Incidental Mutation 'R0678:Serpina3i'
| ID |
61710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3i
|
| Ensembl Gene |
ENSMUSG00000079014 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3I |
| Synonyms |
alpha-1 antiproteinase, antitrypsin, 2B2, Gm6930 |
| MMRRC Submission |
038863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0678 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
104229381-104235631 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 104232978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109958]
|
| AlphaFold |
D3Z450 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109958
|
| SMART Domains |
Protein: ENSMUSP00000105584
Gene: ENSMUSG00000079014
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
46 |
407 |
8.45e-187 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109960
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Egfl7 |
C |
T |
2: 26,480,952 (GRCm39) |
R155C |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,843 (GRCm39) |
I912T |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| H2-T24 |
A |
T |
17: 36,328,333 (GRCm39) |
F50Y |
probably damaging |
Het |
| Hif1a |
A |
G |
12: 73,990,965 (GRCm39) |
|
probably null |
Het |
| Ints11 |
T |
C |
4: 155,972,210 (GRCm39) |
I405T |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,748,294 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,174,933 (GRCm39) |
V857D |
probably damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,113,287 (GRCm39) |
E321G |
probably benign |
Het |
| Rab11fip3 |
G |
A |
17: 26,287,821 (GRCm39) |
P111S |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,781,692 (GRCm39) |
I35N |
possibly damaging |
Het |
| Rnf31 |
C |
A |
14: 55,839,170 (GRCm39) |
Y66* |
probably null |
Het |
| Sec31a |
T |
C |
5: 100,555,084 (GRCm39) |
I45M |
possibly damaging |
Het |
| Sele |
T |
C |
1: 163,882,298 (GRCm39) |
|
probably null |
Het |
| Sp6 |
T |
A |
11: 96,912,607 (GRCm39) |
W107R |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,349 (GRCm39) |
W467R |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,387 (GRCm39) |
F935L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,948,412 (GRCm39) |
H492L |
probably benign |
Het |
| Xrcc2 |
A |
G |
5: 25,903,261 (GRCm39) |
S37P |
possibly damaging |
Het |
| Zfand1 |
T |
A |
3: 10,413,577 (GRCm39) |
I31L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,184,171 (GRCm39) |
D1058N |
probably damaging |
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 |
|
IGL02661:Serpina3i
|
APN |
12 |
104,231,515 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTGTGAAGGTGCCAATGATG -3'
(R):5'- TCGCTGTATTAGCATTCCCACACTG -3'
Sequencing Primer
(F):5'- TGAAAATAGAGGAACTAACTACACCC -3'
(R):5'- GCATGTAGTAGGTCTTCAAGTCAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation