Incidental Mutation 'R5989:Ggnbp1'
| ID |
481904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp1
|
| Ensembl Gene |
ENSMUSG00000048731 |
| Gene Name |
gametogenetin binding protein 1 |
| Synonyms |
0610031G08Rik |
| MMRRC Submission |
044169-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27237009-27255352 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27248721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 97
(R97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025034]
[ENSMUST00000053683]
[ENSMUST00000078691]
[ENSMUST00000122106]
[ENSMUST00000133257]
|
| AlphaFold |
Q6K1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025034
|
| SMART Domains |
Protein: ENSMUSP00000025034
Gene: ENSMUSG00000057789
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f16a_
|
15 |
114 |
2e-18 |
SMART |
|
PDB:2M5B|A
|
18 |
126 |
1e-50 |
PDB |
|
Blast:BCL
|
33 |
66 |
2e-10 |
BLAST |
|
Blast:BCL
|
76 |
126 |
2e-20 |
BLAST |
|
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053683
AA Change: R97G
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000051800
Gene: ENSMUSG00000048731
AA Change: R97G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
264 |
280 |
1.14e-6 |
PROSPERO |
|
Pfam:Ubiquitin_3
|
281 |
368 |
6.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078691
|
| SMART Domains |
Protein: ENSMUSP00000077757
Gene: ENSMUSG00000057789
| Domain | Start | End | E-Value | Type |
|---|
|
BCL
|
76 |
175 |
2.2e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122106
|
| SMART Domains |
Protein: ENSMUSP00000113880
Gene: ENSMUSG00000048731
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Ubiquitin_3
|
172 |
260 |
2.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133257
AA Change: R97G
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115777
Gene: ENSMUSG00000048731
AA Change: R97G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
264 |
280 |
1.14e-6 |
PROSPERO |
|
Pfam:Ubiquitin_3
|
281 |
368 |
1.5e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133448
|
| SMART Domains |
Protein: ENSMUSP00000122800
Gene: ENSMUSG00000057789
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154731
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
| Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
| Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
| Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
| Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
| Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
probably damaging |
Het |
|
| Other mutations in Ggnbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02619:Ggnbp1
|
APN |
17 |
27,248,529 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1978:Ggnbp1
|
UTSW |
17 |
27,248,517 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3721:Ggnbp1
|
UTSW |
17 |
27,248,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3898:Ggnbp1
|
UTSW |
17 |
27,244,312 (GRCm39) |
unclassified |
probably benign |
|
|
R4849:Ggnbp1
|
UTSW |
17 |
27,251,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6192:Ggnbp1
|
UTSW |
17 |
27,248,847 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7619:Ggnbp1
|
UTSW |
17 |
27,237,105 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7697:Ggnbp1
|
UTSW |
17 |
27,249,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7999:Ggnbp1
|
UTSW |
17 |
27,248,619 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCGGTTCTAAGAGCACTAAC -3'
(R):5'- TAGCTAGATCAGGCTACCCCAC -3'
Sequencing Primer
(F):5'- GGTTCTAAGAGCACTAACAAGCC -3'
(R):5'- AGCCCCTCACCTGTCTGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation