Serpina1d
|
UTSW |
12 |
103,731,087 (GRCm39) |
splice site |
probably null |
|
|
R6314:Serpina1d
|
UTSW |
12 |
103,730,959 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6548:Serpina1d
|
UTSW |
12 |
103,733,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Serpina1d
|
UTSW |
12 |
103,731,062 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6953:Serpina1d
|
UTSW |
12 |
103,733,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7106:Serpina1d
|
UTSW |
12 |
103,731,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7390:Serpina1d
|
UTSW |
12 |
103,734,037 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7931:Serpina1d
|
UTSW |
12 |
103,733,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8085:Serpina1d
|
UTSW |
12 |
103,730,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Serpina1d
|
UTSW |
12 |
103,734,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9473:Serpina1d
|
UTSW |
12 |
103,729,939 (GRCm39) |
makesense |
probably null |
|
|
R9667:Serpina1d
|
UTSW |
12 |
103,734,299 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTGTGTTTAATGAAGGGAAC -3'
(R):5'- TCACTGTGAAAGGGGTCTGG -3'
Sequencing Primer
(F):5'- AAGGATGACTTCTTAGGGTGGTC -3'
(R):5'- TCTGGGGGAAGAGCAGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation