Incidental Mutation 'R6700:Ggnbp2'
ID |
528229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
MMRRC Submission |
044818-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R6700 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84730931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 364
(R364L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000154915]
[ENSMUST00000172405]
[ENSMUST00000168434]
[ENSMUST00000170741]
|
AlphaFold |
Q5SV77 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018547
AA Change: R406L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530 AA Change: R406L
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 damaging
Transcript: ENSMUST00000100686
AA Change: R364L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530 AA Change: R364L
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: R366L
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530 AA Change: R366L
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 damaging
Transcript: ENSMUST00000154915
AA Change: R364L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530 AA Change: R364L
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: ENSMUST00000168267
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172405
AA Change: R366L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530 AA Change: R366L
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 damaging
Transcript: ENSMUST00000168434
AA Change: R364L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530 AA Change: R364L
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 |
|
Meta Mutation Damage Score |
0.0821 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (62/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,611 (GRCm39) |
L495P |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
Tbx5 |
A |
G |
5: 120,009,462 (GRCm39) |
T324A |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,756,785 (GRCm39) |
D71G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,831 (GRCm39) |
Q155R |
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 |
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'- ACCCATGATTTTGGAGGAAAAGC -3'
(R):5'- GCTTTACGTAAGAGCTTTGAGG -3'
Sequencing Primer
(F):5'- CCATGATTTTGGAGGAAAAGCCATAC -3'
(R):5'- AGGTAAGTGGATCGCTTCTGAC -3'
|
Posted On |
2018-07-24 |