Incidental Mutation 'IGL02661:Serpina3i'
| ID |
302529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpina3i
|
| Ensembl Gene |
ENSMUSG00000079014 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3I |
| Synonyms |
alpha-1 antiproteinase, antitrypsin, 2B2, Gm6930 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02661
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
104229381-104235631 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 104231515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 51
(K51*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109958]
|
| AlphaFold |
D3Z450 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109958
AA Change: K51*
|
| SMART Domains |
Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
AA Change: K51*
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
407 |
8.45e-187 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109960
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
G |
T |
18: 52,793,566 (GRCm39) |
W33L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,572 (GRCm39) |
C358S |
probably damaging |
Het |
| Ak5 |
C |
A |
3: 152,169,593 (GRCm39) |
V561F |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,327 (GRCm39) |
D158G |
probably benign |
Het |
| Bard1 |
A |
G |
1: 71,114,469 (GRCm39) |
S171P |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,984,135 (GRCm39) |
Y534* |
probably null |
Het |
| Clcn4 |
A |
T |
7: 7,294,730 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,124,887 (GRCm39) |
T4A |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,157,084 (GRCm39) |
|
probably benign |
Het |
| Dtl |
G |
T |
1: 191,273,483 (GRCm39) |
T475N |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,835,314 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,515,566 (GRCm39) |
S251P |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,110,834 (GRCm39) |
V14E |
probably benign |
Het |
| Ggcx |
C |
T |
6: 72,395,343 (GRCm39) |
P145S |
possibly damaging |
Het |
| Gm13889 |
G |
A |
2: 93,787,024 (GRCm39) |
T150I |
probably benign |
Het |
| Gm4978 |
C |
A |
9: 69,358,180 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,762,821 (GRCm39) |
D850G |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,251 (GRCm39) |
I97V |
probably benign |
Het |
| Ighv1-4 |
T |
G |
12: 114,450,850 (GRCm39) |
K86T |
probably damaging |
Het |
| Ints4 |
C |
A |
7: 97,144,912 (GRCm39) |
L175I |
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,005,140 (GRCm39) |
V1144G |
probably benign |
Het |
| Kpna3 |
T |
A |
14: 61,610,398 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,044,766 (GRCm39) |
D371G |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,718,902 (GRCm39) |
L305P |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,774,895 (GRCm39) |
V2139G |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,830,321 (GRCm39) |
|
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,405 (GRCm39) |
Q253R |
possibly damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,647 (GRCm39) |
A289S |
probably benign |
Het |
| Or4k35 |
T |
A |
2: 111,099,811 (GRCm39) |
R300S |
possibly damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,827,413 (GRCm39) |
I474K |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,169,248 (GRCm39) |
I798F |
probably damaging |
Het |
| Pon3 |
T |
A |
6: 5,256,205 (GRCm39) |
T8S |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,689 (GRCm39) |
T2525A |
possibly damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,273 (GRCm39) |
V180G |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,114,778 (GRCm39) |
C712* |
probably null |
Het |
| Scamp2 |
T |
C |
9: 57,494,697 (GRCm39) |
|
probably benign |
Het |
| Smyd4 |
C |
A |
11: 75,281,767 (GRCm39) |
C413* |
probably null |
Het |
| Spata2 |
C |
T |
2: 167,325,281 (GRCm39) |
V513M |
probably damaging |
Het |
| Sri |
T |
A |
5: 8,113,252 (GRCm39) |
|
probably benign |
Het |
| Urah |
A |
T |
7: 140,417,618 (GRCm39) |
K119M |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,403,151 (GRCm39) |
T1005I |
probably benign |
Het |
|
| Other mutations in Serpina3i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00658:Serpina3i
|
APN |
12 |
104,231,429 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01311:Serpina3i
|
APN |
12 |
104,233,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02819:Serpina3i
|
APN |
12 |
104,234,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Serpina3i
|
UTSW |
12 |
104,231,423 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4431001:Serpina3i
|
UTSW |
12 |
104,231,432 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0091:Serpina3i
|
UTSW |
12 |
104,231,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0678:Serpina3i
|
UTSW |
12 |
104,232,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1624:Serpina3i
|
UTSW |
12 |
104,234,897 (GRCm39) |
makesense |
probably null |
|
|
R4604:Serpina3i
|
UTSW |
12 |
104,234,036 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4814:Serpina3i
|
UTSW |
12 |
104,231,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Serpina3i
|
UTSW |
12 |
104,231,914 (GRCm39) |
missense |
probably benign |
|
|
R5464:Serpina3i
|
UTSW |
12 |
104,234,751 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5504:Serpina3i
|
UTSW |
12 |
104,232,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Serpina3i
|
UTSW |
12 |
104,231,759 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5828:Serpina3i
|
UTSW |
12 |
104,231,474 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5922:Serpina3i
|
UTSW |
12 |
104,232,766 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6194:Serpina3i
|
UTSW |
12 |
104,232,762 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6235:Serpina3i
|
UTSW |
12 |
104,232,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Serpina3i
|
UTSW |
12 |
104,232,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Serpina3i
|
UTSW |
12 |
104,232,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7993:Serpina3i
|
UTSW |
12 |
104,231,407 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8437:Serpina3i
|
UTSW |
12 |
104,231,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Serpina3i
|
UTSW |
12 |
104,231,387 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9157:Serpina3i
|
UTSW |
12 |
104,231,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Serpina3i
|
UTSW |
12 |
104,231,728 (GRCm39) |
nonsense |
probably null |
|
|
R9303:Serpina3i
|
UTSW |
12 |
104,234,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9305:Serpina3i
|
UTSW |
12 |
104,234,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9313:Serpina3i
|
UTSW |
12 |
104,231,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Serpina3i
|
UTSW |
12 |
104,234,730 (GRCm39) |
missense |
probably benign |
|
|
R9572:Serpina3i
|
UTSW |
12 |
104,234,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Serpina3i
|
UTSW |
12 |
104,234,730 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Serpina3i
|
UTSW |
12 |
104,233,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation