Incidental Mutation 'R4662:Ggnbp2'
| ID |
352949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
042011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R4662 (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 84753072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 56
(F56L)
|
| 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 damaging
Transcript: ENSMUST00000018547
AA Change: F56L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: F56L
| 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 damaging
Transcript: ENSMUST00000100686
AA Change: F56L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: F56L
| 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 damaging
Transcript: ENSMUST00000108081
AA Change: F56L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: F56L
| 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 damaging
Transcript: ENSMUST00000154915
AA Change: F56L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: F56L
| 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 damaging
Transcript: ENSMUST00000166425
AA Change: F56L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168434
AA Change: F56L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: F56L
| 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 damaging
Transcript: ENSMUST00000172405
AA Change: F56L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: F56L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 |
|---|
| 4930590J08Rik |
A |
T |
6: 91,891,939 (GRCm39) |
Q67L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,080,116 (GRCm39) |
Y36F |
probably benign |
Het |
| Adrb1 |
A |
G |
19: 56,711,206 (GRCm39) |
T135A |
probably damaging |
Het |
| Ark2n |
T |
A |
18: 77,762,186 (GRCm39) |
Q42L |
probably benign |
Het |
| Asxl2 |
G |
T |
12: 3,477,193 (GRCm39) |
W13L |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
| Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,074,411 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,510 (GRCm39) |
S396P |
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
| Chek2 |
T |
A |
5: 111,014,908 (GRCm39) |
V459D |
probably damaging |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,203,672 (GRCm39) |
V1003A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,416 (GRCm39) |
F257L |
possibly damaging |
Het |
| Dnajc13 |
A |
C |
9: 104,084,957 (GRCm39) |
F819V |
probably damaging |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Dynlt1b |
A |
G |
17: 6,699,279 (GRCm39) |
T10A |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,727,390 (GRCm39) |
V1244E |
probably damaging |
Het |
| Ethe1 |
G |
A |
7: 24,293,405 (GRCm39) |
S17N |
probably benign |
Het |
| Foxi1 |
T |
C |
11: 34,157,578 (GRCm39) |
D149G |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,475 (GRCm39) |
E470G |
probably damaging |
Het |
| Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
| Hyal1 |
G |
A |
9: 107,456,420 (GRCm39) |
R369H |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcna2 |
T |
A |
3: 107,012,733 (GRCm39) |
I438N |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,388,054 (GRCm39) |
C3331* |
probably null |
Het |
| Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,883,162 (GRCm39) |
C439Y |
probably damaging |
Het |
| N4bp2l2 |
T |
C |
5: 150,574,160 (GRCm39) |
D85G |
probably damaging |
Het |
| Nr1h2 |
A |
G |
7: 44,199,855 (GRCm39) |
Y355H |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,868,167 (GRCm39) |
I322V |
probably benign |
Het |
| Nup153 |
A |
C |
13: 46,840,750 (GRCm39) |
L273V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,890,422 (GRCm39) |
L7370P |
unknown |
Het |
| Or1a1 |
T |
C |
11: 74,086,542 (GRCm39) |
I71T |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,980,222 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5k15 |
A |
G |
16: 58,710,287 (GRCm39) |
C99R |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,551,916 (GRCm39) |
D2041N |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,081,675 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ptprs |
G |
T |
17: 56,724,666 (GRCm39) |
T1118K |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,657,036 (GRCm39) |
T329I |
probably benign |
Het |
| Rhoh |
T |
A |
5: 66,050,157 (GRCm39) |
D142E |
probably benign |
Het |
| Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,181,332 (GRCm39) |
I64V |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,320,582 (GRCm39) |
W1333R |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,289 (GRCm39) |
T651S |
possibly damaging |
Het |
| Skint3 |
C |
A |
4: 112,134,863 (GRCm39) |
Y345* |
probably null |
Het |
| Slc1a7 |
T |
A |
4: 107,864,751 (GRCm39) |
N263K |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,789,267 (GRCm39) |
R1236C |
probably damaging |
Het |
| Tbx21 |
T |
C |
11: 96,992,393 (GRCm39) |
N226S |
probably benign |
Het |
| Thada |
A |
G |
17: 84,743,078 (GRCm39) |
L782P |
probably damaging |
Het |
| Tle1 |
T |
G |
4: 72,055,335 (GRCm39) |
I446L |
possibly damaging |
Het |
| Trgv1 |
T |
A |
13: 19,524,503 (GRCm39) |
L76I |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,877,469 (GRCm39) |
D1621G |
probably damaging |
Het |
| Trpm2 |
G |
C |
10: 77,773,972 (GRCm39) |
A481G |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,685,595 (GRCm39) |
M2240L |
probably benign |
Het |
| Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
| Vangl1 |
T |
C |
3: 102,074,238 (GRCm39) |
T290A |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,393 (GRCm39) |
I186F |
probably benign |
Het |
| Vmn2r102 |
G |
A |
17: 19,901,424 (GRCm39) |
C517Y |
probably damaging |
Het |
| Vrk2 |
G |
A |
11: 26,421,611 (GRCm39) |
T449M |
possibly damaging |
Het |
| Zfp518a |
A |
G |
19: 40,900,304 (GRCm39) |
S78G |
probably benign |
Het |
| Zscan25 |
T |
C |
5: 145,223,120 (GRCm39) |
S131P |
unknown |
Het |
| Zscan29 |
G |
A |
2: 120,997,096 (GRCm39) |
T140I |
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 |
|
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'- GTACACTATTAATACCTAGGCAGAAGC -3'
(R):5'- GCAGGAGACAATGTAGCTTTATAC -3'
Sequencing Primer
(F):5'- TCCAGAACATTTGGGACAGAATCTC -3'
(R):5'- CATGTTTCTGTCCTGATAGTTTATGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation