Incidental Mutation 'R8551:Ggnbp2'
| ID |
659873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
068516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R8551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 84732351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 247
(Y247*)
|
| 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 null
Transcript: ENSMUST00000018547
AA Change: Y289*
|
| SMART Domains |
Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: Y289*
| 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
AA Change: Y247*
|
| SMART Domains |
Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: Y247*
| 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 null
Transcript: ENSMUST00000108081
AA Change: Y247*
|
| SMART Domains |
Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: Y247*
| 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 null
Transcript: ENSMUST00000154915
AA Change: Y247*
|
| SMART Domains |
Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: Y247*
| 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 null
Transcript: ENSMUST00000168434
AA Change: Y247*
|
| SMART Domains |
Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: Y247*
| 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 null
Transcript: ENSMUST00000172405
AA Change: Y247*
|
| SMART Domains |
Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: Y247*
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
G |
A |
7: 82,189,678 (GRCm39) |
R634H |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,496,227 (GRCm39) |
I1493K |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,155,360 (GRCm39) |
S303P |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,062 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,881,829 (GRCm39) |
C467F |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,285,351 (GRCm39) |
T811A |
possibly damaging |
Het |
| Galr1 |
T |
A |
18: 82,424,191 (GRCm39) |
I29F |
probably benign |
Het |
| Gata3 |
C |
A |
2: 9,867,994 (GRCm39) |
C320F |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,682,735 (GRCm39) |
Q307R |
probably damaging |
Het |
| Hbp1 |
T |
C |
12: 31,980,709 (GRCm39) |
T465A |
probably damaging |
Het |
| Liph |
C |
G |
16: 21,800,158 (GRCm39) |
G152R |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,093,446 (GRCm39) |
S656P |
probably damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,163,844 (GRCm39) |
N85I |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,808,645 (GRCm39) |
I105N |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,764,488 (GRCm39) |
T159A |
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,430,326 (GRCm39) |
L152* |
probably null |
Het |
| Map3k20 |
T |
G |
2: 72,232,704 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
G |
T |
9: 88,570,943 (GRCm39) |
R102S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,337,277 (GRCm39) |
S391R |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,979,996 (GRCm39) |
D128G |
probably benign |
Het |
| Nlrp14 |
C |
T |
7: 106,782,359 (GRCm39) |
R519C |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,109 (GRCm39) |
I151T |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Oxtr |
T |
C |
6: 112,465,939 (GRCm39) |
K274E |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,103 (GRCm39) |
K32R |
probably damaging |
Het |
| Relt |
T |
C |
7: 100,512,409 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,575,479 (GRCm39) |
I4840F |
possibly damaging |
Het |
| Sccpdh |
T |
A |
1: 179,509,013 (GRCm39) |
Y27N |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,050 (GRCm39) |
S343P |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,971 (GRCm39) |
D950G |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,207,199 (GRCm39) |
Y115H |
probably damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,993 (GRCm39) |
V198A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,024 (GRCm39) |
D159G |
probably benign |
Het |
| Trim69 |
A |
G |
2: 122,003,810 (GRCm39) |
D253G |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,768,900 (GRCm39) |
F359I |
possibly damaging |
Het |
| Twist1 |
C |
T |
12: 34,008,103 (GRCm39) |
R43W |
unknown |
Het |
| Usp19 |
A |
T |
9: 108,376,496 (GRCm39) |
E1026V |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,397 (GRCm39) |
Y417C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,603,122 (GRCm39) |
I689V |
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 |
|
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 |
|
|
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'- TTTCCAAACTAAGGACCAGAGG -3'
(R):5'- CCAGTCGACAAAGCTGCATTC -3'
Sequencing Primer
(F):5'- TGTACACTTATGTAGTAAGGCATAGG -3'
(R):5'- GTCGACAAAGCTGCATTCATGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation