Incidental Mutation 'R1178:Syngap1'
ID |
100185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syngap1
|
Ensembl Gene |
ENSMUSG00000067629 |
Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
Synonyms |
Syngap |
MMRRC Submission |
039250-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1178 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
27160227-27191408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27176779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 314
(N314D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000201702]
[ENSMUST00000202939]
[ENSMUST00000229490]
[ENSMUST00000231853]
[ENSMUST00000228963]
|
AlphaFold |
F6SEU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081285
AA Change: N428D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080038 Gene: ENSMUSG00000067629 AA Change: N428D
Domain | Start | End | E-Value | Type |
PH
|
27 |
253 |
3.23e-8 |
SMART |
C2
|
263 |
362 |
7.4e-10 |
SMART |
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177932
AA Change: N487D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137587 Gene: ENSMUSG00000067629 AA Change: N487D
Domain | Start | End | E-Value | Type |
PH
|
27 |
253 |
3.23e-8 |
SMART |
C2
|
263 |
362 |
7.4e-10 |
SMART |
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000193200
AA Change: N471D
|
SMART Domains |
Protein: ENSMUSP00000141245 Gene: ENSMUSG00000067629 AA Change: N471D
Domain | Start | End | E-Value | Type |
PH
|
12 |
238 |
1.5e-10 |
SMART |
C2
|
248 |
347 |
4.8e-12 |
SMART |
RasGAP
|
377 |
714 |
2.1e-120 |
SMART |
low complexity region
|
772 |
788 |
N/A |
INTRINSIC |
low complexity region
|
923 |
958 |
N/A |
INTRINSIC |
low complexity region
|
1025 |
1053 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1110 |
N/A |
INTRINSIC |
coiled coil region
|
1171 |
1244 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194598
AA Change: N487D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141686 Gene: ENSMUSG00000067629 AA Change: N487D
Domain | Start | End | E-Value | Type |
PH
|
27 |
253 |
3.23e-8 |
SMART |
C2
|
263 |
362 |
7.4e-10 |
SMART |
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1326 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200799
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201186
|
Predicted Effect |
unknown
Transcript: ENSMUST00000201349
AA Change: N486D
|
SMART Domains |
Protein: ENSMUSP00000144666 Gene: ENSMUSG00000067629 AA Change: N486D
Domain | Start | End | E-Value | Type |
RasGAP
|
9 |
346 |
2.2e-120 |
SMART |
low complexity region
|
404 |
420 |
N/A |
INTRINSIC |
low complexity region
|
555 |
590 |
N/A |
INTRINSIC |
low complexity region
|
657 |
685 |
N/A |
INTRINSIC |
low complexity region
|
727 |
742 |
N/A |
INTRINSIC |
Blast:RasGAP
|
761 |
876 |
3e-21 |
BLAST |
low complexity region
|
884 |
894 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000201702
AA Change: N487D
|
SMART Domains |
Protein: ENSMUSP00000144248 Gene: ENSMUSG00000067629 AA Change: N487D
Domain | Start | End | E-Value | Type |
PH
|
27 |
253 |
1.5e-10 |
SMART |
C2
|
263 |
362 |
4.9e-12 |
SMART |
RasGAP
|
392 |
729 |
2.2e-120 |
SMART |
low complexity region
|
773 |
789 |
N/A |
INTRINSIC |
low complexity region
|
924 |
959 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1054 |
N/A |
INTRINSIC |
low complexity region
|
1096 |
1111 |
N/A |
INTRINSIC |
coiled coil region
|
1171 |
1243 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202939
|
SMART Domains |
Protein: ENSMUSP00000144403 Gene: ENSMUSG00000067629
Domain | Start | End | E-Value | Type |
Pfam:RasGAP
|
1 |
61 |
5.7e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229490
AA Change: N487D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231853
AA Change: N314D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228963
AA Change: N428D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.9467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
Validation Efficiency |
98% (51/52) |
MGI Phenotype |
FUNCTION: This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Homozygous null mutations result in early post-embryonic lethality, while heterozygous mutant mice display a variety of phenotypes that include learning and memory defects, hyperactivity, and audiogenic seizures. [provided by RefSeq, Nov 2016] PHENOTYPE: Homozygous mutant mice exhibit postnatal lethality, and by P3-P4, exhibit small body size and brain, reduced movement and do not feed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
G |
T |
13: 81,588,156 (GRCm39) |
|
probably benign |
Het |
Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
Brinp1 |
C |
T |
4: 68,680,790 (GRCm39) |
G580E |
probably damaging |
Het |
Cep128 |
G |
A |
12: 91,226,929 (GRCm39) |
T227M |
probably damaging |
Het |
Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
Dync2h1 |
C |
T |
9: 7,101,193 (GRCm39) |
|
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,852 (GRCm39) |
Q209R |
possibly damaging |
Het |
Gabrg3 |
C |
T |
7: 56,384,839 (GRCm39) |
V241I |
probably benign |
Het |
Gfpt2 |
T |
C |
11: 49,714,136 (GRCm39) |
S298P |
probably benign |
Het |
Gm6797 |
T |
A |
X: 8,508,004 (GRCm39) |
|
noncoding transcript |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,120,698 (GRCm39) |
L742P |
probably damaging |
Het |
Hgd |
A |
G |
16: 37,435,756 (GRCm39) |
I115V |
possibly damaging |
Het |
Hmgcll1 |
A |
T |
9: 76,037,613 (GRCm39) |
D169V |
probably damaging |
Het |
Ifi202b |
A |
T |
1: 173,799,788 (GRCm39) |
I231K |
probably benign |
Het |
Itpripl1 |
A |
G |
2: 126,983,819 (GRCm39) |
I101T |
probably benign |
Het |
Kcnj9 |
A |
G |
1: 172,150,530 (GRCm39) |
V361A |
probably benign |
Het |
Map4k5 |
G |
A |
12: 69,863,152 (GRCm39) |
T567M |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,952,717 (GRCm39) |
D82G |
probably benign |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Or8d2b |
A |
G |
9: 38,789,051 (GRCm39) |
E193G |
probably damaging |
Het |
Or8g50 |
A |
G |
9: 39,648,642 (GRCm39) |
Y177C |
probably damaging |
Het |
Pfn2 |
C |
T |
3: 57,752,766 (GRCm39) |
V3I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
Plekha2 |
A |
C |
8: 25,549,218 (GRCm39) |
S189A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,100,469 (GRCm39) |
V1991A |
probably benign |
Het |
Psg17 |
T |
C |
7: 18,548,380 (GRCm39) |
T464A |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab8b |
A |
G |
9: 66,760,249 (GRCm39) |
M125T |
possibly damaging |
Het |
Rbl1 |
T |
A |
2: 156,989,575 (GRCm39) |
M1015L |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,794,725 (GRCm39) |
Q149L |
probably benign |
Het |
Scn2a |
C |
A |
2: 65,517,123 (GRCm39) |
|
probably benign |
Het |
Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
G |
A |
11: 60,670,358 (GRCm39) |
R502H |
probably damaging |
Het |
Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
Stk25 |
T |
C |
1: 93,551,111 (GRCm39) |
|
probably benign |
Het |
Tek |
T |
C |
4: 94,692,524 (GRCm39) |
C160R |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tll2 |
T |
G |
19: 41,081,286 (GRCm39) |
D712A |
probably damaging |
Het |
Tmprss13 |
A |
T |
9: 45,239,945 (GRCm39) |
R84S |
unknown |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,756,510 (GRCm39) |
K706* |
probably null |
Het |
Upk2 |
A |
T |
9: 44,365,470 (GRCm39) |
S33T |
probably benign |
Het |
Usp47 |
T |
G |
7: 111,709,205 (GRCm39) |
M1317R |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,381,208 (GRCm39) |
Y411H |
probably damaging |
Het |
Zfp143 |
C |
T |
7: 109,674,928 (GRCm39) |
|
probably benign |
Het |
Zfp473 |
T |
C |
7: 44,384,018 (GRCm39) |
D105G |
probably benign |
Het |
Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
Het |
|
Other mutations in Syngap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0732:Syngap1
|
UTSW |
17 |
27,173,962 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1680:Syngap1
|
UTSW |
17 |
27,171,553 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1953:Syngap1
|
UTSW |
17 |
27,163,661 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2213:Syngap1
|
UTSW |
17 |
27,172,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R2696:Syngap1
|
UTSW |
17 |
27,176,385 (GRCm39) |
nonsense |
probably null |
|
R2899:Syngap1
|
UTSW |
17 |
27,178,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Syngap1
|
UTSW |
17 |
27,176,067 (GRCm39) |
nonsense |
probably null |
|
R3705:Syngap1
|
UTSW |
17 |
27,178,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R3880:Syngap1
|
UTSW |
17 |
27,172,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R4019:Syngap1
|
UTSW |
17 |
27,171,315 (GRCm39) |
unclassified |
probably benign |
|
R4661:Syngap1
|
UTSW |
17 |
27,185,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Syngap1
|
UTSW |
17 |
27,180,423 (GRCm39) |
missense |
probably benign |
0.00 |
R5524:Syngap1
|
UTSW |
17 |
27,176,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Syngap1
|
UTSW |
17 |
27,181,305 (GRCm39) |
missense |
probably damaging |
0.97 |
R5610:Syngap1
|
UTSW |
17 |
27,178,754 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5835:Syngap1
|
UTSW |
17 |
27,177,192 (GRCm39) |
missense |
probably benign |
0.09 |
R5974:Syngap1
|
UTSW |
17 |
27,182,012 (GRCm39) |
missense |
probably damaging |
0.98 |
R6235:Syngap1
|
UTSW |
17 |
27,177,104 (GRCm39) |
missense |
probably benign |
0.00 |
R6247:Syngap1
|
UTSW |
17 |
27,181,931 (GRCm39) |
nonsense |
probably null |
|
R6461:Syngap1
|
UTSW |
17 |
27,183,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R6503:Syngap1
|
UTSW |
17 |
27,163,658 (GRCm39) |
missense |
probably benign |
0.40 |
R7134:Syngap1
|
UTSW |
17 |
27,178,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Syngap1
|
UTSW |
17 |
27,176,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R7298:Syngap1
|
UTSW |
17 |
27,181,961 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7749:Syngap1
|
UTSW |
17 |
27,178,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R7812:Syngap1
|
UTSW |
17 |
27,160,478 (GRCm39) |
missense |
probably benign |
|
R7864:Syngap1
|
UTSW |
17 |
27,189,502 (GRCm39) |
missense |
|
|
R7951:Syngap1
|
UTSW |
17 |
27,185,942 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8024:Syngap1
|
UTSW |
17 |
27,160,426 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R8132:Syngap1
|
UTSW |
17 |
27,177,154 (GRCm39) |
missense |
probably damaging |
0.98 |
R8386:Syngap1
|
UTSW |
17 |
27,179,465 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9127:Syngap1
|
UTSW |
17 |
27,181,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R9185:Syngap1
|
UTSW |
17 |
27,182,057 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9189:Syngap1
|
UTSW |
17 |
27,183,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R9461:Syngap1
|
UTSW |
17 |
27,173,962 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9505:Syngap1
|
UTSW |
17 |
27,180,579 (GRCm39) |
missense |
probably benign |
0.02 |
R9723:Syngap1
|
UTSW |
17 |
27,189,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0017:Syngap1
|
UTSW |
17 |
27,163,625 (GRCm39) |
missense |
probably benign |
0.11 |
Z1088:Syngap1
|
UTSW |
17 |
27,180,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |