Incidental Mutation 'R7761:Ggnbp2'
| ID |
628565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
045817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R7761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
| Type of Mutation |
splice site (64 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 84730803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098252
(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 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 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 |
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: 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 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (72/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,369,447 (GRCm39) |
C378Y |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,497,895 (GRCm39) |
L421R |
probably damaging |
Het |
| AI837181 |
A |
G |
19: 5,476,319 (GRCm39) |
T161A |
probably benign |
Het |
| Ascl2 |
A |
G |
7: 142,521,840 (GRCm39) |
S203P |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,052,580 (GRCm39) |
W364L |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,293,186 (GRCm39) |
T245A |
possibly damaging |
Het |
| Cfap99 |
C |
T |
5: 34,480,774 (GRCm39) |
Q475* |
probably null |
Het |
| Chmp2b |
G |
A |
16: 65,343,745 (GRCm39) |
T104I |
possibly damaging |
Het |
| Cimap1c |
A |
G |
9: 56,759,822 (GRCm39) |
L16P |
unknown |
Het |
| Cln3 |
A |
T |
7: 126,180,886 (GRCm39) |
Y52N |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,519,340 (GRCm39) |
Y416C |
possibly damaging |
Het |
| Creb3l3 |
T |
C |
10: 80,920,833 (GRCm39) |
D399G |
possibly damaging |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,707 (GRCm39) |
K303* |
probably null |
Het |
| Dbnl |
A |
G |
11: 5,738,597 (GRCm39) |
Q13R |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,987,648 (GRCm39) |
Q2418L |
probably damaging |
Het |
| Echs1 |
A |
T |
7: 139,692,378 (GRCm39) |
I123N |
probably damaging |
Het |
| Exd2 |
T |
C |
12: 80,522,546 (GRCm39) |
S2P |
probably damaging |
Het |
| F2rl1 |
A |
G |
13: 95,650,382 (GRCm39) |
F167L |
probably damaging |
Het |
| Fam83g |
C |
A |
11: 61,575,584 (GRCm39) |
D75E |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
| Gm10283 |
A |
T |
8: 60,954,236 (GRCm39) |
|
probably null |
Het |
| Gm14410 |
T |
C |
2: 176,885,527 (GRCm39) |
N246D |
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,249 (GRCm39) |
Q59L |
probably damaging |
Het |
| Hic1 |
C |
T |
11: 75,058,200 (GRCm39) |
A230T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,598,196 (GRCm39) |
L1702P |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,955 (GRCm39) |
Y773N |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,363,853 (GRCm39) |
R583* |
probably null |
Het |
| Lrch4 |
T |
A |
5: 137,638,025 (GRCm39) |
H102Q |
|
Het |
| Ltn1 |
T |
C |
16: 87,208,681 (GRCm39) |
T806A |
probably benign |
Het |
| Luc7l2 |
G |
A |
6: 38,531,999 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,728,055 (GRCm39) |
I25T |
unknown |
Het |
| Muc16 |
G |
T |
9: 18,491,870 (GRCm39) |
T6727N |
probably damaging |
Het |
| Nalcn |
C |
A |
14: 123,531,791 (GRCm39) |
G1353V |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,531,792 (GRCm39) |
G1353R |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,358,500 (GRCm39) |
P2476S |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,330,550 (GRCm39) |
T233A |
probably damaging |
Het |
| Nobox |
G |
A |
6: 43,281,125 (GRCm39) |
Q450* |
probably null |
Het |
| Nostrin |
T |
G |
2: 68,991,466 (GRCm39) |
L153R |
possibly damaging |
Het |
| Nup160 |
T |
C |
2: 90,533,456 (GRCm39) |
V635A |
probably benign |
Het |
| Opn4 |
T |
A |
14: 34,320,809 (GRCm39) |
M84L |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
| Or4f53 |
T |
C |
2: 111,087,519 (GRCm39) |
S20P |
possibly damaging |
Het |
| Or4k77 |
C |
T |
2: 111,199,138 (GRCm39) |
H54Y |
probably benign |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,775,926 (GRCm39) |
I184T |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,841,884 (GRCm39) |
Q13R |
probably benign |
Het |
| Pax6 |
T |
G |
2: 105,522,036 (GRCm39) |
F231C |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,079,347 (GRCm39) |
Y30H |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,393,280 (GRCm39) |
T1872A |
probably benign |
Het |
| Pln |
T |
C |
10: 53,220,005 (GRCm39) |
S16P |
probably damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,022,080 (GRCm39) |
E308K |
probably damaging |
Het |
| Prp2 |
C |
T |
6: 132,577,306 (GRCm39) |
Q198* |
probably null |
Het |
| Ptpn20 |
T |
A |
14: 33,344,509 (GRCm39) |
S144R |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,404,492 (GRCm39) |
F10L |
probably benign |
Het |
| Rapgefl1 |
A |
T |
11: 98,728,485 (GRCm39) |
D169V |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,460 (GRCm39) |
Y811H |
possibly damaging |
Het |
| Rcor1 |
T |
A |
12: 111,076,297 (GRCm39) |
F418L |
|
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,332,282 (GRCm39) |
T520A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,359,798 (GRCm39) |
T137S |
possibly damaging |
Het |
| Sgo2b |
T |
C |
8: 64,379,946 (GRCm39) |
N962S |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,439,141 (GRCm39) |
I465N |
probably benign |
Het |
| Spcs1 |
T |
A |
14: 30,723,607 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,860 (GRCm39) |
V2039A |
probably benign |
Het |
| Syt11 |
G |
T |
3: 88,669,778 (GRCm39) |
T38K |
possibly damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,914,468 (GRCm39) |
C454S |
probably damaging |
Het |
| Tfap2a |
G |
C |
13: 40,878,656 (GRCm39) |
H155D |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,149,565 (GRCm39) |
K273R |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,964 (GRCm39) |
V95E |
possibly damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,741 (GRCm39) |
A467T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,550,274 (GRCm39) |
T31636A |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,370,814 (GRCm39) |
V420A |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,940,826 (GRCm39) |
D31G |
probably benign |
Het |
| Vps35 |
T |
C |
8: 86,010,707 (GRCm39) |
E212G |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 176,957,310 (GRCm39) |
I63V |
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 |
|
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 |
|
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'- TAAGTGGTCTAGGTCAGTCACAAAG -3'
(R):5'- CAGGGTATTAGCCGCTTGGAAC -3'
Sequencing Primer
(F):5'- TAGGTCAGTCACAAAGAAAATAATCC -3'
(R):5'- CAACTTTGTGAGGAATTTTCAGAGG -3'
|
| Posted On |
2020-05-05 |
Incidental Mutation