Incidental Mutation 'R6554:Serpina1d'
| ID |
521867 |
| 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 |
044679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103729853-103739851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103731062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 305
(H305Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078869]
[ENSMUST00000164454]
|
| AlphaFold |
Q00897 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078869
AA Change: H305Q
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
AA Change: H305Q
| 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 |
|
| Meta Mutation Damage Score |
0.4798 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,618,246 (GRCm39) |
R180C |
probably damaging |
Het |
| B3galt9 |
C |
A |
2: 34,729,276 (GRCm39) |
S358R |
probably benign |
Het |
| Ces1b |
C |
A |
8: 93,791,619 (GRCm39) |
V327L |
probably benign |
Het |
| Cps1 |
C |
T |
1: 67,213,628 (GRCm39) |
R787* |
probably null |
Het |
| Dmrt2 |
C |
T |
19: 25,655,312 (GRCm39) |
P304S |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,557,346 (GRCm39) |
D429G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,616,282 (GRCm39) |
M3111K |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,037,699 (GRCm39) |
V3393A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,517,063 (GRCm39) |
D1007G |
possibly damaging |
Het |
| Flt3 |
A |
C |
5: 147,312,545 (GRCm39) |
L132W |
probably damaging |
Het |
| Gm14322 |
G |
A |
2: 177,410,220 (GRCm39) |
S60N |
possibly damaging |
Het |
| Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
| Kcnj16 |
T |
A |
11: 110,916,131 (GRCm39) |
Y264* |
probably null |
Het |
| Klkb1 |
T |
A |
8: 45,726,591 (GRCm39) |
I471F |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,914 (GRCm39) |
T207A |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,862,428 (GRCm39) |
T32S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,430,645 (GRCm39) |
D234G |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,454,279 (GRCm39) |
T218A |
possibly damaging |
Het |
| Nsd3 |
A |
T |
8: 26,152,891 (GRCm39) |
E410D |
probably damaging |
Het |
| Or4g17 |
C |
T |
2: 111,209,504 (GRCm39) |
S53F |
possibly damaging |
Het |
| Or5aq7 |
A |
T |
2: 86,937,970 (GRCm39) |
S254T |
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,838 (GRCm39) |
Y3364C |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Skic8 |
A |
T |
9: 54,634,929 (GRCm39) |
I88N |
probably damaging |
Het |
| Skint8 |
G |
A |
4: 111,784,413 (GRCm39) |
C13Y |
probably benign |
Het |
| Smc4 |
G |
A |
3: 68,936,848 (GRCm39) |
V863I |
probably benign |
Het |
| Spdl1 |
T |
G |
11: 34,713,397 (GRCm39) |
N224T |
possibly damaging |
Het |
| Sprr1b |
T |
G |
3: 92,344,420 (GRCm39) |
Q152P |
possibly damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,405 (GRCm39) |
N192S |
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,445,903 (GRCm39) |
N96S |
probably damaging |
Het |
| Tbccd1 |
A |
T |
16: 22,640,874 (GRCm39) |
I501K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,942,285 (GRCm39) |
I293T |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,926,139 (GRCm39) |
E548G |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,239,178 (GRCm39) |
D85G |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,887,524 (GRCm39) |
V496E |
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 |
|
R5672:Serpina1d
|
UTSW |
12 |
103,730,101 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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'- CAGTCACACAGGACATCAGG -3'
(R):5'- GTTGAGCTTTGAAATCCCACTG -3'
Sequencing Primer
(F):5'- ATCAGGACATTGCCATGGTC -3'
(R):5'- TCTGCTGGAAGGTTACAATAGAAAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation