Incidental Mutation 'R8257:Ggnbp2'
| ID |
640525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
067683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R8257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 84728815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000018547
|
| SMART Domains |
Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
| 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
|
| SMART Domains |
Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
| 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: ENSMUST00000132098
|
| SMART Domains |
Protein: ENSMUSP00000129898
Gene: ENSMUSG00000020530
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154915
|
| SMART Domains |
Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
| 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: ENSMUST00000168434
|
| SMART Domains |
Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
| 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: ENSMUST00000170741
|
| SMART Domains |
Protein: ENSMUSP00000128109
Gene: ENSMUSG00000020530
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172405
|
| SMART Domains |
Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,153 (GRCm39) |
K1350R |
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,060 (GRCm39) |
C70* |
probably null |
Het |
| Akr1c6 |
G |
A |
13: 4,488,525 (GRCm39) |
V97I |
probably benign |
Het |
| Alg9 |
A |
T |
9: 50,690,387 (GRCm39) |
I130F |
possibly damaging |
Het |
| Ankle2 |
G |
T |
5: 110,401,781 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
T |
3: 96,505,045 (GRCm39) |
H83L |
possibly damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,431 (GRCm39) |
T559A |
probably benign |
Het |
| Ate1 |
T |
C |
7: 130,069,037 (GRCm39) |
Y367C |
probably damaging |
Het |
| Atg9b |
C |
T |
5: 24,591,303 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,308,756 (GRCm39) |
S626P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,606 (GRCm39) |
N1069S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,921,962 (GRCm39) |
D753G |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,398 (GRCm39) |
E517G |
unknown |
Het |
| Chst5 |
A |
T |
8: 112,617,092 (GRCm39) |
V176E |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,299 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
G |
5: 104,324,867 (GRCm39) |
D410G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,602,908 (GRCm39) |
V2183E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,995 (GRCm39) |
V577A |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,288,133 (GRCm39) |
L119Q |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,932 (GRCm39) |
M96K |
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,502,211 (GRCm39) |
T237A |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,825 (GRCm39) |
V52I |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,896,586 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
T |
7: 30,766,766 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,396,030 (GRCm39) |
R455H |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,687,497 (GRCm39) |
T95A |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,259,684 (GRCm39) |
I351T |
possibly damaging |
Het |
| Ncdn |
A |
G |
4: 126,643,676 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,692,127 (GRCm39) |
E516G |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,297,962 (GRCm39) |
W70R |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,267 (GRCm39) |
D58V |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,028,769 (GRCm39) |
Y522C |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,678 (GRCm39) |
T238A |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,203 (GRCm39) |
M274T |
probably benign |
Het |
| Or2d3b |
A |
G |
7: 106,513,926 (GRCm39) |
I174V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,543 (GRCm39) |
N227S |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,868 (GRCm39) |
N529K |
probably benign |
Het |
| Pkmyt1 |
C |
T |
17: 23,953,148 (GRCm39) |
R235W |
probably benign |
Het |
| Prss43 |
T |
C |
9: 110,659,880 (GRCm39) |
S315P |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,345 (GRCm39) |
V237E |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,476 (GRCm39) |
Y844H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,764,064 (GRCm39) |
V3089I |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,865,394 (GRCm39) |
D294G |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,605,873 (GRCm39) |
T148S |
probably damaging |
Het |
| Spata25 |
T |
C |
2: 164,669,690 (GRCm39) |
D107G |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,208,901 (GRCm39) |
E132G |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,373 (GRCm39) |
H222R |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,304,629 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,279 (GRCm39) |
H407Q |
possibly damaging |
Het |
| Wdr36 |
T |
A |
18: 32,974,339 (GRCm39) |
|
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,137,288 (GRCm39) |
I544N |
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 |
|
|
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 |
|
|
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'- GTGTGTGCAACTCCAGCTCC -3'
(R):5'- GCATCTAGGAGGCACGTAGAA -3'
Sequencing Primer
(F):5'- TAAAGGTGTGTGTCAACATGCCC -3'
(R):5'- TGAAGCAATCCTCCTGTCTCAAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation