Incidental Mutation 'R5610:Syngap1'
| ID |
440331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syngap1
|
| Ensembl Gene |
ENSMUSG00000067629 |
| Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
| Synonyms |
Syngap |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27160227-27191408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27178754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 443
(D443E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000081285
AA Change: D557E
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080038
Gene: ENSMUSG00000067629
AA Change: D557E
| 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 |
possibly damaging
Transcript: ENSMUST00000177932
AA Change: D616E
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137587
Gene: ENSMUSG00000067629
AA Change: D616E
| 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: D600E
|
| SMART Domains |
Protein: ENSMUSP00000141245
Gene: ENSMUSG00000067629
AA Change: D600E
| 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 |
possibly damaging
Transcript: ENSMUST00000194598
AA Change: D616E
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141686
Gene: ENSMUSG00000067629
AA Change: D616E
| 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: D615E
|
| SMART Domains |
Protein: ENSMUSP00000144666
Gene: ENSMUSG00000067629
AA Change: D615E
| 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: D616E
|
| SMART Domains |
Protein: ENSMUSP00000144248
Gene: ENSMUSG00000067629
AA Change: D616E
| 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: ENSMUST00000202208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202049
|
| 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 |
possibly damaging
Transcript: ENSMUST00000229490
AA Change: D616E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231853
AA Change: D443E
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228963
AA Change: D557E
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,156 (GRCm39) |
D247G |
possibly damaging |
Het |
| 1700123K08Rik |
A |
G |
5: 138,562,403 (GRCm39) |
|
probably null |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Accsl |
C |
A |
2: 93,692,118 (GRCm39) |
|
probably null |
Het |
| Adad2 |
C |
T |
8: 120,341,500 (GRCm39) |
R171C |
probably benign |
Het |
| Adgrv1 |
A |
C |
13: 81,669,236 (GRCm39) |
L2440R |
probably damaging |
Het |
| Antxr1 |
A |
G |
6: 87,232,845 (GRCm39) |
V239A |
probably damaging |
Het |
| Aoc1l2 |
G |
A |
6: 48,907,953 (GRCm39) |
V318I |
probably benign |
Het |
| Arhgap28 |
G |
A |
17: 68,203,235 (GRCm39) |
Q73* |
probably null |
Het |
| Arrdc5 |
C |
T |
17: 56,604,846 (GRCm39) |
R147H |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,930,492 (GRCm39) |
Y1990H |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,148 (GRCm39) |
E494G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,119,418 (GRCm39) |
I701N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,979,217 (GRCm39) |
Y699C |
probably damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,537 (GRCm39) |
T227P |
probably benign |
Het |
| Ccr3 |
C |
A |
9: 123,829,518 (GRCm39) |
D284E |
probably damaging |
Het |
| Cdh13 |
T |
C |
8: 119,578,462 (GRCm39) |
V163A |
possibly damaging |
Het |
| CK137956 |
C |
T |
4: 127,840,440 (GRCm39) |
|
probably null |
Het |
| Cltc |
T |
C |
11: 86,612,472 (GRCm39) |
S529G |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,947,177 (GRCm39) |
P186L |
probably benign |
Het |
| Ddx11 |
A |
G |
17: 66,457,021 (GRCm39) |
K783E |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,538,288 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,486,005 (GRCm39) |
H408R |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,221 (GRCm39) |
K533R |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,406,109 (GRCm39) |
Y953* |
probably null |
Het |
| Fosl1 |
T |
A |
19: 5,505,133 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
A |
G |
6: 97,283,752 (GRCm39) |
M373T |
probably benign |
Het |
| Gm1968 |
A |
G |
16: 29,777,557 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr26 |
T |
C |
7: 131,568,694 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,303,117 (GRCm39) |
N106S |
possibly damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,429 (GRCm39) |
E546A |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,337,540 (GRCm39) |
T2450M |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,953,450 (GRCm39) |
Y1245N |
probably damaging |
Het |
| Klrb1f |
G |
A |
6: 129,031,335 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,390,156 (GRCm39) |
L37P |
probably benign |
Het |
| Lnpk |
T |
C |
2: 74,378,369 (GRCm39) |
T131A |
probably benign |
Het |
| Mob3c |
C |
T |
4: 115,690,878 (GRCm39) |
T156I |
probably benign |
Het |
| Nadk |
T |
A |
4: 155,668,628 (GRCm39) |
W100R |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,061 (GRCm39) |
I161F |
probably benign |
Het |
| Or4c107 |
A |
C |
2: 88,789,170 (GRCm39) |
D120A |
probably damaging |
Het |
| Or6c204 |
G |
A |
10: 129,022,426 (GRCm39) |
T288I |
probably damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,276 (GRCm39) |
E243G |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,315,828 (GRCm39) |
T361A |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,769,059 (GRCm39) |
Q1198K |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,550,124 (GRCm39) |
I102N |
probably damaging |
Het |
| Prss1 |
G |
A |
6: 41,438,147 (GRCm39) |
V25I |
probably benign |
Het |
| Pspc1 |
A |
G |
14: 57,015,388 (GRCm39) |
Y77H |
probably damaging |
Het |
| Rnf5 |
T |
C |
17: 34,820,712 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,811,399 (GRCm39) |
M235I |
probably benign |
Het |
| Sec24c |
A |
G |
14: 20,741,893 (GRCm39) |
Y776C |
probably damaging |
Het |
| Sharpin |
A |
G |
15: 76,234,253 (GRCm39) |
|
probably null |
Het |
| Slc12a4 |
C |
A |
8: 106,676,845 (GRCm39) |
V482L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,514,022 (GRCm39) |
|
probably null |
Het |
| Smtn |
G |
T |
11: 3,479,582 (GRCm39) |
T495N |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,991 (GRCm39) |
T171A |
probably benign |
Het |
| Sprr2e |
T |
C |
3: 92,260,399 (GRCm39) |
*77R |
probably null |
Het |
| Taldo1 |
T |
C |
7: 140,972,205 (GRCm39) |
V24A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,391,778 (GRCm39) |
N8K |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,577 (GRCm39) |
Y563C |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,722,593 (GRCm39) |
D1342V |
probably benign |
Het |
| Usp7 |
C |
T |
16: 8,534,374 (GRCm39) |
|
probably null |
Het |
| Wbp1 |
C |
T |
6: 83,097,216 (GRCm39) |
G75D |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,315 (GRCm39) |
V245F |
probably benign |
Het |
| Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,530 (GRCm39) |
C236S |
probably damaging |
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 |
|
R1178:Syngap1
|
UTSW |
17 |
27,176,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGAAAGCTGAGGGTCTCTGG -3'
(R):5'- ATGAAGCCCAGGAAGTCCTC -3'
Sequencing Primer
(F):5'- TCTCTGGGGCTCAGTCC -3'
(R):5'- CAGATGCTGTGGTGACTT -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation