Incidental Mutation 'R6619:Serpina3m'
| ID |
524298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpina3m
|
| Ensembl Gene |
ENSMUSG00000079012 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade A, member 3M |
| Synonyms |
Spi2.4, MMSPi2.4, Spi2-rs1, MMCM7, contrapsin-like, alpha-1 antiproteinase, Spi-2l, antitrypsin, Spi-2rs1, 3e46 |
| MMRRC Submission |
044742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104353424-104360518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104357766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 230
(Y230F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101078]
[ENSMUST00000168797]
|
| AlphaFold |
Q03734 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101078
AA Change: Y230F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: Y230F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168797
AA Change: Y230F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: Y230F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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 |
|---|
| Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
| Coro6 |
A |
G |
11: 77,357,030 (GRCm39) |
I111V |
possibly damaging |
Het |
| Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
| Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
| Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
| Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
| Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
| Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
| Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
| Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
| Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
| Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
| Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
| Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
| Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
| Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
probably damaging |
Het |
|
| Other mutations in Serpina3m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4976:Serpina3m
|
UTSW |
12 |
104,324,882 (GRCm39) |
splice site |
probably null |
|
|
R1797:Serpina3m
|
UTSW |
12 |
104,355,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Serpina3m
|
UTSW |
12 |
104,355,581 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1991:Serpina3m
|
UTSW |
12 |
104,355,958 (GRCm39) |
nonsense |
probably null |
|
|
R2032:Serpina3m
|
UTSW |
12 |
104,355,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2094:Serpina3m
|
UTSW |
12 |
104,355,529 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2103:Serpina3m
|
UTSW |
12 |
104,355,958 (GRCm39) |
nonsense |
probably null |
|
|
R2121:Serpina3m
|
UTSW |
12 |
104,355,941 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2147:Serpina3m
|
UTSW |
12 |
104,355,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2241:Serpina3m
|
UTSW |
12 |
104,355,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2330:Serpina3m
|
UTSW |
12 |
104,357,963 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4057:Serpina3m
|
UTSW |
12 |
104,357,996 (GRCm39) |
splice site |
probably benign |
|
|
R4275:Serpina3m
|
UTSW |
12 |
104,355,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4466:Serpina3m
|
UTSW |
12 |
104,357,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Serpina3m
|
UTSW |
12 |
104,355,908 (GRCm39) |
nonsense |
probably null |
|
|
R4924:Serpina3m
|
UTSW |
12 |
104,357,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Serpina3m
|
UTSW |
12 |
104,355,360 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5723:Serpina3m
|
UTSW |
12 |
104,360,170 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5836:Serpina3m
|
UTSW |
12 |
104,355,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6172:Serpina3m
|
UTSW |
12 |
104,355,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Serpina3m
|
UTSW |
12 |
104,355,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Serpina3m
|
UTSW |
12 |
104,355,386 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7063:Serpina3m
|
UTSW |
12 |
104,357,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7170:Serpina3m
|
UTSW |
12 |
104,355,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Serpina3m
|
UTSW |
12 |
104,355,834 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8222:Serpina3m
|
UTSW |
12 |
104,358,960 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8771:Serpina3m
|
UTSW |
12 |
104,357,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8853:Serpina3m
|
UTSW |
12 |
104,355,914 (GRCm39) |
missense |
probably benign |
|
|
R8913:Serpina3m
|
UTSW |
12 |
104,355,477 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9641:Serpina3m
|
UTSW |
12 |
104,360,085 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Serpina3m
|
UTSW |
12 |
104,359,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Serpina3m
|
UTSW |
12 |
104,355,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGCAGCTTGGTCAACTAC -3'
(R):5'- TGGTTGTAAGCTGGCTTCCAC -3'
Sequencing Primer
(F):5'- CATATGCTACAAGAAGGGACACTCTG -3'
(R):5'- GGCTTCCACCTGCTGCATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation