Incidental Mutation 'R7063:Serpina3m'
ID |
548408 |
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 |
045159-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R7063 (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 104357726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 217
(I217L)
|
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: I217L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000098639 Gene: ENSMUSG00000079012 AA Change: I217L
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: I217L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130979 Gene: ENSMUSG00000079012 AA Change: I217L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
A |
G |
7: 16,299,038 (GRCm39) |
V9A |
probably benign |
Het |
Btbd6 |
A |
G |
12: 112,941,132 (GRCm39) |
Y148C |
probably damaging |
Het |
Casr |
T |
C |
16: 36,314,936 (GRCm39) |
I968V |
probably benign |
Het |
Celf1 |
T |
C |
2: 90,843,189 (GRCm39) |
|
probably null |
Het |
Chst2 |
G |
T |
9: 95,287,621 (GRCm39) |
R242S |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,460,967 (GRCm39) |
D228V |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,430,532 (GRCm39) |
Y288C |
probably benign |
Het |
Cyp2r1 |
A |
G |
7: 114,152,184 (GRCm39) |
S49P |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,233,394 (GRCm39) |
E251G |
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,394,332 (GRCm39) |
R199G |
possibly damaging |
Het |
Fat1 |
C |
T |
8: 45,493,812 (GRCm39) |
T3986I |
probably benign |
Het |
Gbp4 |
G |
A |
5: 105,266,314 (GRCm39) |
R576C |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm6408 |
T |
C |
5: 146,420,594 (GRCm39) |
I158T |
probably benign |
Het |
Gpr89 |
C |
G |
3: 96,783,014 (GRCm39) |
R312P |
probably damaging |
Het |
Idh2 |
A |
G |
7: 79,745,432 (GRCm39) |
V403A |
probably damaging |
Het |
Lclat1 |
A |
G |
17: 73,546,986 (GRCm39) |
E301G |
possibly damaging |
Het |
Lgmn |
A |
G |
12: 102,368,937 (GRCm39) |
Y181H |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,292,639 (GRCm39) |
Y417C |
probably damaging |
Het |
Man1a |
G |
T |
10: 53,906,840 (GRCm39) |
N311K |
probably damaging |
Het |
Nat10 |
G |
A |
2: 103,578,422 (GRCm39) |
L228F |
probably benign |
Het |
Or10d3 |
T |
G |
9: 39,461,411 (GRCm39) |
Y252S |
possibly damaging |
Het |
Or10v5 |
A |
G |
19: 11,805,548 (GRCm39) |
F281L |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,449 (GRCm39) |
D68G |
probably damaging |
Het |
Or5p55 |
C |
A |
7: 107,567,411 (GRCm39) |
A269E |
probably benign |
Het |
Pcmtd2 |
T |
A |
2: 181,496,776 (GRCm39) |
Y130* |
probably null |
Het |
Potefam3f |
G |
A |
8: 20,479,013 (GRCm39) |
C7Y |
|
Het |
Qrfprl |
A |
G |
6: 65,418,387 (GRCm39) |
|
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,652,864 (GRCm39) |
D62G |
possibly damaging |
Het |
Supt16 |
T |
C |
14: 52,409,505 (GRCm39) |
R802G |
possibly damaging |
Het |
Sypl2 |
A |
T |
3: 108,124,971 (GRCm39) |
M130K |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,184,386 (GRCm39) |
L503Q |
probably damaging |
Het |
Ubald2 |
A |
G |
11: 116,325,443 (GRCm39) |
Q60R |
probably benign |
Het |
Vav1 |
C |
T |
17: 57,618,860 (GRCm39) |
Q673* |
probably null |
Het |
Vgll2 |
T |
C |
10: 51,904,072 (GRCm39) |
S312P |
probably benign |
Het |
Vmn1r191 |
C |
T |
13: 22,362,864 (GRCm39) |
A297T |
probably benign |
Het |
Vmn1r7 |
T |
A |
6: 57,001,418 (GRCm39) |
I281F |
possibly damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,701,410 (GRCm39) |
Y30C |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,511,650 (GRCm39) |
N619S |
probably damaging |
Het |
Vstm5 |
A |
G |
9: 15,150,549 (GRCm39) |
|
probably benign |
Het |
Zfp7 |
A |
G |
15: 76,775,919 (GRCm39) |
I654V |
possibly damaging |
Het |
Zmat2 |
A |
G |
18: 36,929,627 (GRCm39) |
N129S |
probably null |
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 |
R6619:Serpina3m
|
UTSW |
12 |
104,357,766 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
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'- GCTAGCAGCTTGGTCAACTACC -3'
(R):5'- GGTTGTAAGCTGGCTTCCAC -3'
Sequencing Primer
(F):5'- AAGGGACACTCTGAGTGA -3'
(R):5'- TGCATCCTGCCCTGGTCAG -3'
|
Posted On |
2019-05-13 |