Incidental Mutation 'R5900:Serpina9'
ID |
456288 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpina9
|
Ensembl Gene |
ENSMUSG00000058260 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 |
Synonyms |
Centerin, 2310014L03Rik |
MMRRC Submission |
044099-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R5900 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
103962877-103979911 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 103975130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 8
(R8*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130064
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058464]
[ENSMUST00000164023]
|
AlphaFold |
Q9D7D2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058464
AA Change: R8*
|
SMART Domains |
Protein: ENSMUSP00000058535 Gene: ENSMUSG00000058260 AA Change: R8*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
55 |
415 |
1.27e-158 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164023
AA Change: R8*
|
SMART Domains |
Protein: ENSMUSP00000130064 Gene: ENSMUSG00000058260 AA Change: R8*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
55 |
205 |
8.9e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,169,982 (GRCm39) |
T1341S |
possibly damaging |
Het |
Abcc12 |
T |
C |
8: 87,293,149 (GRCm39) |
D13G |
possibly damaging |
Het |
Adam24 |
T |
C |
8: 41,134,071 (GRCm39) |
V513A |
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,314,163 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,617,805 (GRCm39) |
T1995A |
probably benign |
Het |
Apoh |
G |
T |
11: 108,302,843 (GRCm39) |
K269N |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,175,319 (GRCm39) |
L1798F |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,464,597 (GRCm39) |
C1454S |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,531,633 (GRCm39) |
D689G |
possibly damaging |
Het |
Cpa5 |
T |
C |
6: 30,615,115 (GRCm39) |
V84A |
probably damaging |
Het |
Ctsh |
T |
C |
9: 89,946,621 (GRCm39) |
I116T |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,199,515 (GRCm39) |
E1463V |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,166 (GRCm39) |
|
probably null |
Het |
Dstyk |
G |
A |
1: 132,384,717 (GRCm39) |
R737Q |
probably damaging |
Het |
Galr1 |
A |
G |
18: 82,411,982 (GRCm39) |
S295P |
probably damaging |
Het |
Gpx2 |
A |
G |
12: 76,839,653 (GRCm39) |
V115A |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,207,597 (GRCm39) |
I219V |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,244,445 (GRCm39) |
M214V |
possibly damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,291 (GRCm39) |
V124A |
possibly damaging |
Het |
Lrrcc1 |
T |
G |
3: 14,627,186 (GRCm39) |
S704R |
possibly damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,176 (GRCm39) |
Y301C |
probably damaging |
Het |
Mcpt8 |
T |
C |
14: 56,319,740 (GRCm39) |
I237V |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,536,534 (GRCm39) |
V394D |
possibly damaging |
Het |
Ncapd3 |
T |
A |
9: 26,978,265 (GRCm39) |
D821E |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,564,156 (GRCm39) |
D1058G |
probably damaging |
Het |
Pld2 |
G |
A |
11: 70,446,888 (GRCm39) |
|
probably null |
Het |
Prdm2 |
A |
G |
4: 142,861,290 (GRCm39) |
S667P |
probably damaging |
Het |
Ptgdr2 |
A |
T |
19: 10,918,352 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,524,538 (GRCm39) |
T576I |
probably benign |
Het |
Safb |
T |
C |
17: 56,907,349 (GRCm39) |
C426R |
unknown |
Het |
Shank3 |
G |
A |
15: 89,387,593 (GRCm39) |
R254Q |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,694,837 (GRCm39) |
V306A |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,853 (GRCm39) |
T305A |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,105,005 (GRCm39) |
C463* |
probably null |
Het |
Tmem132d |
A |
T |
5: 128,346,336 (GRCm39) |
L62Q |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,784 (GRCm39) |
L2507H |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,451 (GRCm39) |
V702A |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,256,308 (GRCm39) |
I271T |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,805,125 (GRCm39) |
L2640I |
probably damaging |
Het |
Znrf3 |
G |
T |
11: 5,232,110 (GRCm39) |
H468N |
probably damaging |
Het |
|
Other mutations in Serpina9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Serpina9
|
APN |
12 |
103,974,845 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02228:Serpina9
|
APN |
12 |
103,974,859 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02692:Serpina9
|
APN |
12 |
103,974,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Serpina9
|
APN |
12 |
103,974,869 (GRCm39) |
nonsense |
probably null |
|
IGL03134:Serpina9
|
UTSW |
12 |
103,967,696 (GRCm39) |
missense |
probably null |
0.18 |
R0119:Serpina9
|
UTSW |
12 |
103,967,729 (GRCm39) |
missense |
probably benign |
0.18 |
R0299:Serpina9
|
UTSW |
12 |
103,967,729 (GRCm39) |
missense |
probably benign |
0.18 |
R0499:Serpina9
|
UTSW |
12 |
103,967,729 (GRCm39) |
missense |
probably benign |
0.18 |
R1477:Serpina9
|
UTSW |
12 |
103,963,362 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1912:Serpina9
|
UTSW |
12 |
103,967,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R2142:Serpina9
|
UTSW |
12 |
103,974,568 (GRCm39) |
missense |
probably benign |
0.04 |
R2221:Serpina9
|
UTSW |
12 |
103,964,523 (GRCm39) |
missense |
probably damaging |
0.98 |
R2413:Serpina9
|
UTSW |
12 |
103,967,485 (GRCm39) |
critical splice donor site |
probably null |
|
R3939:Serpina9
|
UTSW |
12 |
103,975,151 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R4515:Serpina9
|
UTSW |
12 |
103,967,553 (GRCm39) |
missense |
probably benign |
0.14 |
R5242:Serpina9
|
UTSW |
12 |
103,974,644 (GRCm39) |
missense |
probably benign |
0.09 |
R5589:Serpina9
|
UTSW |
12 |
103,967,728 (GRCm39) |
missense |
probably benign |
0.00 |
R6171:Serpina9
|
UTSW |
12 |
103,974,678 (GRCm39) |
nonsense |
probably null |
|
R6195:Serpina9
|
UTSW |
12 |
103,967,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R6566:Serpina9
|
UTSW |
12 |
103,963,296 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6995:Serpina9
|
UTSW |
12 |
103,967,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7762:Serpina9
|
UTSW |
12 |
103,967,575 (GRCm39) |
missense |
probably damaging |
0.98 |
R7808:Serpina9
|
UTSW |
12 |
103,967,484 (GRCm39) |
critical splice donor site |
probably null |
|
R7860:Serpina9
|
UTSW |
12 |
103,967,680 (GRCm39) |
missense |
probably benign |
0.01 |
R7935:Serpina9
|
UTSW |
12 |
103,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R9041:Serpina9
|
UTSW |
12 |
103,967,737 (GRCm39) |
missense |
|
|
Z1176:Serpina9
|
UTSW |
12 |
103,967,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCTGGGTTTTCCTGAGC -3'
(R):5'- TATCCCAGTTAGCATCAGCCTC -3'
Sequencing Primer
(F):5'- TGGGTTTTCCTGAGCCAGCC -3'
(R):5'- TGTGACCCATGCCAAGTTAC -3'
|
Posted On |
2017-02-15 |