Incidental Mutation 'R5924:Ggnbp2'
ID |
501724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
MMRRC Submission |
044119-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R5924 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84749363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 144
(S144P)
|
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 benign
Transcript: ENSMUST00000018547
AA Change: S144P
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530 AA Change: S144P
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: ENSMUST00000100686
AA Change: S144P
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530 AA Change: S144P
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: S144P
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530 AA Change: S144P
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: ENSMUST00000134043
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154915
AA Change: S144P
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530 AA Change: S144P
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: ENSMUST00000165459
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168434
AA Change: S144P
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530 AA Change: S144P
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
384 |
N/A |
INTRINSIC |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172405
AA Change: S144P
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530 AA Change: S144P
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
C |
18: 10,706,085 (GRCm39) |
Y76C |
probably damaging |
Het |
Agbl1 |
C |
T |
7: 76,058,982 (GRCm39) |
T204I |
probably benign |
Het |
Apc2 |
A |
T |
10: 80,147,984 (GRCm39) |
I984F |
probably damaging |
Het |
Art3 |
A |
T |
5: 92,560,091 (GRCm39) |
|
probably benign |
Het |
B4galnt4 |
A |
G |
7: 140,650,742 (GRCm39) |
M839V |
probably damaging |
Het |
Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
Cdhr2 |
A |
C |
13: 54,874,496 (GRCm39) |
D856A |
probably benign |
Het |
Cep78 |
A |
T |
19: 15,938,430 (GRCm39) |
L506Q |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,554,205 (GRCm39) |
|
probably null |
Het |
Cyp3a44 |
A |
T |
5: 145,731,137 (GRCm39) |
F221Y |
possibly damaging |
Het |
Dcakd |
C |
A |
11: 102,890,646 (GRCm39) |
R47L |
probably benign |
Het |
Ddr2 |
A |
G |
1: 169,822,197 (GRCm39) |
V417A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,307,473 (GRCm39) |
T1734S |
probably benign |
Het |
Eefsec |
A |
T |
6: 88,332,529 (GRCm39) |
M227K |
probably damaging |
Het |
Eif4g3 |
T |
G |
4: 137,929,237 (GRCm39) |
N1628K |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,381,533 (GRCm39) |
Y439* |
probably null |
Het |
Esrp1 |
G |
T |
4: 11,361,174 (GRCm39) |
T324K |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,890,765 (GRCm38) |
M549K |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,992,442 (GRCm39) |
Q418L |
unknown |
Het |
Gk5 |
T |
C |
9: 96,032,563 (GRCm39) |
|
probably null |
Het |
Gpr137 |
A |
G |
19: 6,916,729 (GRCm39) |
L228P |
probably damaging |
Het |
Gpt2 |
C |
A |
8: 86,219,633 (GRCm39) |
S26R |
probably damaging |
Het |
Hras |
C |
T |
7: 140,772,374 (GRCm39) |
E91K |
possibly damaging |
Het |
Ighv1-36 |
G |
A |
12: 114,843,777 (GRCm39) |
P28S |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 34,064,203 (GRCm39) |
T807M |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,202,453 (GRCm39) |
T365A |
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,594,658 (GRCm39) |
S795T |
possibly damaging |
Het |
Magi2 |
A |
C |
5: 20,816,067 (GRCm39) |
M1128L |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,961,854 (GRCm39) |
|
probably null |
Het |
Mier1 |
T |
A |
4: 103,016,899 (GRCm39) |
L380* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,230,750 (GRCm39) |
Y118C |
probably damaging |
Het |
Myof |
A |
T |
19: 37,971,421 (GRCm39) |
M277K |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,503,403 (GRCm39) |
V473A |
probably damaging |
Het |
Nsfl1c |
T |
A |
2: 151,347,320 (GRCm39) |
N164K |
probably benign |
Het |
Olfm3 |
A |
T |
3: 114,916,187 (GRCm39) |
Q353L |
probably benign |
Het |
Opn5 |
A |
T |
17: 42,922,199 (GRCm39) |
M1K |
probably null |
Het |
Or2y3 |
A |
G |
17: 38,393,254 (GRCm39) |
V205A |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,139 (GRCm39) |
Y35C |
probably damaging |
Het |
Or5d41 |
T |
C |
2: 88,054,891 (GRCm39) |
I162V |
probably benign |
Het |
Pax8 |
A |
G |
2: 24,311,634 (GRCm39) |
S434P |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,023,389 (GRCm39) |
Q256* |
probably null |
Het |
Pik3ap1 |
A |
C |
19: 41,284,895 (GRCm39) |
F597V |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,646,424 (GRCm39) |
K744E |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,162,305 (GRCm39) |
T729A |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,813,582 (GRCm39) |
L652P |
probably damaging |
Het |
Sebox |
T |
C |
11: 78,395,017 (GRCm39) |
|
probably null |
Het |
Setd2 |
A |
T |
9: 110,403,112 (GRCm39) |
I1918F |
probably benign |
Het |
Slc24a2 |
A |
T |
4: 86,929,825 (GRCm39) |
|
probably null |
Het |
Slc28a1 |
G |
T |
7: 80,765,360 (GRCm39) |
G25V |
probably benign |
Het |
Slc51a |
A |
G |
16: 32,295,990 (GRCm39) |
F259L |
possibly damaging |
Het |
Slco2a1 |
T |
A |
9: 102,923,898 (GRCm39) |
C37* |
probably null |
Het |
Speer4f2 |
A |
G |
5: 17,581,622 (GRCm39) |
D188G |
probably damaging |
Het |
Stim2 |
A |
G |
5: 54,259,985 (GRCm39) |
K156E |
probably benign |
Het |
Strn4 |
T |
C |
7: 16,572,246 (GRCm39) |
I653T |
probably damaging |
Het |
Tacr3 |
G |
T |
3: 134,638,060 (GRCm39) |
D406Y |
possibly damaging |
Het |
Utp20 |
G |
A |
10: 88,651,784 (GRCm39) |
R400C |
probably benign |
Het |
V1rd19 |
C |
T |
7: 23,703,374 (GRCm39) |
S280L |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,296,685 (GRCm39) |
C700Y |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,803,543 (GRCm39) |
C514S |
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 |
|
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'- GTGACCTTACATAGCTCAATGCAG -3'
(R):5'- AGCTGGACTGGCTAGGTATG -3'
Sequencing Primer
(F):5'- GAACATGCTTATCTTGACATCAGTC -3'
(R):5'- CTGGACTGGCTAGGTATGGAGAG -3'
|
Posted On |
2017-12-01 |