Incidental Mutation 'R0589:Ggnbp2'
ID |
55886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
MMRRC Submission |
038779-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R0589 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84727277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 520
(C520S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000154915]
[ENSMUST00000168434]
[ENSMUST00000170741]
[ENSMUST00000172405]
|
AlphaFold |
Q5SV77 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018547
AA Change: C560S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530 AA Change: C560S
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
185 |
N/A |
INTRINSIC |
coiled coil region
|
393 |
426 |
N/A |
INTRINSIC |
low complexity region
|
570 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100686
AA Change: C498S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530 AA Change: C498S
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
388 |
N/A |
INTRINSIC |
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108081
AA Change: C520S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530 AA Change: C520S
Domain | Start | End | E-Value | Type |
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132098
AA Change: C6S
|
SMART Domains |
Protein: ENSMUSP00000129898 Gene: ENSMUSG00000020530 AA Change: C6S
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154915
AA Change: C518S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530 AA Change: C518S
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
384 |
N/A |
INTRINSIC |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168267
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168434
AA Change: C518S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530 AA Change: C518S
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
384 |
N/A |
INTRINSIC |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170741
AA Change: C89S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128109 Gene: ENSMUSG00000020530 AA Change: C89S
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172405
AA Change: C520S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530 AA Change: C520S
Domain | Start | End | E-Value | Type |
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2956 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.1%
|
Validation Efficiency |
98% (62/63) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality throughout fetal growth and development associated with pallor and alterations in placental labyrinth vasculature morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
Cers5 |
A |
T |
15: 99,638,837 (GRCm39) |
D208E |
probably damaging |
Het |
Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
Dnai3 |
A |
G |
3: 145,768,086 (GRCm39) |
S592P |
probably benign |
Het |
Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
G |
16: 33,552,077 (GRCm39) |
I762R |
probably damaging |
Het |
Ints11 |
A |
T |
4: 155,971,343 (GRCm39) |
T264S |
probably damaging |
Het |
Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,131,303 (GRCm39) |
S223P |
probably damaging |
Het |
Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
probably benign |
Het |
|
Other mutations in Ggnbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00971:Ggnbp2
|
APN |
11 |
84,731,230 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02095:Ggnbp2
|
APN |
11 |
84,723,954 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02366:Ggnbp2
|
APN |
11 |
84,732,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02548:Ggnbp2
|
APN |
11 |
84,753,112 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0211:Ggnbp2
|
UTSW |
11 |
84,731,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Ggnbp2
|
UTSW |
11 |
84,731,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R0375:Ggnbp2
|
UTSW |
11 |
84,727,200 (GRCm39) |
nonsense |
probably null |
|
R0415:Ggnbp2
|
UTSW |
11 |
84,724,051 (GRCm39) |
splice site |
probably benign |
|
R0433:Ggnbp2
|
UTSW |
11 |
84,727,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0970:Ggnbp2
|
UTSW |
11 |
84,753,138 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1413:Ggnbp2
|
UTSW |
11 |
84,723,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Ggnbp2
|
UTSW |
11 |
84,753,122 (GRCm39) |
missense |
probably benign |
0.02 |
R1997:Ggnbp2
|
UTSW |
11 |
84,751,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R2161:Ggnbp2
|
UTSW |
11 |
84,725,259 (GRCm39) |
missense |
probably benign |
0.08 |
R2220:Ggnbp2
|
UTSW |
11 |
84,727,439 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2879:Ggnbp2
|
UTSW |
11 |
84,723,797 (GRCm39) |
splice site |
probably null |
|
R2941:Ggnbp2
|
UTSW |
11 |
84,732,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R3726:Ggnbp2
|
UTSW |
11 |
84,744,920 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4662:Ggnbp2
|
UTSW |
11 |
84,753,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Ggnbp2
|
UTSW |
11 |
84,725,314 (GRCm39) |
missense |
probably benign |
0.00 |
R5212:Ggnbp2
|
UTSW |
11 |
84,744,847 (GRCm39) |
intron |
probably benign |
|
R5310:Ggnbp2
|
UTSW |
11 |
84,760,794 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5479:Ggnbp2
|
UTSW |
11 |
84,745,169 (GRCm39) |
missense |
probably benign |
|
R5924:Ggnbp2
|
UTSW |
11 |
84,749,363 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6212:Ggnbp2
|
UTSW |
11 |
84,727,503 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6700:Ggnbp2
|
UTSW |
11 |
84,730,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R6931:Ggnbp2
|
UTSW |
11 |
84,723,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R7031:Ggnbp2
|
UTSW |
11 |
84,751,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R7493:Ggnbp2
|
UTSW |
11 |
84,744,899 (GRCm39) |
missense |
probably benign |
0.21 |
R7694:Ggnbp2
|
UTSW |
11 |
84,751,539 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7761:Ggnbp2
|
UTSW |
11 |
84,730,803 (GRCm39) |
splice site |
probably null |
|
R8257:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8355:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8419:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8511:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8512:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8532:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8534:Ggnbp2
|
UTSW |
11 |
84,728,815 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8551:Ggnbp2
|
UTSW |
11 |
84,732,351 (GRCm39) |
nonsense |
probably null |
|
R8695:Ggnbp2
|
UTSW |
11 |
84,760,767 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8705:Ggnbp2
|
UTSW |
11 |
84,753,132 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8864:Ggnbp2
|
UTSW |
11 |
84,730,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9055:Ggnbp2
|
UTSW |
11 |
84,732,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Ggnbp2
|
UTSW |
11 |
84,730,886 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9324:Ggnbp2
|
UTSW |
11 |
84,725,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R9523:Ggnbp2
|
UTSW |
11 |
84,745,188 (GRCm39) |
missense |
probably benign |
0.07 |
R9578:Ggnbp2
|
UTSW |
11 |
84,744,989 (GRCm39) |
missense |
probably benign |
0.22 |
Z1187:Ggnbp2
|
UTSW |
11 |
84,727,478 (GRCm39) |
missense |
probably benign |
0.04 |
Z1188:Ggnbp2
|
UTSW |
11 |
84,727,478 (GRCm39) |
missense |
probably benign |
0.04 |
Z1189:Ggnbp2
|
UTSW |
11 |
84,727,478 (GRCm39) |
missense |
probably benign |
0.04 |
Z1190:Ggnbp2
|
UTSW |
11 |
84,727,478 (GRCm39) |
missense |
probably benign |
0.04 |
Z1192:Ggnbp2
|
UTSW |
11 |
84,727,478 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
|
Posted On |
2013-07-11 |