Incidental Mutation 'R1231:Psg16'
| ID |
152291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psg16
|
| Ensembl Gene |
ENSMUSG00000066760 |
| Gene Name |
pregnancy specific beta-1-glycoprotein 16 |
| Synonyms |
bCEA, Cea11 |
| MMRRC Submission |
039300-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16807965-16867375 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 16829230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 271
(Y271*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071399]
[ENSMUST00000118367]
[ENSMUST00000152671]
|
| AlphaFold |
Q8K0U8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071399
AA Change: Y271*
|
| SMART Domains |
Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: Y271*
| 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 null
Transcript: ENSMUST00000118367
AA Change: Y271*
|
| SMART Domains |
Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: Y271*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760
| 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 |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
| Cabp5 |
T |
C |
7: 13,139,350 (GRCm39) |
I125T |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
| Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
| Mtmr9 |
A |
T |
14: 63,765,640 (GRCm39) |
N418K |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,515 (GRCm38) |
M135L |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| St8sia5 |
T |
C |
18: 77,320,502 (GRCm39) |
Y49H |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
probably damaging |
Het |
|
| Other mutations in Psg16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01993:Psg16
|
APN |
7 |
16,827,631 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGGTCACCGTCTTTCCAC -3'
(R):5'- ATGCTGTTGGTTCATCCCAGGTATG -3'
Sequencing Primer
(F):5'- TCGATCCAATGCCACGGTATG -3'
(R):5'- TGCCCAAACCCTAAGGTGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation