Incidental Mutation 'R2696:Syngap1'
| ID |
251121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syngap1
|
| Ensembl Gene |
ENSMUSG00000067629 |
| Gene Name |
synaptic Ras GTPase activating protein 1 homolog (rat) |
| Synonyms |
Syngap |
| MMRRC Submission |
040434-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27160227-27191408 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 27176385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 224
(C224*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000201702]
[ENSMUST00000231853]
[ENSMUST00000202939]
[ENSMUST00000228963]
[ENSMUST00000229490]
|
| AlphaFold |
F6SEU4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081285
AA Change: C338*
|
| SMART Domains |
Protein: ENSMUSP00000080038
Gene: ENSMUSG00000067629
AA Change: C338*
| 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 null
Transcript: ENSMUST00000177932
AA Change: C397*
|
| SMART Domains |
Protein: ENSMUSP00000137587
Gene: ENSMUSG00000067629
AA Change: C397*
| 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 null
Transcript: ENSMUST00000193200
AA Change: C381*
|
| SMART Domains |
Protein: ENSMUSP00000141245
Gene: ENSMUSG00000067629
AA Change: C381*
| 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 null
Transcript: ENSMUST00000194598
AA Change: C397*
|
| SMART Domains |
Protein: ENSMUSP00000141686
Gene: ENSMUSG00000067629
AA Change: C397*
| 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 |
probably null
Transcript: ENSMUST00000201349
AA Change: C396*
|
| SMART Domains |
Protein: ENSMUSP00000144666
Gene: ENSMUSG00000067629
AA Change: C396*
| 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 null
Transcript: ENSMUST00000201702
AA Change: C397*
|
| SMART Domains |
Protein: ENSMUSP00000144248
Gene: ENSMUSG00000067629
AA Change: C397*
| 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 null
Transcript: ENSMUST00000231853
AA Change: C224*
|
| 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 null
Transcript: ENSMUST00000228963
AA Change: C338*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229490
AA Change: C397*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,668,228 (GRCm39) |
T540S |
probably benign |
Het |
| Acp7 |
G |
T |
7: 28,314,001 (GRCm39) |
H369Q |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,747,702 (GRCm39) |
N65S |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,259 (GRCm39) |
V620A |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,366 (GRCm39) |
S966R |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,370,017 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Col4a1 |
T |
A |
8: 11,285,092 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,871 (GRCm39) |
H291R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,088,416 (GRCm39) |
Y4C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,278,722 (GRCm39) |
N1106D |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,352,914 (GRCm39) |
D662G |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,808 (GRCm39) |
V297E |
possibly damaging |
Het |
| Faf1 |
T |
A |
4: 109,698,525 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gdf3 |
A |
C |
6: 122,583,859 (GRCm39) |
F169L |
probably benign |
Het |
| Ifi213 |
G |
A |
1: 173,417,590 (GRCm39) |
T274I |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,914,231 (GRCm39) |
D1746G |
possibly damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,826 (GRCm39) |
K32R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,698,239 (GRCm39) |
Q594L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,384,890 (GRCm39) |
I402N |
probably benign |
Het |
| Med18 |
G |
A |
4: 132,187,281 (GRCm39) |
R118W |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,372 (GRCm39) |
E414G |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,168,176 (GRCm39) |
T447A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,279,935 (GRCm39) |
E27G |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,283,439 (GRCm38) |
L406S |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,145,998 (GRCm39) |
I36T |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,735 (GRCm39) |
I19T |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,585 (GRCm39) |
Y156C |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,145,708 (GRCm39) |
T172S |
probably benign |
Het |
| Pknox2 |
G |
A |
9: 36,820,987 (GRCm39) |
R292* |
probably null |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,532,600 (GRCm39) |
L212P |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,653 (GRCm39) |
I215M |
possibly damaging |
Het |
| Psmg2 |
T |
C |
18: 67,781,288 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptp4a1 |
A |
T |
1: 30,985,213 (GRCm39) |
M4K |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,552,427 (GRCm39) |
I475L |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCGGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,659,522 (GRCm39) |
I70N |
probably benign |
Het |
| Slc2a5 |
A |
C |
4: 150,205,203 (GRCm39) |
K4T |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,119 (GRCm39) |
Y939C |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,579,345 (GRCm39) |
*229W |
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,058,662 (GRCm39) |
G206C |
probably damaging |
Het |
| Spata9 |
A |
G |
13: 76,125,895 (GRCm39) |
Q126R |
probably benign |
Het |
| Speg |
A |
T |
1: 75,383,570 (GRCm39) |
D1186V |
probably benign |
Het |
| Spink5 |
T |
G |
18: 44,115,359 (GRCm39) |
M197R |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,697,363 (GRCm39) |
D1975G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,698,807 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,721,116 (GRCm39) |
E397K |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,344 (GRCm39) |
M313K |
probably damaging |
Het |
| Ulk3 |
A |
G |
9: 57,497,724 (GRCm39) |
I74V |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,573 (GRCm39) |
V194A |
probably damaging |
Het |
| Zfp27 |
C |
T |
7: 29,595,792 (GRCm39) |
A58T |
possibly damaging |
Het |
| Zfp398 |
T |
G |
6: 47,843,879 (GRCm39) |
*512E |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTGCATCTGTACCGTGACTCAG -3'
(R):5'- TGTGCTCTGCAGGATGTGAAC -3'
Sequencing Primer
(F):5'- TCTGTACCGTGACTCAGACAAAAAG -3'
(R):5'- CTCTGCAGGATGTGAACCAGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation