Incidental Mutation 'IGL02548:Ggnbp2'
ID |
297922 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
IGL02548
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84753112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 42
(N42K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000154915]
[ENSMUST00000166425]
[ENSMUST00000172405]
[ENSMUST00000168434]
[ENSMUST00000170741]
|
AlphaFold |
Q5SV77 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018547
AA Change: N42K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530 AA Change: N42K
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 benign
Transcript: ENSMUST00000100686
AA Change: N42K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530 AA Change: N42K
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 benign
Transcript: ENSMUST00000108081
AA Change: N42K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530 AA Change: N42K
Domain | Start | End | E-Value | Type |
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154915
AA Change: N42K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530 AA Change: N42K
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: ENSMUST00000165459
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166425
AA Change: N42K
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172405
AA Change: N42K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530 AA Change: N42K
Domain | Start | End | E-Value | Type |
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168434
AA Change: N42K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530 AA Change: N42K
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 benign
Transcript: ENSMUST00000170741
|
SMART Domains |
Protein: ENSMUSP00000128109 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
G |
A |
7: 45,654,686 (GRCm39) |
A545V |
probably damaging |
Het |
Adam29 |
A |
T |
8: 56,325,902 (GRCm39) |
L184* |
probably null |
Het |
Ap1g1 |
C |
T |
8: 110,576,254 (GRCm39) |
A432V |
probably damaging |
Het |
Atrn |
C |
T |
2: 130,814,202 (GRCm39) |
T716I |
probably damaging |
Het |
Bahd1 |
C |
A |
2: 118,747,526 (GRCm39) |
Q382K |
possibly damaging |
Het |
Barhl2 |
A |
G |
5: 106,603,391 (GRCm39) |
V256A |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,561,511 (GRCm39) |
F1113L |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,485,901 (GRCm39) |
T38K |
probably benign |
Het |
Cmtm3 |
T |
C |
8: 105,071,437 (GRCm39) |
L111P |
probably damaging |
Het |
Col27a1 |
T |
C |
4: 63,236,492 (GRCm39) |
|
probably benign |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Flt1 |
C |
A |
5: 147,576,058 (GRCm39) |
R650L |
probably benign |
Het |
Fpr1 |
T |
A |
17: 18,096,915 (GRCm39) |
E358V |
probably benign |
Het |
Gldc |
T |
C |
19: 30,077,299 (GRCm39) |
T958A |
probably benign |
Het |
Gm3573 |
A |
G |
14: 42,009,452 (GRCm39) |
|
probably null |
Het |
Hspbp1 |
T |
C |
7: 4,684,840 (GRCm39) |
|
probably benign |
Het |
Jhy |
G |
T |
9: 40,828,471 (GRCm39) |
Y478* |
probably null |
Het |
Kiz |
A |
G |
2: 146,712,690 (GRCm39) |
E118G |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,300,492 (GRCm39) |
Y144C |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,810,674 (GRCm39) |
Y848F |
probably benign |
Het |
Mixl1 |
T |
C |
1: 180,522,269 (GRCm39) |
E204G |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,305,594 (GRCm39) |
C202S |
probably damaging |
Het |
Nfatc1 |
T |
C |
18: 80,741,113 (GRCm39) |
S282G |
probably damaging |
Het |
Or2j6 |
T |
A |
7: 139,980,575 (GRCm39) |
Y128F |
probably damaging |
Het |
Or5b111 |
T |
C |
19: 13,291,302 (GRCm39) |
M116V |
probably damaging |
Het |
Or5k8 |
C |
A |
16: 58,644,691 (GRCm39) |
C127F |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,505,281 (GRCm39) |
|
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,545,743 (GRCm39) |
I273T |
probably benign |
Het |
Pdzph1 |
G |
A |
17: 59,280,386 (GRCm39) |
T632I |
probably benign |
Het |
Phf1 |
A |
G |
17: 27,154,600 (GRCm39) |
Y225C |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,770 (GRCm39) |
Y410F |
probably damaging |
Het |
Prcp |
T |
C |
7: 92,550,382 (GRCm39) |
F60L |
probably damaging |
Het |
Psg21 |
C |
T |
7: 18,388,961 (GRCm39) |
V44I |
possibly damaging |
Het |
Ptgdr |
C |
T |
14: 45,096,071 (GRCm39) |
V214M |
probably damaging |
Het |
Pth1r |
G |
A |
9: 110,556,748 (GRCm39) |
R181W |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,286,585 (GRCm39) |
I343M |
probably damaging |
Het |
Retreg1 |
C |
T |
15: 25,895,204 (GRCm39) |
Q128* |
probably null |
Het |
Rrbp1 |
T |
C |
2: 143,791,679 (GRCm39) |
|
probably benign |
Het |
Skint5 |
T |
A |
4: 113,588,273 (GRCm39) |
M726L |
unknown |
Het |
Slc6a18 |
T |
C |
13: 73,818,114 (GRCm39) |
Y301C |
probably damaging |
Het |
Slc8a3 |
G |
A |
12: 81,250,930 (GRCm39) |
|
probably benign |
Het |
Tacr3 |
C |
A |
3: 134,535,232 (GRCm39) |
Q67K |
probably damaging |
Het |
Tfrc |
A |
T |
16: 32,443,640 (GRCm39) |
K534* |
probably null |
Het |
Timp3 |
T |
A |
10: 86,174,315 (GRCm39) |
M67K |
probably benign |
Het |
Tmem120a |
C |
T |
5: 135,765,628 (GRCm39) |
E179K |
probably damaging |
Het |
Tomm40l |
G |
A |
1: 171,049,216 (GRCm39) |
|
probably benign |
Het |
Tubal3 |
A |
G |
13: 3,980,554 (GRCm39) |
R89G |
probably benign |
Het |
Wdr35 |
A |
T |
12: 9,074,297 (GRCm39) |
N976I |
probably benign |
Het |
Zfp292 |
T |
C |
4: 34,805,416 (GRCm39) |
T2543A |
probably damaging |
Het |
Zfp976 |
T |
A |
7: 42,261,953 (GRCm39) |
H628L |
unknown |
Het |
Zmynd8 |
A |
G |
2: 165,675,325 (GRCm39) |
V301A |
probably damaging |
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 |
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 |
R0589:Ggnbp2
|
UTSW |
11 |
84,727,277 (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 |
|
Posted On |
2015-04-16 |