Incidental Mutation 'R2161:Ggnbp2'
| ID |
235166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggnbp2
|
| Ensembl Gene |
ENSMUSG00000020530 |
| Gene Name |
gametogenetin binding protein 2 |
| Synonyms |
DIF-3, Zfp403, D330017P12Rik |
| MMRRC Submission |
040164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
R2161 (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 84725259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 639
(F639L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000154915]
[ENSMUST00000168434]
[ENSMUST00000172405]
[ENSMUST00000170741]
|
| AlphaFold |
Q5SV77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018547
AA Change: F639L
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: F639L
| 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
AA Change: F577L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: F577L
| 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
AA Change: F599L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: F599L
| 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 |
unknown
Transcript: ENSMUST00000132098
AA Change: F85L
|
| SMART Domains |
Protein: ENSMUSP00000129898
Gene: ENSMUSG00000020530
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154915
AA Change: F597L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: F597L
| 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: ENSMUST00000168267
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168434
AA Change: F597L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: F597L
| 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: ENSMUST00000172405
AA Change: F599L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: F599L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
| Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
| Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
| Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
| Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
| Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
| Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
| Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
| Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
| Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,610,760 (GRCm39) |
G5R |
probably null |
Het |
| Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
| Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
| Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
| Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
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 |
|
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'- GTGCTCCAGGAGTCACAAAAG -3'
(R):5'- TGGGAAATCTCTTGCCCTG -3'
Sequencing Primer
(F):5'- TCCAGGAGTCACAAAAGCCATGAG -3'
(R):5'- CCCTGATTTCAGATCCAAAAACTTGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation