Incidental Mutation 'R6604:Gpbp1l1'
| ID |
525525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpbp1l1
|
| Ensembl Gene |
ENSMUSG00000034042 |
| Gene Name |
GC-rich promoter binding protein 1-like 1 |
| Synonyms |
5330440M15Rik |
| MMRRC Submission |
044727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6604 (G1)
|
| Quality Score |
140.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116414855-116451079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116430702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 58
(P58S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030460]
[ENSMUST00000106475]
|
| AlphaFold |
Q6NZP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030460
AA Change: P58S
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
AA Change: P58S
| 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 benign
Transcript: ENSMUST00000106475
AA Change: P58S
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
AA Change: P58S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
| Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
| Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
| Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
| Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
| Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
| Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
| Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
| Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
| Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
| Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably damaging |
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 |
|
R6486:Gpbp1l1
|
UTSW |
4 |
116,438,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGCCCAATAAGCTACTGAAGG -3'
(R):5'- CCAGTCTGAGTTTAGTGTAAATAGCAC -3'
Sequencing Primer
(F):5'- CTGAAGGAAACTGAATCTTTTCCTC -3'
(R):5'- CTGGTCTACAAGTGAGTTCCAGGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation