Incidental Mutation 'R8511:Ggnbp2'
ID |
655889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
MMRRC Submission |
067888-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R8511 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930512M02Rik |
T |
C |
11: 11,540,056 (GRCm39) |
H186R |
unknown |
Het |
6430548M08Rik |
A |
G |
8: 120,879,301 (GRCm39) |
N233S |
probably benign |
Het |
Acan |
A |
G |
7: 78,747,683 (GRCm39) |
D818G |
possibly damaging |
Het |
Adam22 |
G |
A |
5: 8,184,558 (GRCm39) |
T478I |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,490,897 (GRCm39) |
M481V |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,294,396 (GRCm39) |
*115R |
probably null |
Het |
Ahnak |
A |
G |
19: 8,989,719 (GRCm39) |
K3668E |
unknown |
Het |
Aldh6a1 |
G |
A |
12: 84,480,745 (GRCm39) |
T430I |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,626,468 (GRCm39) |
D17G |
|
Het |
Apol10b |
T |
C |
15: 77,469,211 (GRCm39) |
E322G |
probably benign |
Het |
Apol10b |
C |
G |
15: 77,469,210 (GRCm39) |
E322D |
probably benign |
Het |
Apol8 |
C |
T |
15: 77,634,273 (GRCm39) |
G101E |
probably benign |
Het |
Arhgef26 |
A |
T |
3: 62,336,350 (GRCm39) |
M630L |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,385,046 (GRCm39) |
L230P |
probably damaging |
Het |
Atg101 |
T |
C |
15: 101,188,503 (GRCm39) |
S203P |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,732,158 (GRCm39) |
T1996S |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
Cad |
A |
G |
5: 31,233,165 (GRCm39) |
K1869R |
probably benign |
Het |
Caskin1 |
A |
T |
17: 24,724,910 (GRCm39) |
I1233F |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,445,492 (GRCm39) |
L1770I |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,791,969 (GRCm39) |
N67S |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,262,692 (GRCm39) |
N626S |
|
Het |
Cuedc2 |
C |
A |
19: 46,319,358 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
A |
T |
7: 130,703,742 (GRCm39) |
N1275Y |
unknown |
Het |
Dnm3 |
A |
G |
1: 162,113,611 (GRCm39) |
V483A |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,864,801 (GRCm39) |
H718Q |
probably benign |
Het |
Dock9 |
T |
C |
14: 121,918,847 (GRCm39) |
D50G |
probably damaging |
Het |
Egfr |
T |
G |
11: 16,846,949 (GRCm39) |
I782S |
probably damaging |
Het |
Elmod1 |
A |
T |
9: 53,820,095 (GRCm39) |
F298I |
probably damaging |
Het |
Enthd1 |
T |
C |
15: 80,358,428 (GRCm39) |
Q364R |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,200,063 (GRCm39) |
S1004C |
probably damaging |
Het |
Fga |
A |
T |
3: 82,939,064 (GRCm39) |
K480* |
probably null |
Het |
Fhod3 |
A |
G |
18: 25,265,994 (GRCm39) |
T1561A |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,431,868 (GRCm39) |
Y200* |
probably null |
Het |
Foxj2 |
C |
T |
6: 122,808,404 (GRCm39) |
R115* |
probably null |
Het |
Gpsm2 |
A |
G |
3: 108,589,399 (GRCm39) |
S580P |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,834,654 (GRCm39) |
S870P |
probably benign |
Het |
Hic2 |
T |
A |
16: 17,075,874 (GRCm39) |
N234K |
possibly damaging |
Het |
Ica1 |
A |
G |
6: 8,754,726 (GRCm39) |
F15L |
probably benign |
Het |
Immp1l |
G |
A |
2: 105,761,100 (GRCm39) |
R3H |
probably benign |
Het |
Iqca1l |
T |
A |
5: 24,750,906 (GRCm39) |
H559L |
possibly damaging |
Het |
Jak3 |
T |
A |
8: 72,138,194 (GRCm39) |
Y882N |
probably damaging |
Het |
Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
Luzp1 |
A |
G |
4: 136,268,650 (GRCm39) |
D291G |
probably damaging |
Het |
Map3k19 |
C |
T |
1: 127,775,155 (GRCm39) |
E61K |
possibly damaging |
Het |
Mical3 |
A |
G |
6: 121,015,513 (GRCm39) |
I175T |
possibly damaging |
Het |
Nectin3 |
G |
A |
16: 46,284,363 (GRCm39) |
P107L |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
Pira1 |
A |
G |
7: 3,742,347 (GRCm39) |
L60P |
probably damaging |
Het |
Polr1a |
C |
A |
6: 71,897,504 (GRCm39) |
H207N |
probably benign |
Het |
Prokr2 |
A |
G |
2: 132,223,422 (GRCm39) |
V40A |
probably benign |
Het |
Prtg |
T |
C |
9: 72,798,156 (GRCm39) |
|
probably null |
Het |
Ptprs |
G |
A |
17: 56,754,440 (GRCm39) |
T200I |
probably damaging |
Het |
Ramp3 |
C |
T |
11: 6,626,709 (GRCm39) |
R139C |
probably benign |
Het |
Scfd2 |
A |
G |
5: 74,372,949 (GRCm39) |
V642A |
possibly damaging |
Het |
Scn11a |
T |
C |
9: 119,618,981 (GRCm39) |
K787R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,952,990 (GRCm39) |
V523A |
probably benign |
Het |
Smo |
A |
G |
6: 29,755,531 (GRCm39) |
Y401C |
probably damaging |
Het |
Stmn2 |
A |
G |
3: 8,574,615 (GRCm39) |
|
probably benign |
Het |
Stra6l |
G |
T |
4: 45,885,347 (GRCm39) |
G605V |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,055,647 (GRCm39) |
I4170V |
probably benign |
Het |
Tgm7 |
T |
A |
2: 120,924,141 (GRCm39) |
I594F |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,423,830 (GRCm39) |
L648P |
probably damaging |
Het |
Tmprss2 |
G |
T |
16: 97,369,662 (GRCm39) |
L371I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,579,866 (GRCm39) |
R23676G |
probably damaging |
Het |
Tvp23b |
T |
C |
11: 62,774,563 (GRCm39) |
I69T |
possibly damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,614,443 (GRCm39) |
D721V |
probably damaging |
Het |
Zan |
A |
T |
5: 137,445,108 (GRCm39) |
V1717E |
unknown |
Het |
Zmiz2 |
C |
T |
11: 6,353,190 (GRCm39) |
H658Y |
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 |
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 |
|
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 |
|
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'- CTTCCACAGGACCCAGGGT -3'
(R):5'- CTCCTGTCTCAAATGCTGGGATTA -3'
Sequencing Primer
(F):5'- TAAAGGTGTGTGTCAACATGCCC -3'
(R):5'- CTGGGATTACTGACATGAGCCTC -3'
|
Posted On |
2020-10-20 |