Incidental Mutation 'R6486:Gpbp1l1'
| ID |
517328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1l1
|
| Ensembl Gene |
ENSMUSG00000034042 |
| Gene Name |
GC-rich promoter binding protein 1-like 1 |
| Synonyms |
5330440M15Rik |
| MMRRC Submission |
044618-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6486 (G1)
|
| Quality Score |
113.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116414855-116451079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116438572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 223
(K223E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030460]
[ENSMUST00000106475]
|
| AlphaFold |
Q6NZP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030460
AA Change: K223E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: K223E
| 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 damaging
Transcript: ENSMUST00000106475
AA Change: K223E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: K223E
| 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: ENSMUST00000131913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138837
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1d |
T |
A |
14: 29,836,190 (GRCm39) |
M853L |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,524,448 (GRCm39) |
|
probably null |
Het |
| Capg |
G |
T |
6: 72,534,733 (GRCm39) |
E187* |
probably null |
Het |
| Carns1 |
C |
T |
19: 4,219,979 (GRCm39) |
A419T |
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,305,027 (GRCm39) |
M407T |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 91,521,582 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,845,084 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,360,186 (GRCm39) |
N704D |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,528,233 (GRCm39) |
N78I |
possibly damaging |
Het |
| Lmbr1 |
C |
T |
5: 29,528,859 (GRCm39) |
V122M |
probably damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,469 (GRCm39) |
A309E |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,648 (GRCm39) |
E1713G |
possibly damaging |
Het |
| Neto1 |
A |
G |
18: 86,479,371 (GRCm39) |
I186M |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,532,952 (GRCm39) |
D668G |
probably damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,247,927 (GRCm39) |
|
probably null |
Het |
| Or1j11 |
A |
T |
2: 36,311,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Or5b124 |
T |
G |
19: 13,611,055 (GRCm39) |
N193K |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,200 (GRCm39) |
V2I |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,570,628 (GRCm39) |
S2304P |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,671,067 (GRCm39) |
F551S |
probably damaging |
Het |
| Stra6 |
TC |
T |
9: 58,058,705 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,851,650 (GRCm39) |
|
probably null |
Het |
| Tnfrsf22 |
T |
C |
7: 143,194,493 (GRCm39) |
T145A |
possibly damaging |
Het |
| Trp63 |
A |
T |
16: 25,684,090 (GRCm39) |
T326S |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,604 (GRCm39) |
M173L |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,304,425 (GRCm39) |
I669L |
probably benign |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
|
| Other mutations in Gpbp1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Gpbp1l1
|
APN |
4 |
116,444,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCTCCTATGTTGAAGGTGAGG -3'
(R):5'- ACTGGCAGAGTCTGGTAATGG -3'
Sequencing Primer
(F):5'- TGAAGGTGAGGATGTTGTTTAAAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation