Incidental Mutation 'R5573:Serpinb9d'
ID |
435791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb9d
|
Ensembl Gene |
ENSMUSG00000054266 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9d |
Synonyms |
Spi9, AT2, ovalbumin |
MMRRC Submission |
043128-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5573 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
33376942-33387112 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 33380423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067198]
|
AlphaFold |
Q8BMT0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067198
|
SMART Domains |
Protein: ENSMUSP00000067710 Gene: ENSMUSG00000054266
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.79e-167 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef28 |
A |
T |
13: 98,065,999 (GRCm39) |
V1618D |
probably benign |
Het |
Asic5 |
T |
A |
3: 81,911,791 (GRCm39) |
F129Y |
probably benign |
Het |
Cachd1 |
A |
C |
4: 100,831,276 (GRCm39) |
K689N |
probably damaging |
Het |
Cbfa2t2 |
A |
G |
2: 154,278,782 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,108,482 (GRCm39) |
V360A |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,261,525 (GRCm39) |
A605V |
probably benign |
Het |
Csn3 |
A |
G |
5: 88,077,910 (GRCm39) |
T139A |
probably benign |
Het |
Ddx27 |
G |
T |
2: 166,859,806 (GRCm39) |
K79N |
possibly damaging |
Het |
Dhx29 |
G |
A |
13: 113,069,749 (GRCm39) |
D211N |
probably benign |
Het |
Dlg2 |
A |
G |
7: 91,646,532 (GRCm39) |
|
probably null |
Het |
Dse |
C |
A |
10: 34,028,678 (GRCm39) |
R804L |
probably benign |
Het |
Fgb |
T |
C |
3: 82,956,984 (GRCm39) |
|
probably null |
Het |
Gm11011 |
A |
T |
2: 169,429,392 (GRCm39) |
I31K |
unknown |
Het |
Hira |
A |
G |
16: 18,735,349 (GRCm39) |
T272A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,000,686 (GRCm39) |
H117Q |
probably benign |
Het |
Mettl23 |
A |
G |
11: 116,734,437 (GRCm39) |
|
probably benign |
Het |
Mtmr2 |
T |
C |
9: 13,704,463 (GRCm39) |
Y197H |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,778,284 (GRCm39) |
S1347A |
probably benign |
Het |
Myrfl |
A |
G |
10: 116,658,661 (GRCm39) |
V432A |
probably damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,925,531 (GRCm39) |
H6347Q |
possibly damaging |
Het |
Or52r1b |
A |
T |
7: 102,691,547 (GRCm39) |
Y282F |
probably damaging |
Het |
Or8b53 |
T |
A |
9: 38,667,000 (GRCm39) |
N5K |
probably damaging |
Het |
Peg10 |
A |
G |
6: 4,755,913 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
A |
G |
2: 11,506,483 (GRCm39) |
V10A |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,915,871 (GRCm39) |
D175G |
probably damaging |
Het |
Plekhg6 |
T |
G |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
Ptbp3 |
A |
G |
4: 59,485,626 (GRCm39) |
V95A |
probably damaging |
Het |
Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
Rbbp8nl |
G |
A |
2: 179,921,586 (GRCm39) |
P266L |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,715,148 (GRCm39) |
S4659G |
unknown |
Het |
Slc22a28 |
A |
C |
19: 8,048,462 (GRCm39) |
I395S |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,656 (GRCm39) |
I82L |
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,876,504 (GRCm39) |
R295* |
probably null |
Het |
Tdrd9 |
C |
T |
12: 111,964,336 (GRCm39) |
|
probably null |
Het |
Ube2v2 |
A |
G |
16: 15,374,343 (GRCm39) |
L77P |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,361,769 (GRCm39) |
S182P |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,336,201 (GRCm39) |
E131G |
probably damaging |
Het |
Wdr18 |
C |
T |
10: 79,800,872 (GRCm39) |
A145V |
probably benign |
Het |
Xpnpep1 |
A |
G |
19: 52,993,253 (GRCm39) |
I358T |
probably damaging |
Het |
Zfp946 |
T |
A |
17: 22,673,676 (GRCm39) |
C143* |
probably null |
Het |
|
Other mutations in Serpinb9d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01516:Serpinb9d
|
APN |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
IGL01610:Serpinb9d
|
APN |
13 |
33,381,985 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01702:Serpinb9d
|
APN |
13 |
33,387,006 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01833:Serpinb9d
|
APN |
13 |
33,384,688 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02029:Serpinb9d
|
APN |
13 |
33,380,512 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03013:Serpinb9d
|
APN |
13 |
33,380,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03027:Serpinb9d
|
APN |
13 |
33,386,698 (GRCm39) |
nonsense |
probably null |
|
IGL03056:Serpinb9d
|
APN |
13 |
33,386,736 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Serpinb9d
|
APN |
13 |
33,386,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03206:Serpinb9d
|
APN |
13 |
33,382,014 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0217:Serpinb9d
|
UTSW |
13 |
33,382,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0370:Serpinb9d
|
UTSW |
13 |
33,379,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R1174:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
R1175:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
R1711:Serpinb9d
|
UTSW |
13 |
33,384,731 (GRCm39) |
missense |
probably benign |
0.03 |
R1716:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R1874:Serpinb9d
|
UTSW |
13 |
33,381,946 (GRCm39) |
splice site |
probably null |
|
R2186:Serpinb9d
|
UTSW |
13 |
33,387,030 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2497:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4198:Serpinb9d
|
UTSW |
13 |
33,386,948 (GRCm39) |
missense |
probably benign |
0.01 |
R4198:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
R4199:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
R4584:Serpinb9d
|
UTSW |
13 |
33,384,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R4650:Serpinb9d
|
UTSW |
13 |
33,386,836 (GRCm39) |
missense |
probably benign |
0.00 |
R5627:Serpinb9d
|
UTSW |
13 |
33,386,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Serpinb9d
|
UTSW |
13 |
33,378,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6706:Serpinb9d
|
UTSW |
13 |
33,380,541 (GRCm39) |
missense |
probably benign |
|
R6948:Serpinb9d
|
UTSW |
13 |
33,384,706 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7271:Serpinb9d
|
UTSW |
13 |
33,378,617 (GRCm39) |
missense |
probably benign |
0.43 |
R7336:Serpinb9d
|
UTSW |
13 |
33,384,702 (GRCm39) |
missense |
probably benign |
0.00 |
R7436:Serpinb9d
|
UTSW |
13 |
33,379,916 (GRCm39) |
missense |
probably benign |
0.35 |
R7675:Serpinb9d
|
UTSW |
13 |
33,386,759 (GRCm39) |
nonsense |
probably null |
|
R7874:Serpinb9d
|
UTSW |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
R9188:Serpinb9d
|
UTSW |
13 |
33,386,843 (GRCm39) |
missense |
probably damaging |
0.99 |
R9775:Serpinb9d
|
UTSW |
13 |
33,382,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCATCAAAGACAGTAGCTATG -3'
(R):5'- CTGTGAGATCAGACCATGGTG -3'
Sequencing Primer
(F):5'- TCAAAGACAGTAGCTATGTTAAGATG -3'
(R):5'- TCAGACCATGGTGGGGAG -3'
|
Posted On |
2016-10-24 |