Incidental Mutation 'IGL01993:Psg16'
ID |
182054 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Psg16
|
Ensembl Gene |
ENSMUSG00000066760 |
Gene Name |
pregnancy specific beta-1-glycoprotein 16 |
Synonyms |
bCEA, Cea11 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01993
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16807965-16867375 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 16827631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 196
(S196T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071399]
[ENSMUST00000118367]
[ENSMUST00000152671]
|
AlphaFold |
Q8K0U8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071399
AA Change: S105T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000071348 Gene: ENSMUSG00000066760 AA Change: S105T
Domain | Start | End | E-Value | Type |
IG_like
|
6 |
52 |
1.42e2 |
SMART |
IG
|
71 |
172 |
1.21e-2 |
SMART |
IG
|
191 |
292 |
2.56e-1 |
SMART |
IG_like
|
302 |
395 |
5.13e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118367
AA Change: S105T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000113025 Gene: ENSMUSG00000066760 AA Change: S105T
Domain | Start | End | E-Value | Type |
IG_like
|
6 |
52 |
1.42e2 |
SMART |
IG
|
71 |
172 |
1.21e-2 |
SMART |
IG
|
191 |
292 |
2.56e-1 |
SMART |
IGc2
|
308 |
372 |
3.56e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131153
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152671
AA Change: S196T
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000118977 Gene: ENSMUSG00000066760 AA Change: S196T
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
IG
|
46 |
143 |
4.29e-3 |
SMART |
IG
|
162 |
261 |
2.94e-1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
A |
11: 9,208,452 (GRCm39) |
|
probably benign |
Het |
Acnat2 |
A |
T |
4: 49,380,131 (GRCm39) |
S398T |
probably benign |
Het |
Adgrb2 |
G |
T |
4: 129,912,635 (GRCm39) |
E1296D |
possibly damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
C |
A |
2: 25,164,725 (GRCm39) |
D322E |
probably benign |
Het |
Apobec1 |
A |
G |
6: 122,565,138 (GRCm39) |
|
probably benign |
Het |
Asic1 |
T |
C |
15: 99,595,353 (GRCm39) |
V393A |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,959,702 (GRCm39) |
F816C |
probably damaging |
Het |
Cfap69 |
A |
C |
5: 5,631,284 (GRCm39) |
L914R |
probably damaging |
Het |
Cgas |
A |
G |
9: 78,349,802 (GRCm39) |
S187P |
probably benign |
Het |
Cspg4 |
C |
T |
9: 56,805,762 (GRCm39) |
T2191I |
probably benign |
Het |
Cyp11a1 |
T |
A |
9: 57,928,106 (GRCm39) |
I210N |
probably damaging |
Het |
Dgkb |
T |
A |
12: 38,032,009 (GRCm39) |
Y24N |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,449,136 (GRCm39) |
T504A |
possibly damaging |
Het |
Fam135a |
A |
T |
1: 24,094,992 (GRCm39) |
D125E |
probably damaging |
Het |
Fgd3 |
T |
C |
13: 49,433,664 (GRCm39) |
H345R |
possibly damaging |
Het |
Gm12253 |
T |
C |
11: 58,325,379 (GRCm39) |
V17A |
probably damaging |
Het |
Hars1 |
C |
T |
18: 36,903,265 (GRCm39) |
G355D |
probably damaging |
Het |
Hpgd |
A |
T |
8: 56,772,097 (GRCm39) |
I190F |
probably benign |
Het |
Ighv1-34 |
A |
T |
12: 114,815,003 (GRCm39) |
M53K |
probably benign |
Het |
Ildr2 |
A |
T |
1: 166,096,939 (GRCm39) |
T53S |
possibly damaging |
Het |
Ints5 |
T |
A |
19: 8,872,829 (GRCm39) |
C263S |
probably benign |
Het |
Lars2 |
T |
C |
9: 123,224,008 (GRCm39) |
|
probably benign |
Het |
Ldha |
G |
A |
7: 46,504,524 (GRCm39) |
A349T |
possibly damaging |
Het |
Map3k2 |
T |
A |
18: 32,359,684 (GRCm39) |
C512* |
probably null |
Het |
Parp4 |
G |
A |
14: 56,848,245 (GRCm39) |
R687Q |
possibly damaging |
Het |
Plk2 |
T |
C |
13: 110,535,731 (GRCm39) |
S518P |
probably damaging |
Het |
Prrc2b |
T |
G |
2: 32,114,057 (GRCm39) |
V2036G |
possibly damaging |
Het |
Psme3ip1 |
G |
T |
8: 95,302,380 (GRCm39) |
A217D |
possibly damaging |
Het |
Ranbp17 |
T |
C |
11: 33,450,770 (GRCm39) |
T56A |
possibly damaging |
Het |
Retsat |
T |
C |
6: 72,581,978 (GRCm39) |
|
probably benign |
Het |
Robo3 |
G |
T |
9: 37,335,949 (GRCm39) |
L484I |
probably damaging |
Het |
Septin4 |
G |
T |
11: 87,458,555 (GRCm39) |
G310W |
possibly damaging |
Het |
Slc17a6 |
T |
C |
7: 51,317,705 (GRCm39) |
M446T |
possibly damaging |
Het |
Slc38a1 |
G |
A |
15: 96,521,927 (GRCm39) |
T11M |
probably damaging |
Het |
Tmem138 |
T |
C |
19: 10,548,952 (GRCm39) |
N106S |
probably benign |
Het |
Traf1 |
G |
A |
2: 34,836,879 (GRCm39) |
|
probably benign |
Het |
Tspan8 |
T |
C |
10: 115,675,913 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
T |
C |
15: 37,973,256 (GRCm39) |
E2615G |
probably damaging |
Het |
Vwde |
A |
G |
6: 13,219,977 (GRCm39) |
I58T |
possibly damaging |
Het |
Zc3h12c |
A |
G |
9: 52,027,611 (GRCm39) |
S603P |
probably damaging |
Het |
Zfp746 |
A |
T |
6: 48,059,092 (GRCm39) |
S172R |
probably damaging |
Het |
|
Other mutations in Psg16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02258:Psg16
|
APN |
7 |
16,829,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Psg16
|
UTSW |
7 |
16,864,583 (GRCm39) |
missense |
probably benign |
0.09 |
R0389:Psg16
|
UTSW |
7 |
16,829,088 (GRCm39) |
missense |
probably benign |
|
R0443:Psg16
|
UTSW |
7 |
16,829,088 (GRCm39) |
missense |
probably benign |
|
R1231:Psg16
|
UTSW |
7 |
16,829,230 (GRCm39) |
nonsense |
probably null |
|
R1594:Psg16
|
UTSW |
7 |
16,827,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Psg16
|
UTSW |
7 |
16,827,673 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2118:Psg16
|
UTSW |
7 |
16,824,548 (GRCm39) |
missense |
probably benign |
0.33 |
R3806:Psg16
|
UTSW |
7 |
16,824,609 (GRCm39) |
missense |
probably benign |
0.24 |
R4397:Psg16
|
UTSW |
7 |
16,824,623 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4583:Psg16
|
UTSW |
7 |
16,829,097 (GRCm39) |
missense |
probably benign |
0.01 |
R4685:Psg16
|
UTSW |
7 |
16,824,459 (GRCm39) |
missense |
probably benign |
0.00 |
R4929:Psg16
|
UTSW |
7 |
16,829,031 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5310:Psg16
|
UTSW |
7 |
16,824,560 (GRCm39) |
missense |
probably damaging |
0.99 |
R6106:Psg16
|
UTSW |
7 |
16,829,091 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6320:Psg16
|
UTSW |
7 |
16,822,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Psg16
|
UTSW |
7 |
16,824,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R6703:Psg16
|
UTSW |
7 |
16,824,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:Psg16
|
UTSW |
7 |
16,824,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7679:Psg16
|
UTSW |
7 |
16,827,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R8292:Psg16
|
UTSW |
7 |
16,827,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R8372:Psg16
|
UTSW |
7 |
16,829,240 (GRCm39) |
missense |
probably benign |
0.10 |
R8491:Psg16
|
UTSW |
7 |
16,824,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R8796:Psg16
|
UTSW |
7 |
16,827,814 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9131:Psg16
|
UTSW |
7 |
16,832,024 (GRCm39) |
missense |
probably benign |
0.00 |
R9437:Psg16
|
UTSW |
7 |
16,827,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R9659:Psg16
|
UTSW |
7 |
16,824,524 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9746:Psg16
|
UTSW |
7 |
16,832,086 (GRCm39) |
missense |
probably benign |
0.02 |
R9788:Psg16
|
UTSW |
7 |
16,824,524 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Posted On |
2014-05-07 |