Incidental Mutation 'R8024:Syngap1'
ID |
617614 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syngap1
|
Ensembl Gene |
ENSMUSG00000067629 |
Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
Synonyms |
Syngap |
MMRRC Submission |
067463-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8024 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
27160227-27191408 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 27160426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025027]
[ENSMUST00000073724]
[ENSMUST00000114935]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000201702]
[ENSMUST00000229490]
|
AlphaFold |
F6SEU4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025027
|
SMART Domains |
Protein: ENSMUSP00000025027 Gene: ENSMUSG00000024194
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
Pfam:CutA1
|
67 |
165 |
6.9e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073724
|
SMART Domains |
Protein: ENSMUSP00000073402 Gene: ENSMUSG00000024193
Domain | Start | End | E-Value | Type |
TUDOR
|
29 |
86 |
5.61e-11 |
SMART |
PHD
|
89 |
140 |
2.81e-8 |
SMART |
PHD
|
188 |
238 |
2.42e0 |
SMART |
low complexity region
|
410 |
416 |
N/A |
INTRINSIC |
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
Pfam:Mtf2_C
|
523 |
557 |
7.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114935
|
SMART Domains |
Protein: ENSMUSP00000110585 Gene: ENSMUSG00000024194
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:CutA1
|
43 |
144 |
1.7e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177932
AA Change: M1L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000137587 Gene: ENSMUSG00000067629 AA Change: M1L
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 |
probably benign
Transcript: ENSMUST00000194598
AA Change: M1L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000141686 Gene: ENSMUSG00000067629 AA Change: M1L
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: 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 |
|
SMART Domains |
Protein: ENSMUSP00000144248 Gene: ENSMUSG00000067629 AA Change: M1L
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: ENSMUST00000229490
AA Change: M1L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (74/74) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,760,713 (GRCm39) |
N1257Y |
probably benign |
Het |
2310057J18Rik |
A |
T |
10: 28,858,591 (GRCm39) |
Y133* |
probably null |
Het |
2310057J18Rik |
A |
C |
10: 28,862,213 (GRCm39) |
S26A |
possibly damaging |
Het |
9930012K11Rik |
G |
T |
14: 70,394,116 (GRCm39) |
P220T |
probably damaging |
Het |
Adam1b |
A |
C |
5: 121,638,986 (GRCm39) |
S686R |
probably benign |
Het |
Adam8 |
T |
C |
7: 139,567,489 (GRCm39) |
D418G |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,792,095 (GRCm39) |
L287P |
probably damaging |
Het |
Adhfe1 |
T |
A |
1: 9,634,080 (GRCm39) |
M373K |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,438,106 (GRCm39) |
S1096G |
probably benign |
Het |
Ankmy1 |
A |
G |
1: 92,812,716 (GRCm39) |
V531A |
probably benign |
Het |
Ano3 |
C |
T |
2: 110,498,128 (GRCm39) |
E738K |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,807,194 (GRCm39) |
I796F |
probably damaging |
Het |
Apeh |
T |
C |
9: 107,969,790 (GRCm39) |
E190G |
probably benign |
Het |
Atpsckmt |
T |
C |
15: 31,608,317 (GRCm39) |
Y123H |
probably damaging |
Het |
Cadm3 |
A |
G |
1: 173,165,622 (GRCm39) |
L346P |
probably damaging |
Het |
Ccdc9b |
A |
G |
2: 118,591,005 (GRCm39) |
|
probably null |
Het |
Clec2e |
G |
A |
6: 129,071,388 (GRCm39) |
H150Y |
possibly damaging |
Het |
Cnga4 |
A |
T |
7: 105,056,042 (GRCm39) |
N318Y |
probably damaging |
Het |
Cnr2 |
T |
A |
4: 135,644,196 (GRCm39) |
F91L |
probably damaging |
Het |
Diaph3 |
T |
A |
14: 86,893,835 (GRCm39) |
E1147V |
probably damaging |
Het |
Elmo2 |
T |
C |
2: 165,133,775 (GRCm39) |
T738A |
unknown |
Het |
Exoc4 |
T |
A |
6: 33,324,866 (GRCm39) |
W387R |
probably damaging |
Het |
Focad |
T |
C |
4: 88,315,237 (GRCm39) |
V1379A |
unknown |
Het |
Frmd4a |
T |
C |
2: 4,608,513 (GRCm39) |
S794P |
probably damaging |
Het |
Ftl1-ps1 |
A |
G |
13: 74,555,170 (GRCm39) |
T150A |
probably benign |
Het |
Gm43517 |
A |
T |
12: 49,436,409 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
C |
T |
3: 93,680,475 (GRCm39) |
A49V |
probably benign |
Het |
Helz |
T |
A |
11: 107,577,247 (GRCm39) |
L1867Q |
unknown |
Het |
Il22ra1 |
A |
G |
4: 135,461,589 (GRCm39) |
H118R |
probably benign |
Het |
Inf2 |
C |
T |
12: 112,575,336 (GRCm39) |
P856S |
unknown |
Het |
Ints5 |
T |
A |
19: 8,873,504 (GRCm39) |
L488I |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,755,634 (GRCm39) |
M296T |
possibly damaging |
Het |
Kifc1 |
G |
A |
17: 34,102,177 (GRCm39) |
R479C |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,202,708 (GRCm39) |
C289* |
probably null |
Het |
Mael |
A |
G |
1: 166,054,196 (GRCm39) |
L196S |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,755,581 (GRCm39) |
S229R |
possibly damaging |
Het |
Mroh9 |
T |
C |
1: 162,866,802 (GRCm39) |
N645D |
probably benign |
Het |
Myom3 |
G |
A |
4: 135,529,059 (GRCm39) |
V1132I |
probably benign |
Het |
Naalad2 |
T |
G |
9: 18,308,769 (GRCm39) |
|
probably benign |
Het |
Ndufa13 |
A |
T |
8: 70,347,187 (GRCm39) |
L71H |
probably damaging |
Het |
Nepro |
A |
T |
16: 44,551,778 (GRCm39) |
H212L |
probably benign |
Het |
Nmd3 |
T |
A |
3: 69,637,298 (GRCm39) |
|
probably benign |
Het |
Nox4 |
T |
A |
7: 86,954,118 (GRCm39) |
L141Q |
probably damaging |
Het |
Or4a81 |
T |
C |
2: 89,619,390 (GRCm39) |
E102G |
probably benign |
Het |
Or5p53 |
T |
C |
7: 107,533,645 (GRCm39) |
V306A |
probably benign |
Het |
Or5p58 |
T |
A |
7: 107,694,496 (GRCm39) |
T94S |
probably benign |
Het |
Or6c215 |
T |
G |
10: 129,637,812 (GRCm39) |
E194A |
probably damaging |
Het |
Or8s2 |
T |
A |
15: 98,276,878 (GRCm39) |
M38L |
probably benign |
Het |
Pfpl |
A |
G |
19: 12,407,570 (GRCm39) |
D607G |
possibly damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,802,921 (GRCm39) |
F233L |
possibly damaging |
Het |
Prl6a1 |
A |
G |
13: 27,502,678 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
A |
T |
6: 23,042,750 (GRCm39) |
E2058V |
probably damaging |
Het |
Rag1 |
A |
T |
2: 101,472,852 (GRCm39) |
N763K |
probably damaging |
Het |
Rhbg |
A |
C |
3: 88,155,760 (GRCm39) |
D63E |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,106,472 (GRCm39) |
F330L |
probably benign |
Het |
Scaf8 |
A |
T |
17: 3,209,568 (GRCm39) |
Q97L |
unknown |
Het |
Sdr9c7 |
G |
A |
10: 127,734,751 (GRCm39) |
V80I |
probably benign |
Het |
Slc18a1 |
A |
G |
8: 69,527,799 (GRCm39) |
V4A |
probably benign |
Het |
Slco3a1 |
T |
A |
7: 74,204,218 (GRCm39) |
I41F |
probably benign |
Het |
Slirp |
T |
C |
12: 87,494,370 (GRCm39) |
V45A |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,070,618 (GRCm39) |
Q922L |
probably benign |
Het |
Spg11 |
A |
G |
2: 121,927,802 (GRCm39) |
S661P |
possibly damaging |
Het |
Stab2 |
G |
T |
10: 86,681,916 (GRCm39) |
T2495K |
probably benign |
Het |
Supt16 |
A |
G |
14: 52,408,332 (GRCm39) |
I871T |
probably damaging |
Het |
Sval2 |
A |
G |
6: 41,837,298 (GRCm39) |
Q9R |
probably damaging |
Het |
Tfpi |
A |
T |
2: 84,284,266 (GRCm39) |
M62K |
possibly damaging |
Het |
Tm4sf1 |
A |
T |
3: 57,195,186 (GRCm39) |
Y200* |
probably null |
Het |
Tmc1 |
A |
T |
19: 20,878,181 (GRCm39) |
W105R |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,025,987 (GRCm39) |
E827G |
probably benign |
Het |
Tollip |
T |
C |
7: 141,446,563 (GRCm39) |
I33V |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,645,803 (GRCm39) |
V1493D |
possibly damaging |
Het |
Vmn2r6 |
G |
A |
3: 64,467,245 (GRCm39) |
R85W |
probably benign |
Het |
Vwa5a |
C |
A |
9: 38,647,316 (GRCm39) |
S565* |
probably null |
Het |
Xbp1 |
T |
A |
11: 5,471,910 (GRCm39) |
V12D |
probably benign |
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 |
|
R7864:Syngap1
|
UTSW |
17 |
27,189,502 (GRCm39) |
missense |
|
|
R7951:Syngap1
|
UTSW |
17 |
27,185,942 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- TGTATGAGTCAGGGGTCCCTC -3'
(R):5'- CTTGAAAAGGCCCGTGTCCC -3'
Sequencing Primer
(F):5'- AGTCAGGGGTCCCTCGTTCTC -3'
(R):5'- GTGTCCCAGCCCCTCTATC -3'
|
Posted On |
2020-01-23 |