Incidental Mutation 'R6399:Serpinb9g'
| ID |
516107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9g
|
| Ensembl Gene |
ENSMUSG00000057726 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9g |
| Synonyms |
ovalbumin, NK21B, 1600002F03Rik |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
159.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33668773-33679985 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33676834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 205
(L205F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081927]
|
| AlphaFold |
Q8VHQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081927
AA Change: L205F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080597
Gene: ENSMUSG00000057726
AA Change: L205F
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
2.87e-166 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5aq7 |
C |
T |
2: 86,938,330 (GRCm39) |
V134I |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
Het |
|
| Other mutations in Serpinb9g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Serpinb9g
|
APN |
13 |
33,679,088 (GRCm39) |
nonsense |
probably null |
|
|
IGL02346:Serpinb9g
|
APN |
13 |
33,670,514 (GRCm39) |
start codon destroyed |
probably benign |
0.12 |
|
IGL02665:Serpinb9g
|
APN |
13 |
33,679,086 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02936:Serpinb9g
|
APN |
13 |
33,678,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1611:Serpinb9g
|
UTSW |
13 |
33,676,857 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3873:Serpinb9g
|
UTSW |
13 |
33,670,518 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4060:Serpinb9g
|
UTSW |
13 |
33,679,089 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4505:Serpinb9g
|
UTSW |
13 |
33,670,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Serpinb9g
|
UTSW |
13 |
33,676,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Serpinb9g
|
UTSW |
13 |
33,670,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6942:Serpinb9g
|
UTSW |
13 |
33,678,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7319:Serpinb9g
|
UTSW |
13 |
33,672,543 (GRCm39) |
nonsense |
probably null |
|
|
R7466:Serpinb9g
|
UTSW |
13 |
33,679,150 (GRCm39) |
missense |
probably benign |
|
|
R7470:Serpinb9g
|
UTSW |
13 |
33,670,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Serpinb9g
|
UTSW |
13 |
33,676,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8531:Serpinb9g
|
UTSW |
13 |
33,676,896 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8555:Serpinb9g
|
UTSW |
13 |
33,676,796 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8743:Serpinb9g
|
UTSW |
13 |
33,678,931 (GRCm39) |
missense |
probably benign |
|
|
R8918:Serpinb9g
|
UTSW |
13 |
33,679,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9542:Serpinb9g
|
UTSW |
13 |
33,679,141 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTGGAATTGTACCTGGAACATG -3'
(R):5'- TCCCTCAAATGGCAGTTGC -3'
Sequencing Primer
(F):5'- ACCTGGAACATGAATATTGATTTCAC -3'
(R):5'- GGACACAAATGAACACTGGATTCTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation