Incidental Mutation 'R2879:Ggnbp2'
| ID |
477052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
040467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R2879 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 84723797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000047560]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000151496]
[ENSMUST00000172405]
[ENSMUST00000168434]
[ENSMUST00000154915]
[ENSMUST00000170741]
|
| AlphaFold |
Q5SV77 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000047560
|
| SMART Domains |
Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
12 |
214 |
1.4e-46 |
PFAM |
|
Pfam:KR
|
13 |
154 |
1.7e-11 |
PFAM |
|
Pfam:Epimerase
|
14 |
251 |
4.8e-7 |
PFAM |
|
Pfam:adh_short_C2
|
18 |
245 |
1.8e-16 |
PFAM |
|
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000126016
|
| 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 benign
Transcript: ENSMUST00000151496
|
| SMART Domains |
Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
12 |
49 |
6.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168267
|
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
probably benign
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 benign
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 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,800 (GRCm39) |
Y214* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,026,353 (GRCm39) |
|
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,242,598 (GRCm39) |
H890Q |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,833,158 (GRCm39) |
L112Q |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,351,114 (GRCm39) |
|
probably null |
Het |
| Chchd4 |
A |
G |
6: 91,442,200 (GRCm39) |
S73P |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,924 (GRCm39) |
K139E |
possibly damaging |
Het |
| Cyp2b13 |
T |
G |
7: 25,785,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,248,448 (GRCm39) |
I71V |
possibly damaging |
Het |
| Epor |
A |
T |
9: 21,870,936 (GRCm39) |
W315R |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,833,809 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,202,314 (GRCm39) |
C1280S |
probably damaging |
Het |
| Fbxo2 |
G |
C |
4: 148,250,468 (GRCm39) |
R269P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,894,120 (GRCm39) |
L61Q |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,458,260 (GRCm39) |
E266K |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,013,092 (GRCm39) |
M439K |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,784 (GRCm39) |
V246M |
probably benign |
Het |
| Lrrc32 |
A |
G |
7: 98,148,984 (GRCm39) |
Q588R |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Med13 |
C |
T |
11: 86,189,988 (GRCm39) |
A974T |
possibly damaging |
Het |
| Mogat2 |
A |
T |
7: 98,871,573 (GRCm39) |
I246N |
possibly damaging |
Het |
| Myl2 |
T |
C |
5: 122,242,748 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or1p1c |
T |
A |
11: 74,161,049 (GRCm39) |
V278D |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,225,029 (GRCm39) |
Y145H |
probably benign |
Het |
| Plg |
A |
G |
17: 12,622,987 (GRCm39) |
E509G |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,048,936 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
G |
5: 124,526,635 (GRCm39) |
M960T |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,080,084 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
G |
A |
7: 4,939,906 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
C |
T |
15: 100,449,201 (GRCm39) |
|
probably null |
Het |
| Tmem121 |
A |
G |
12: 113,152,028 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,880,788 (GRCm39) |
I161V |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,010,783 (GRCm39) |
F523L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,601,849 (GRCm39) |
|
silent |
Het |
| Ttpal |
A |
G |
2: 163,457,503 (GRCm39) |
|
probably null |
Het |
| Vdr |
T |
A |
15: 97,757,008 (GRCm39) |
Y288F |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,480 (GRCm39) |
A302V |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,253,163 (GRCm39) |
C3G |
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 |
|
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 |
2017-05-15 |
Incidental Mutation