Incidental Mutation 'R4466:Serpina3m'
| ID |
330363 |
| 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 |
041723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4466 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
104353424-104360518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104357874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 266
(Y266F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101078]
[ENSMUST00000168797]
|
| AlphaFold |
Q03734 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101078
AA Change: Y266F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098639
Gene: ENSMUSG00000079012
AA Change: Y266F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168797
AA Change: Y266F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130979
Gene: ENSMUSG00000079012
AA Change: Y266F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SERPIN
|
56 |
417 |
3.12e-199 |
SMART |
|
| Meta Mutation Damage Score |
0.5063 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
| Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
| Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
| Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
| Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
| Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
| Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
| Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
| Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
| Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
| Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
| Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
| Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
| Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
| Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
| Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
| Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
| Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
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 |
|
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 |
|
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'- GCCTCATCTTTAGGCAAATGG -3'
(R):5'- GGGATTGCCTACCATTACAAAGG -3'
Sequencing Primer
(F):5'- GGAAGATATCCTTTGACCCCCAGG -3'
(R):5'- TACTAGTGAGACTCTGAGGTACAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation