Incidental Mutation 'IGL00926:Gpbp1l1'
| ID |
27248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpbp1l1
|
| Ensembl Gene |
ENSMUSG00000034042 |
| Gene Name |
GC-rich promoter binding protein 1-like 1 |
| Synonyms |
5330440M15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116414855-116451079 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 116444710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030460]
[ENSMUST00000106475]
|
| AlphaFold |
Q6NZP2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030460
|
| SMART Domains |
Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
|
Pfam:Vasculin
|
376 |
470 |
5.1e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106475
|
| SMART Domains |
Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
|
Pfam:Vasculin
|
377 |
470 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142815
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
| Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
| Cavin2 |
A |
G |
1: 51,340,036 (GRCm39) |
K238E |
probably damaging |
Het |
| Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
| Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
| Clec4a1 |
T |
A |
6: 122,899,014 (GRCm39) |
C28S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
| Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
C |
5: 100,912,948 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mettl18 |
T |
A |
1: 163,823,795 (GRCm39) |
S39T |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
| Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
| Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
| Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
| Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
| Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,155 (GRCm39) |
N423S |
possibly damaging |
Het |
| Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
G |
A |
3: 116,383,884 (GRCm39) |
Q58* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
| Other mutations in Gpbp1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03342:Gpbp1l1
|
APN |
4 |
116,431,740 (GRCm39) |
missense |
probably benign |
|
|
R0534:Gpbp1l1
|
UTSW |
4 |
116,448,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Gpbp1l1
|
UTSW |
4 |
116,438,436 (GRCm39) |
splice site |
probably benign |
|
|
R1136:Gpbp1l1
|
UTSW |
4 |
116,450,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Gpbp1l1
|
UTSW |
4 |
116,431,563 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3975:Gpbp1l1
|
UTSW |
4 |
116,428,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4296:Gpbp1l1
|
UTSW |
4 |
116,444,656 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4676:Gpbp1l1
|
UTSW |
4 |
116,447,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Gpbp1l1
|
UTSW |
4 |
116,430,714 (GRCm39) |
missense |
probably benign |
|
|
R5086:Gpbp1l1
|
UTSW |
4 |
116,445,789 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5931:Gpbp1l1
|
UTSW |
4 |
116,447,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6486:Gpbp1l1
|
UTSW |
4 |
116,438,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6604:Gpbp1l1
|
UTSW |
4 |
116,430,702 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6973:Gpbp1l1
|
UTSW |
4 |
116,438,479 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7031:Gpbp1l1
|
UTSW |
4 |
116,450,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Gpbp1l1
|
UTSW |
4 |
116,445,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7286:Gpbp1l1
|
UTSW |
4 |
116,447,442 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7368:Gpbp1l1
|
UTSW |
4 |
116,430,655 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7791:Gpbp1l1
|
UTSW |
4 |
116,431,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Gpbp1l1
|
UTSW |
4 |
116,431,558 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2013-04-17 |
Incidental Mutation