Incidental Mutation 'IGL02175:Serpina1d'
| ID |
283086 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina1d
|
| Ensembl Gene |
ENSMUSG00000071177 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 1D |
| Synonyms |
PI4, Spi1-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103729853-103739851 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 103731955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078869]
[ENSMUST00000164454]
|
| AlphaFold |
Q00897 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078869
|
| SMART Domains |
Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
| Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
| Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
| Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
| Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
| Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
| Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
| Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
| Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
| Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
| Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
| Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
| Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
| Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
| Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
| Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation