Incidental Mutation 'R5212:Ggnbp2'
| ID |
403197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
042786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R5212 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 84744847 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 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: 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: ENSMUST00000134043
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000165459
|
| 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: ENSMUST00000170741
|
| SMART Domains |
Protein: ENSMUSP00000128109
Gene: ENSMUSG00000020530
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,771,611 (GRCm39) |
S267T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 109,998,052 (GRCm39) |
D1514G |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,584,980 (GRCm39) |
D896V |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
| Arglu1 |
T |
A |
8: 8,733,843 (GRCm39) |
R158W |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,778,388 (GRCm39) |
E46G |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,613,055 (GRCm39) |
V1172A |
probably benign |
Het |
| Bhlhe23 |
T |
A |
2: 180,417,886 (GRCm39) |
K217N |
probably damaging |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Ccp110 |
C |
T |
7: 118,328,919 (GRCm39) |
A845V |
probably damaging |
Het |
| Cd63 |
A |
G |
10: 128,747,722 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,723,072 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
A |
5: 123,768,744 (GRCm39) |
R618S |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,843,739 (GRCm39) |
F1731L |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,390,923 (GRCm39) |
K728Q |
possibly damaging |
Het |
| Emc2 |
A |
G |
15: 43,374,240 (GRCm39) |
E180G |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,440,725 (GRCm39) |
I394F |
probably benign |
Het |
| Fnta |
A |
G |
8: 26,499,735 (GRCm39) |
I155T |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,685 (GRCm39) |
E331V |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,684 (GRCm39) |
E331D |
probably benign |
Het |
| Gas2l1 |
A |
T |
11: 5,011,108 (GRCm39) |
C574S |
probably benign |
Het |
| Gm3371 |
A |
C |
14: 44,641,111 (GRCm39) |
|
probably benign |
Het |
| Gm7489 |
T |
A |
15: 53,749,016 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
A |
C |
11: 57,722,273 (GRCm39) |
F114V |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,110,939 (GRCm39) |
H259P |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,262,245 (GRCm39) |
H183L |
probably benign |
Het |
| Kifbp |
A |
T |
10: 62,398,908 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,402 (GRCm39) |
A369D |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,484 (GRCm39) |
S301G |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,678,504 (GRCm39) |
T248A |
probably benign |
Het |
| Madcam1 |
C |
G |
10: 79,504,179 (GRCm39) |
T255S |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,929,775 (GRCm39) |
Y71H |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,455,850 (GRCm39) |
I107V |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,547 (GRCm39) |
F328S |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,944,373 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,063,342 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
A |
T |
14: 76,370,538 (GRCm39) |
N413I |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,178,793 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,698,279 (GRCm39) |
G419R |
probably benign |
Het |
| Rfx1 |
G |
T |
8: 84,793,221 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,839,045 (GRCm39) |
A68V |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,101,212 (GRCm39) |
M776K |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,450,238 (GRCm39) |
Y63N |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,319,178 (GRCm39) |
E320G |
probably damaging |
Het |
| Spaca6 |
C |
A |
17: 18,058,656 (GRCm39) |
P68Q |
probably benign |
Het |
| Tdrd3 |
G |
C |
14: 87,743,651 (GRCm39) |
R527P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,377,492 (GRCm39) |
Q202K |
probably benign |
Het |
| Tmprss6 |
A |
G |
15: 78,330,460 (GRCm39) |
V69A |
probably damaging |
Het |
| Trav6-1 |
A |
T |
14: 52,876,161 (GRCm39) |
Q27L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,731,957 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,619,945 (GRCm39) |
I15908V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,628,019 (GRCm39) |
D12931V |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,902 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,578,645 (GRCm39) |
N69S |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- TCTCATGAAAGAACAAACTTGGAATA -3'
(R):5'- ACCTTTCGCCTCATGTATGC -3'
Sequencing Primer
(F):5'- GGGCTCATAGATCCTGTCTCAAAAAG -3'
(R):5'- GCCTCATGTATGCCTCCTTTTCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation