Incidental Mutation 'R6061:Serpinb6b'
| ID |
483246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb6b
|
| Ensembl Gene |
ENSMUSG00000042842 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6b |
| Synonyms |
NK13, ovalbumin, Spi12 |
| MMRRC Submission |
044226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33149192-33163050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33161977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017184]
[ENSMUST00000110293]
[ENSMUST00000164541]
|
| AlphaFold |
O08804 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017184
|
| SMART Domains |
Protein: ENSMUSP00000017184
Gene: ENSMUSG00000042842
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
208 |
1.22e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110293
AA Change: T259A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105922
Gene: ENSMUSG00000042842
AA Change: T259A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
1.99e-174 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164541
AA Change: T140A
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
C |
6: 128,545,675 (GRCm39) |
F484C |
probably damaging |
Het |
| Aoc1l1 |
A |
C |
6: 48,953,535 (GRCm39) |
I487L |
probably benign |
Het |
| Cdsn |
A |
G |
17: 35,865,803 (GRCm39) |
S111G |
unknown |
Het |
| Ctnnal1 |
T |
C |
4: 56,812,349 (GRCm39) |
T726A |
probably benign |
Het |
| Cyp2j11 |
T |
A |
4: 96,236,853 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,476,275 (GRCm39) |
M1541K |
probably null |
Het |
| Dnah14 |
C |
T |
1: 181,536,616 (GRCm39) |
P2420S |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
| Glipr1l1 |
C |
T |
10: 111,912,075 (GRCm39) |
T203M |
probably benign |
Het |
| Gm4353 |
T |
A |
7: 115,683,504 (GRCm39) |
D97V |
probably benign |
Het |
| Gprc6a |
A |
T |
10: 51,491,907 (GRCm39) |
I543K |
probably damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,830 (GRCm39) |
T110A |
possibly damaging |
Het |
| Med27 |
T |
A |
2: 29,399,453 (GRCm39) |
S95T |
probably damaging |
Het |
| Mocs1 |
T |
C |
17: 49,757,341 (GRCm39) |
S308P |
probably damaging |
Het |
| Mrpl11 |
C |
T |
19: 5,013,397 (GRCm39) |
S88F |
possibly damaging |
Het |
| Nav3 |
A |
T |
10: 109,702,845 (GRCm39) |
Y229* |
probably null |
Het |
| Or2f1b |
A |
T |
6: 42,739,899 (GRCm39) |
L304F |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,772 (GRCm39) |
M37V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or52r1 |
C |
A |
7: 102,537,158 (GRCm39) |
L67F |
probably benign |
Het |
| Or5g27 |
T |
A |
2: 85,409,886 (GRCm39) |
M101K |
possibly damaging |
Het |
| Pear1 |
A |
G |
3: 87,663,238 (GRCm39) |
I460T |
probably benign |
Het |
| Phc3 |
T |
A |
3: 30,968,678 (GRCm39) |
K816N |
probably damaging |
Het |
| Phf19 |
T |
A |
2: 34,787,129 (GRCm39) |
D445V |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,742 (GRCm39) |
F486L |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,003,639 (GRCm39) |
|
probably benign |
Het |
| Prkca |
A |
G |
11: 107,948,671 (GRCm39) |
I106T |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,248,681 (GRCm39) |
G218R |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,130 (GRCm39) |
D217G |
possibly damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Rfx2 |
A |
G |
17: 57,084,473 (GRCm39) |
F642S |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,075,636 (GRCm39) |
M271K |
possibly damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,705 (GRCm39) |
V123M |
possibly damaging |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,888,303 (GRCm39) |
F950L |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,460,664 (GRCm39) |
V551A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,482 (GRCm39) |
D228E |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,531 (GRCm39) |
I269V |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,972,410 (GRCm39) |
M497K |
probably damaging |
Het |
| Wnt5b |
A |
G |
6: 119,410,603 (GRCm39) |
V241A |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,228,342 (GRCm39) |
N353S |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,757 (GRCm39) |
T672M |
probably damaging |
Het |
|
| Other mutations in Serpinb6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Serpinb6b
|
APN |
13 |
33,155,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01077:Serpinb6b
|
APN |
13 |
33,162,049 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01553:Serpinb6b
|
APN |
13 |
33,158,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Serpinb6b
|
APN |
13 |
33,155,589 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0308:Serpinb6b
|
UTSW |
13 |
33,162,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1568:Serpinb6b
|
UTSW |
13 |
33,158,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Serpinb6b
|
UTSW |
13 |
33,158,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Serpinb6b
|
UTSW |
13 |
33,162,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1918:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1919:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
|
R1920:Serpinb6b
|
UTSW |
13 |
33,158,991 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3032:Serpinb6b
|
UTSW |
13 |
33,152,551 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4239:Serpinb6b
|
UTSW |
13 |
33,156,246 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5089:Serpinb6b
|
UTSW |
13 |
33,162,133 (GRCm39) |
missense |
probably benign |
|
|
R5503:Serpinb6b
|
UTSW |
13 |
33,161,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5540:Serpinb6b
|
UTSW |
13 |
33,161,541 (GRCm39) |
nonsense |
probably null |
|
|
R6253:Serpinb6b
|
UTSW |
13 |
33,156,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Serpinb6b
|
UTSW |
13 |
33,155,598 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7248:Serpinb6b
|
UTSW |
13 |
33,161,559 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7315:Serpinb6b
|
UTSW |
13 |
33,156,240 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7424:Serpinb6b
|
UTSW |
13 |
33,152,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7547:Serpinb6b
|
UTSW |
13 |
33,158,907 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7732:Serpinb6b
|
UTSW |
13 |
33,152,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Serpinb6b
|
UTSW |
13 |
33,161,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7802:Serpinb6b
|
UTSW |
13 |
33,155,579 (GRCm39) |
|
|
|
|
R8814:Serpinb6b
|
UTSW |
13 |
33,162,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8966:Serpinb6b
|
UTSW |
13 |
33,162,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Serpinb6b
|
UTSW |
13 |
33,162,125 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9037:Serpinb6b
|
UTSW |
13 |
33,161,998 (GRCm39) |
nonsense |
probably null |
|
|
R9129:Serpinb6b
|
UTSW |
13 |
33,162,139 (GRCm39) |
small deletion |
probably benign |
|
|
R9377:Serpinb6b
|
UTSW |
13 |
33,152,494 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9415:Serpinb6b
|
UTSW |
13 |
33,159,002 (GRCm39) |
missense |
|
|
|
R9632:Serpinb6b
|
UTSW |
13 |
33,155,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAGGCTCCCATGATCAC -3'
(R):5'- TGTGAATGACCTTGGACAGAAAC -3'
Sequencing Primer
(F):5'- TGGAACCCAGAGCCTGAAGC -3'
(R):5'- GGACAGAAACAAGCCTTCTTTAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation