Incidental Mutation 'R5149:Serpinb6e'
ID |
395265 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb6e
|
Ensembl Gene |
ENSMUSG00000069248 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6e |
Synonyms |
Gm11396, ovalbumin, SPI3B |
MMRRC Submission |
042732-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5149 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
34016328-34027391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34016468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 422
(F422L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110275]
|
AlphaFold |
I7HJI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110275
AA Change: F422L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105904 Gene: ENSMUSG00000069248 AA Change: F422L
Domain | Start | End | E-Value | Type |
SERPIN
|
65 |
429 |
4.43e-149 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
Amt |
G |
A |
9: 108,178,650 (GRCm39) |
V389I |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
Larp7 |
C |
T |
3: 127,334,460 (GRCm39) |
E510K |
probably damaging |
Het |
Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
Papln |
A |
T |
12: 83,818,656 (GRCm39) |
|
probably null |
Het |
Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
Tmem132b |
A |
G |
5: 125,699,989 (GRCm39) |
S176G |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
probably damaging |
Het |
|
Other mutations in Serpinb6e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02501:Serpinb6e
|
APN |
13 |
34,016,785 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03174:Serpinb6e
|
APN |
13 |
34,020,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R0018:Serpinb6e
|
UTSW |
13 |
34,021,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R0145:Serpinb6e
|
UTSW |
13 |
34,025,043 (GRCm39) |
missense |
probably benign |
0.30 |
R0592:Serpinb6e
|
UTSW |
13 |
34,025,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R0733:Serpinb6e
|
UTSW |
13 |
34,025,201 (GRCm39) |
missense |
probably benign |
|
R1347:Serpinb6e
|
UTSW |
13 |
34,025,180 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1347:Serpinb6e
|
UTSW |
13 |
34,025,180 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1651:Serpinb6e
|
UTSW |
13 |
34,020,406 (GRCm39) |
missense |
probably benign |
0.00 |
R1822:Serpinb6e
|
UTSW |
13 |
34,017,217 (GRCm39) |
missense |
probably damaging |
0.96 |
R2031:Serpinb6e
|
UTSW |
13 |
34,021,733 (GRCm39) |
unclassified |
probably benign |
|
R3740:Serpinb6e
|
UTSW |
13 |
34,022,943 (GRCm39) |
missense |
probably benign |
0.09 |
R4549:Serpinb6e
|
UTSW |
13 |
34,017,214 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4658:Serpinb6e
|
UTSW |
13 |
34,025,299 (GRCm39) |
start gained |
probably benign |
|
R5736:Serpinb6e
|
UTSW |
13 |
34,016,753 (GRCm39) |
missense |
probably damaging |
0.96 |
R6060:Serpinb6e
|
UTSW |
13 |
34,025,256 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6212:Serpinb6e
|
UTSW |
13 |
34,025,220 (GRCm39) |
missense |
probably damaging |
0.99 |
R6335:Serpinb6e
|
UTSW |
13 |
34,021,805 (GRCm39) |
missense |
probably benign |
0.44 |
R6818:Serpinb6e
|
UTSW |
13 |
34,016,337 (GRCm39) |
splice site |
probably null |
|
R7089:Serpinb6e
|
UTSW |
13 |
34,016,698 (GRCm39) |
missense |
probably damaging |
0.99 |
R7151:Serpinb6e
|
UTSW |
13 |
34,021,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R7263:Serpinb6e
|
UTSW |
13 |
34,022,923 (GRCm39) |
missense |
probably benign |
0.03 |
R7528:Serpinb6e
|
UTSW |
13 |
34,016,474 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7944:Serpinb6e
|
UTSW |
13 |
34,016,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R8789:Serpinb6e
|
UTSW |
13 |
34,017,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R8792:Serpinb6e
|
UTSW |
13 |
34,022,942 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8794:Serpinb6e
|
UTSW |
13 |
34,024,977 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8944:Serpinb6e
|
UTSW |
13 |
34,017,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R8967:Serpinb6e
|
UTSW |
13 |
34,020,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8989:Serpinb6e
|
UTSW |
13 |
34,022,967 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9167:Serpinb6e
|
UTSW |
13 |
34,023,009 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9310:Serpinb6e
|
UTSW |
13 |
34,017,204 (GRCm39) |
missense |
probably benign |
|
Z1177:Serpinb6e
|
UTSW |
13 |
34,025,221 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAACATGGATGAGCACTG -3'
(R):5'- ATTTCTGTCCAATGTTGTGCAC -3'
Sequencing Primer
(F):5'- TCAGATCTTAAATCCTCCCATGAG -3'
(R):5'- CTGTCCAATGTTGTGCACAAAAG -3'
|
Posted On |
2016-06-21 |