Incidental Mutation 'R5310:Ggnbp2'
ID |
404800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
MMRRC Submission |
042893-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R5310 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 84760794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000154915]
[ENSMUST00000166425]
[ENSMUST00000168434]
[ENSMUST00000172405]
[ENSMUST00000170741]
|
AlphaFold |
Q5SV77 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018547
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530 AA Change: M1T
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 null
Transcript: ENSMUST00000100686
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530 AA Change: M1T
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 null
Transcript: ENSMUST00000108081
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530 AA Change: M1T
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 null
Transcript: ENSMUST00000154915
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530 AA Change: M1T
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 null
Transcript: ENSMUST00000166425
AA Change: M1T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167429
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168434
AA Change: M1T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530 AA Change: M1T
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 null
Transcript: ENSMUST00000172405
AA Change: M1T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530 AA Change: M1T
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: ENSMUST00000170741
|
SMART Domains |
Protein: ENSMUSP00000128109 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9581 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
Validation Efficiency |
100% (74/74) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
T |
7: 119,931,839 (GRCm39) |
I31L |
possibly damaging |
Het |
Abca17 |
T |
C |
17: 24,500,204 (GRCm39) |
K1329R |
probably benign |
Het |
Acap2 |
A |
G |
16: 30,952,427 (GRCm39) |
Y197H |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,624,809 (GRCm39) |
V3720A |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,592,350 (GRCm39) |
S870T |
possibly damaging |
Het |
Anapc4 |
A |
G |
5: 53,016,501 (GRCm39) |
E493G |
probably benign |
Het |
Ap2a1 |
A |
G |
7: 44,555,489 (GRCm39) |
|
probably null |
Het |
Arhgef38 |
A |
G |
3: 132,822,227 (GRCm39) |
L179P |
probably damaging |
Het |
Bicral |
T |
C |
17: 47,124,909 (GRCm39) |
D630G |
possibly damaging |
Het |
Ccdc97 |
A |
T |
7: 25,415,201 (GRCm39) |
L154Q |
probably damaging |
Het |
Cd40 |
T |
C |
2: 164,905,483 (GRCm39) |
|
probably null |
Het |
Celsr1 |
T |
A |
15: 85,810,423 (GRCm39) |
N2155I |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,641,241 (GRCm39) |
L261H |
probably damaging |
Het |
Cep57 |
G |
A |
9: 13,730,164 (GRCm39) |
H98Y |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,755,805 (GRCm39) |
L247Q |
probably damaging |
Het |
Cyp2c40 |
T |
A |
19: 39,766,474 (GRCm39) |
M374L |
probably damaging |
Het |
Cyp4f13 |
T |
C |
17: 33,144,795 (GRCm39) |
D372G |
probably damaging |
Het |
Dazl |
C |
A |
17: 50,588,311 (GRCm39) |
S288I |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,311,474 (GRCm39) |
F1818L |
probably damaging |
Het |
Echdc1 |
T |
C |
10: 29,210,204 (GRCm39) |
V143A |
possibly damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,192,687 (GRCm39) |
H838Q |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,217 (GRCm39) |
D1223V |
probably damaging |
Het |
Fbxl2 |
A |
G |
9: 113,815,576 (GRCm39) |
I229T |
possibly damaging |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Glb1l2 |
C |
T |
9: 26,708,162 (GRCm39) |
|
probably benign |
Het |
Gnl2 |
A |
G |
4: 124,946,633 (GRCm39) |
K618R |
probably benign |
Het |
Greb1 |
A |
T |
12: 16,766,760 (GRCm39) |
I346K |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Gtse1 |
A |
G |
15: 85,757,993 (GRCm39) |
Q533R |
probably benign |
Het |
Hemgn |
A |
G |
4: 46,403,927 (GRCm39) |
S23P |
possibly damaging |
Het |
Htr6 |
G |
T |
4: 138,788,977 (GRCm39) |
H359Q |
probably damaging |
Het |
Ifit1 |
T |
C |
19: 34,626,204 (GRCm39) |
F447L |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,315,684 (GRCm39) |
Y118C |
possibly damaging |
Het |
Khk |
G |
A |
5: 31,084,373 (GRCm39) |
V118M |
probably benign |
Het |
Klra17 |
T |
A |
6: 129,845,671 (GRCm39) |
K181M |
probably damaging |
Het |
Lbh |
T |
C |
17: 73,228,287 (GRCm39) |
|
probably null |
Het |
Lmo2 |
T |
C |
2: 103,806,445 (GRCm39) |
I108T |
probably damaging |
Het |
Maco1 |
T |
C |
4: 134,564,330 (GRCm39) |
|
probably benign |
Het |
Mgat5 |
T |
A |
1: 127,315,251 (GRCm39) |
|
probably null |
Het |
Mink1 |
T |
C |
11: 70,498,169 (GRCm39) |
V525A |
probably benign |
Het |
Myo10 |
C |
A |
15: 25,778,164 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
C |
7: 5,328,007 (GRCm39) |
N682S |
probably benign |
Het |
Nr2e3 |
G |
A |
9: 59,856,617 (GRCm39) |
|
probably benign |
Het |
Or5p5 |
T |
C |
7: 107,414,171 (GRCm39) |
C129R |
probably damaging |
Het |
Or6b2b |
T |
C |
1: 92,418,758 (GRCm39) |
T240A |
probably damaging |
Het |
Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
Pfas |
G |
A |
11: 68,878,847 (GRCm39) |
S1319F |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,842,887 (GRCm39) |
K2024R |
probably damaging |
Het |
Pld4 |
G |
A |
12: 112,735,046 (GRCm39) |
C501Y |
probably damaging |
Het |
Psg16 |
C |
T |
7: 16,824,560 (GRCm39) |
R115W |
probably damaging |
Het |
Rab3gap1 |
G |
A |
1: 127,870,110 (GRCm39) |
|
probably null |
Het |
Rimkla |
C |
A |
4: 119,335,049 (GRCm39) |
K111N |
probably damaging |
Het |
Rrm2b |
T |
C |
15: 37,927,571 (GRCm39) |
E113G |
probably damaging |
Het |
Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
Skint6 |
C |
A |
4: 113,041,965 (GRCm39) |
E292* |
probably null |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,134,373 (GRCm39) |
M170T |
probably benign |
Het |
Slc15a5 |
T |
C |
6: 138,050,034 (GRCm39) |
N127S |
probably benign |
Het |
Slc39a10 |
G |
A |
1: 46,875,285 (GRCm39) |
H6Y |
probably damaging |
Het |
Spata31e2 |
A |
C |
1: 26,724,169 (GRCm39) |
V337G |
probably benign |
Het |
Sugct |
A |
T |
13: 17,427,145 (GRCm39) |
C338* |
probably null |
Het |
Tbk1 |
A |
T |
10: 121,391,956 (GRCm39) |
M486K |
probably benign |
Het |
Terf1 |
A |
T |
1: 15,875,909 (GRCm39) |
E3V |
probably damaging |
Het |
Thoc5 |
T |
A |
11: 4,860,648 (GRCm39) |
Y246N |
probably damaging |
Het |
Tmem167b |
G |
A |
3: 108,469,415 (GRCm39) |
|
probably benign |
Het |
Tmtc1 |
T |
A |
6: 148,256,910 (GRCm39) |
|
probably benign |
Het |
Zfp322a |
A |
T |
13: 23,541,532 (GRCm39) |
M70K |
possibly damaging |
Het |
Zfp979 |
A |
T |
4: 147,698,375 (GRCm39) |
H111Q |
possibly 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 |
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 |
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 |
|
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 |
PCR Primer
(F):5'- AAACAGCGTCTCAAAGGCAG -3'
(R):5'- TTTCACCCGTGGCGAATGTG -3'
Sequencing Primer
(F):5'- AGGAGTTGCAACACACTCTTTC -3'
(R):5'- GGCGAATGTGCTGCGAG -3'
|
Posted On |
2016-07-22 |