Incidental Mutation 'R1413:Ggnbp2'
| ID |
159716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
039469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R1413 (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 84723955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 638
(Y638H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000047560]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000151496]
[ENSMUST00000168434]
[ENSMUST00000154915]
[ENSMUST00000172405]
[ENSMUST00000170741]
|
| AlphaFold |
Q5SV77 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018547
AA Change: Y700H
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: Y700H
| 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 damaging
Transcript: ENSMUST00000100686
AA Change: Y638H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: Y638H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
351 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108081
AA Change: Y660H
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: Y660H
| 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 |
possibly damaging
Transcript: ENSMUST00000168434
AA Change: Y658H
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: Y658H
| 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: ENSMUST00000154915
AA Change: Y658H
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: Y658H
| 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: Y660H
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: Y660H
| 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: ENSMUST00000168267
|
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,573,245 (GRCm39) |
N1051D |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,536,222 (GRCm39) |
V1504A |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,564,019 (GRCm39) |
Y84* |
probably null |
Het |
| Adgrl3 |
T |
C |
5: 81,841,366 (GRCm39) |
Y816H |
probably damaging |
Het |
| Ahcyl2 |
T |
C |
6: 29,768,586 (GRCm39) |
|
probably benign |
Het |
| Amd1 |
A |
T |
10: 40,166,404 (GRCm39) |
C157* |
probably null |
Het |
| Ank1 |
G |
A |
8: 23,609,393 (GRCm39) |
E1362K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,391 (GRCm39) |
Q1018R |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,106,911 (GRCm39) |
T803I |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,814,495 (GRCm39) |
L2064R |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,264 (GRCm39) |
L229Q |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,403,892 (GRCm39) |
*54W |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,627,491 (GRCm39) |
N111K |
possibly damaging |
Het |
| Cfap61 |
T |
A |
2: 145,805,363 (GRCm39) |
S154T |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,542 (GRCm39) |
S127T |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,892,913 (GRCm39) |
D309E |
probably benign |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,335 (GRCm39) |
D166G |
unknown |
Het |
| Dmbt1 |
T |
A |
7: 130,651,944 (GRCm39) |
D395E |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,555 (GRCm39) |
S2832G |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fah |
T |
C |
7: 84,242,420 (GRCm39) |
D296G |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,593,504 (GRCm39) |
N346S |
probably damaging |
Het |
| Fgl1 |
T |
A |
8: 41,644,638 (GRCm39) |
T289S |
possibly damaging |
Het |
| Fmo1 |
A |
C |
1: 162,661,431 (GRCm39) |
L284R |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,430 (GRCm39) |
M1819K |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,852 (GRCm39) |
W269R |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,853 (GRCm39) |
I293F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,929,580 (GRCm39) |
N20S |
probably benign |
Het |
| Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,091 (GRCm39) |
K382E |
possibly damaging |
Het |
| Hook3 |
T |
A |
8: 26,528,134 (GRCm39) |
E585D |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,613 (GRCm39) |
M401I |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Lactb |
T |
A |
9: 66,878,201 (GRCm39) |
R209S |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,368,212 (GRCm39) |
D342G |
probably damaging |
Het |
| Mmachc |
T |
C |
4: 116,563,194 (GRCm39) |
S54G |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,350,977 (GRCm39) |
W573C |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,697,011 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,182 (GRCm39) |
Y95F |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,418,610 (GRCm39) |
I289N |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,124 (GRCm39) |
D462E |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,416,496 (GRCm39) |
F210I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,487,443 (GRCm39) |
|
probably null |
Het |
| Prkce |
T |
A |
17: 86,803,446 (GRCm39) |
D448E |
possibly damaging |
Het |
| Ptprb |
C |
A |
10: 116,175,584 (GRCm39) |
T1193K |
probably damaging |
Het |
| Qrfpr |
T |
A |
3: 36,236,809 (GRCm39) |
E197D |
possibly damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,568 (GRCm39) |
C625S |
probably benign |
Het |
| Shcbp1 |
T |
G |
8: 4,791,968 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
A |
11: 78,196,143 (GRCm39) |
C449* |
probably null |
Het |
| Stpg3 |
T |
C |
2: 25,103,862 (GRCm39) |
D158G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,590 (GRCm39) |
Y1423C |
probably benign |
Het |
| Tiprl |
C |
T |
1: 165,043,359 (GRCm39) |
E256K |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,631 (GRCm39) |
V934D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,261,982 (GRCm39) |
V434A |
probably benign |
Het |
| Usp11 |
A |
G |
X: 20,584,946 (GRCm39) |
Y731C |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,387 (GRCm39) |
I419L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,139,422 (GRCm39) |
R72L |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,426,201 (GRCm39) |
D2525G |
unknown |
Het |
| Zfp280c |
A |
G |
X: 47,652,715 (GRCm39) |
V285A |
probably benign |
Het |
| Zfp511 |
T |
A |
7: 139,617,528 (GRCm39) |
F177I |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,720 (GRCm39) |
M107V |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,760,256 (GRCm39) |
Y122H |
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 |
|
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 |
|
|
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'- AATGAGGTTACCTCCACCGTCTCC -3'
(R):5'- GCCCCACCAAGCATAGTGTTTTGC -3'
Sequencing Primer
(F):5'- TTGCCAGAAGTCACTAAATTAGGAG -3'
(R):5'- GCATTTTTTGTCATGGTCTTAACTAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation