Incidental Mutation 'R7864:Syngap1'
ID |
607748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syngap1
|
Ensembl Gene |
ENSMUSG00000067629 |
Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
Synonyms |
Syngap |
MMRRC Submission |
045917-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7864 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
27160227-27191408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27189502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 1286
(Q1286L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144248
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000120016]
[ENSMUST00000133257]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000201702]
[ENSMUST00000228963]
[ENSMUST00000229490]
[ENSMUST00000231853]
|
AlphaFold |
F6SEU4 |
Predicted Effect |
silent
Transcript: ENSMUST00000081285
|
SMART Domains |
Protein: ENSMUSP00000080038 Gene: ENSMUSG00000067629
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 benign
Transcript: ENSMUST00000120016
|
SMART Domains |
Protein: ENSMUSP00000112778 Gene: ENSMUSG00000079605
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
BTB
|
48 |
142 |
4.08e-21 |
SMART |
low complexity region
|
144 |
164 |
N/A |
INTRINSIC |
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
ZnF_C2H2
|
397 |
419 |
1.36e-2 |
SMART |
ZnF_C2H2
|
424 |
444 |
4.99e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133257
|
SMART Domains |
Protein: ENSMUSP00000115777 Gene: ENSMUSG00000048731
Domain | Start | End | E-Value | Type |
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
internal_repeat_1
|
264 |
280 |
1.14e-6 |
PROSPERO |
Pfam:Ubiquitin_3
|
281 |
368 |
1.5e-47 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000177932
AA Change: Q1305L
|
SMART Domains |
Protein: ENSMUSP00000137587 Gene: ENSMUSG00000067629 AA Change: Q1305L
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 |
probably benign
Transcript: ENSMUST00000193200
|
SMART Domains |
Protein: ENSMUSP00000141245 Gene: ENSMUSG00000067629
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 |
silent
Transcript: ENSMUST00000194598
|
SMART Domains |
Protein: ENSMUSP00000141686 Gene: ENSMUSG00000067629
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 benign
Transcript: ENSMUST00000201186
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000144248 Gene: ENSMUSG00000067629 AA Change: Q1286L
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: ENSMUST00000201349
|
SMART Domains |
Protein: ENSMUSP00000144666 Gene: ENSMUSG00000067629
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 |
probably benign
Transcript: ENSMUST00000202049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202208
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228963
AA Change: Q1243L
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229490
AA Change: Q1302L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
silent
Transcript: ENSMUST00000231853
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (48/48) |
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 |
Acot2 |
C |
T |
12: 84,034,796 (GRCm39) |
R41W |
probably benign |
Het |
Adam32 |
T |
A |
8: 25,412,292 (GRCm39) |
H88L |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,577,976 (GRCm39) |
T238A |
probably damaging |
Het |
Arid1b |
T |
C |
17: 5,392,530 (GRCm39) |
L1967P |
probably damaging |
Het |
Bbx |
G |
T |
16: 50,082,797 (GRCm39) |
H216Q |
probably damaging |
Het |
C030005K15Rik |
G |
A |
10: 97,561,614 (GRCm39) |
T39M |
probably damaging |
Het |
C1s2 |
A |
G |
6: 124,602,246 (GRCm39) |
V655A |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,414,906 (GRCm39) |
Y184C |
probably damaging |
Het |
Ces1f |
G |
A |
8: 94,000,769 (GRCm39) |
A125V |
possibly damaging |
Het |
Chaf1a |
C |
T |
17: 56,354,339 (GRCm39) |
T203I |
unknown |
Het |
Cntn5 |
A |
G |
9: 9,984,182 (GRCm39) |
S144P |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,631,394 (GRCm39) |
Y436F |
probably damaging |
Het |
Dbf4 |
A |
T |
5: 8,460,010 (GRCm39) |
H150Q |
possibly damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,140,864 (GRCm39) |
D1360V |
possibly damaging |
Het |
Ecm1 |
A |
T |
3: 95,641,689 (GRCm39) |
I515N |
probably benign |
Het |
Fancc |
A |
T |
13: 63,548,073 (GRCm39) |
C75* |
probably null |
Het |
Foxa1 |
A |
T |
12: 57,589,533 (GRCm39) |
V229D |
probably damaging |
Het |
Gga1 |
T |
C |
15: 78,772,444 (GRCm39) |
M248T |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,980,619 (GRCm39) |
Q573R |
probably benign |
Het |
Hivep1 |
A |
C |
13: 42,312,290 (GRCm39) |
H1510P |
probably benign |
Het |
Htr1f |
A |
C |
16: 64,747,157 (GRCm39) |
I45S |
probably damaging |
Het |
Itsn1 |
T |
C |
16: 91,598,454 (GRCm39) |
V129A |
possibly damaging |
Het |
Klrg2 |
G |
T |
6: 38,605,024 (GRCm39) |
Q347K |
possibly damaging |
Het |
Lama2 |
G |
A |
10: 26,932,611 (GRCm39) |
T1996I |
probably benign |
Het |
Man1a |
C |
A |
10: 53,906,843 (GRCm39) |
L219F |
possibly damaging |
Het |
Mcub |
A |
G |
3: 129,712,272 (GRCm39) |
I201T |
probably damaging |
Het |
Or10q1 |
A |
G |
19: 13,726,710 (GRCm39) |
D80G |
probably benign |
Het |
Otogl |
A |
G |
10: 107,705,428 (GRCm39) |
L633P |
probably damaging |
Het |
Pate9 |
A |
T |
9: 36,445,747 (GRCm39) |
F68Y |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,497,762 (GRCm39) |
L429* |
probably null |
Het |
Pkhd1l1 |
T |
C |
15: 44,389,449 (GRCm39) |
|
probably null |
Het |
Pld4 |
C |
A |
12: 112,731,557 (GRCm39) |
Q237K |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,357 (GRCm39) |
E897G |
probably damaging |
Het |
Pomt2 |
A |
G |
12: 87,169,656 (GRCm39) |
F475L |
probably benign |
Het |
Popdc3 |
G |
A |
10: 45,191,278 (GRCm39) |
A130T |
probably benign |
Het |
Prss54 |
T |
C |
8: 96,286,297 (GRCm39) |
K259E |
probably benign |
Het |
Psg23 |
T |
G |
7: 18,344,435 (GRCm39) |
N340T |
possibly damaging |
Het |
Rab1a |
G |
T |
11: 20,165,673 (GRCm39) |
G23* |
probably null |
Het |
Rgs9 |
A |
T |
11: 109,166,446 (GRCm39) |
F108Y |
probably damaging |
Het |
Scn9a |
T |
A |
2: 66,314,904 (GRCm39) |
T1605S |
possibly damaging |
Het |
Sh2d4b |
G |
A |
14: 40,562,208 (GRCm39) |
T319I |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,726,217 (GRCm39) |
|
probably null |
Het |
Tmem132d |
G |
A |
5: 127,860,980 (GRCm39) |
T1047I |
probably damaging |
Het |
Togaram2 |
G |
A |
17: 72,007,935 (GRCm39) |
R420H |
probably damaging |
Het |
Uimc1 |
G |
A |
13: 55,241,080 (GRCm39) |
R3* |
probably null |
Het |
Vmn2r7 |
C |
T |
3: 64,598,947 (GRCm39) |
V537I |
probably benign |
Het |
Wwp1 |
T |
A |
4: 19,635,328 (GRCm39) |
K584N |
probably damaging |
Het |
Zc3h12d |
A |
T |
10: 7,715,723 (GRCm39) |
Q42L |
possibly damaging |
Het |
Zfp729a |
A |
T |
13: 67,769,569 (GRCm39) |
V220E |
probably benign |
Het |
Zfp91 |
A |
G |
19: 12,748,403 (GRCm39) |
V391A |
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 |
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 |
|
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'- AGGTTTCCTGGAGGTGAGAAAC -3'
(R):5'- TGCCCCAAGGAGGCATTAAG -3'
Sequencing Primer
(F):5'- TTTCCTGGAGGTGAGAAACAAACAG -3'
(R):5'- GGAGACAATCCCGCTGTC -3'
|
Posted On |
2019-12-20 |