Incidental Mutation 'P0033:Gm5901'
| ID |
7739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5901
|
| Ensembl Gene |
ENSMUSG00000078611 |
| Gene Name |
predicted gene 5901 |
| Synonyms |
|
| MMRRC Submission |
038284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
P0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105024245-105027584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105026712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 160
(Y160C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048079]
[ENSMUST00000074686]
[ENSMUST00000106805]
[ENSMUST00000118726]
[ENSMUST00000122327]
[ENSMUST00000137158]
[ENSMUST00000209233]
[ENSMUST00000211549]
[ENSMUST00000210448]
[ENSMUST00000179474]
|
| AlphaFold |
D3YVJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048079
|
| SMART Domains |
Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
2.8e-99 |
PFAM |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074686
|
| SMART Domains |
Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
4.4e-100 |
PFAM |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
825 |
840 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106805
AA Change: Y160C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102417
Gene: ENSMUSG00000078611
AA Change: Y160C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4663
|
1 |
332 |
1.8e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118726
|
| SMART Domains |
Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
1.8e-99 |
PFAM |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
722 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122327
|
| SMART Domains |
Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
5.6e-98 |
PFAM |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
906 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137158
|
| SMART Domains |
Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
259 |
7.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210972
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179474
|
| SMART Domains |
Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
96 |
426 |
4.2e-98 |
PFAM |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
920 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4170 |
| Coding Region Coverage |
- 1x: 81.1%
- 3x: 72.9%
- 10x: 47.1%
- 20x: 23.7%
|
| Validation Efficiency |
86% (108/125) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Depdc1a |
T |
C |
3: 159,221,778 (GRCm39) |
S241P |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,447,729 (GRCm39) |
M1K |
probably null |
Het |
| Egfem1 |
G |
C |
3: 29,744,340 (GRCm39) |
Q526H |
probably damaging |
Het |
| Gm10856 |
C |
A |
15: 79,730,023 (GRCm39) |
|
noncoding transcript |
Het |
| Hmg20a |
A |
G |
9: 56,397,108 (GRCm39) |
S303G |
probably benign |
Het |
| Lmbrd1 |
A |
G |
1: 24,724,646 (GRCm39) |
T77A |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,959 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,255 (GRCm39) |
V696I |
probably benign |
Het |
| Orm3 |
A |
T |
4: 63,274,539 (GRCm39) |
T35S |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,353,222 (GRCm39) |
E1004G |
probably damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,645,253 (GRCm39) |
V1067A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,047,091 (GRCm39) |
R392* |
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,285 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 71,967,675 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
C |
4: 73,668,089 (GRCm39) |
N134S |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,616,819 (GRCm39) |
P421L |
possibly damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,141,345 (GRCm39) |
I1129F |
probably damaging |
Het |
| Spats2l |
G |
A |
1: 57,924,997 (GRCm39) |
E132K |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
| Ttc16 |
T |
A |
2: 32,652,586 (GRCm39) |
T691S |
probably benign |
Het |
| Usp38 |
C |
T |
8: 81,708,525 (GRCm39) |
D1018N |
probably benign |
Het |
| Zcchc14 |
A |
C |
8: 122,336,898 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm5901 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Gm5901
|
APN |
7 |
105,026,722 (GRCm39) |
nonsense |
probably null |
|
|
IGL01668:Gm5901
|
APN |
7 |
105,026,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0316:Gm5901
|
UTSW |
7 |
105,026,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Gm5901
|
UTSW |
7 |
105,026,697 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2393:Gm5901
|
UTSW |
7 |
105,026,996 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2987:Gm5901
|
UTSW |
7 |
105,026,507 (GRCm39) |
missense |
probably benign |
|
|
R4665:Gm5901
|
UTSW |
7 |
105,026,438 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5103:Gm5901
|
UTSW |
7 |
105,026,589 (GRCm39) |
splice site |
probably null |
|
|
R5274:Gm5901
|
UTSW |
7 |
105,026,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5613:Gm5901
|
UTSW |
7 |
105,026,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Gm5901
|
UTSW |
7 |
105,026,367 (GRCm39) |
missense |
probably benign |
|
|
R7090:Gm5901
|
UTSW |
7 |
105,026,555 (GRCm39) |
missense |
probably benign |
|
|
R7128:Gm5901
|
UTSW |
7 |
105,027,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8280:Gm5901
|
UTSW |
7 |
105,027,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-10-29 |
Incidental Mutation