Incidental Mutation 'R3726:Ggnbp2'
ID |
270801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ggnbp2
|
Ensembl Gene |
ENSMUSG00000020530 |
Gene Name |
gametogenetin binding protein 2 |
Synonyms |
DIF-3, Zfp403, D330017P12Rik |
MMRRC Submission |
040717-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.878)
|
Stock # |
R3726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84723187-84761643 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84744920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 201
(C201R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000154915]
[ENSMUST00000168434]
[ENSMUST00000172405]
[ENSMUST00000170741]
|
AlphaFold |
Q5SV77 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018547
AA Change: C243R
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530 AA Change: C243R
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 |
possibly damaging
Transcript: ENSMUST00000100686
AA Change: C201R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530 AA Change: C201R
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: C201R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530 AA Change: C201R
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 |
possibly damaging
Transcript: ENSMUST00000154915
AA Change: C201R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530 AA Change: C201R
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 |
possibly damaging
Transcript: ENSMUST00000168434
AA Change: C201R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530 AA Change: C201R
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: C201R
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530 AA Change: C201R
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 |
|
Meta Mutation Damage Score |
0.0759 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,988,669 (GRCm39) |
H497R |
probably damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
Iqcg |
C |
T |
16: 32,849,411 (GRCm39) |
E292K |
probably damaging |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
Rars2 |
A |
G |
4: 34,645,787 (GRCm39) |
T235A |
probably benign |
Het |
Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
Rnf216 |
A |
T |
5: 143,013,701 (GRCm39) |
I708N |
probably damaging |
Het |
Six5 |
T |
A |
7: 18,830,855 (GRCm39) |
V494E |
possibly damaging |
Het |
Slc43a2 |
A |
G |
11: 75,433,980 (GRCm39) |
|
probably benign |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
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'- AACTGCCTATCATGACCCCTCG -3'
(R):5'- TGTACTGCAGTGAAGGGAGC -3'
Sequencing Primer
(F):5'- CCCTCGGTGCAGATATTAACAGG -3'
(R):5'- GGACAGCAAGTGTAGGATCATTTTCC -3'
|
Posted On |
2015-03-18 |