Incidental Mutation 'IGL02835:Cyfip2'
| ID |
391988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip2
|
| Ensembl Gene |
ENSMUSG00000020340 |
| Gene Name |
cytoplasmic FMR1 interacting protein 2 |
| Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46140598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 742
(S742T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
| AlphaFold |
Q5SQX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093165
AA Change: S742T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: S742T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:DUF1394
|
59 |
303 |
5.4e-12 |
PFAM |
|
Pfam:FragX_IP
|
388 |
1221 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093166
AA Change: S742T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: S742T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142017
AA Change: S436T
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: S436T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FragX_IP
|
58 |
230 |
4e-66 |
PFAM |
|
Pfam:FragX_IP
|
246 |
916 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165599
AA Change: S742T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: S742T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1283 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for knock-out allele exhibit complete neonatal lethality. Mice homozygous for a dominant spontaneous mutation exhibit impaired behavioral response to cocaine, fewer dendritic spines and reduced miniature excitatory postsynaptic current frequency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
A |
8: 79,937,284 (GRCm39) |
K208* |
probably null |
Het |
| A530016L24Rik |
A |
C |
12: 112,461,420 (GRCm39) |
|
probably null |
Het |
| A830018L16Rik |
A |
C |
1: 12,042,279 (GRCm39) |
D433A |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,401,515 (GRCm39) |
I3985N |
probably damaging |
Het |
| Abhd17c |
C |
T |
7: 83,800,731 (GRCm39) |
D108N |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,326,173 (GRCm39) |
D94N |
probably damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,903 (GRCm39) |
D50G |
probably benign |
Het |
| Angptl1 |
A |
G |
1: 156,686,090 (GRCm39) |
D392G |
probably benign |
Het |
| Apob |
A |
G |
12: 8,065,097 (GRCm39) |
N3989S |
possibly damaging |
Het |
| AU018091 |
T |
C |
7: 3,218,897 (GRCm39) |
D12G |
unknown |
Het |
| Dlc1 |
C |
T |
8: 37,051,055 (GRCm39) |
S892N |
probably damaging |
Het |
| Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
| Egfem1 |
T |
C |
3: 29,711,390 (GRCm39) |
L323P |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fjx1 |
G |
A |
2: 102,281,092 (GRCm39) |
A281V |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,409,625 (GRCm39) |
D619E |
unknown |
Het |
| Gm4795 |
A |
C |
10: 44,882,254 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,198 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5250 |
T |
C |
1: 13,132,418 (GRCm39) |
|
noncoding transcript |
Het |
| Gtdc1 |
A |
T |
2: 44,646,324 (GRCm39) |
Y101* |
probably null |
Het |
| Herc6 |
T |
C |
6: 57,623,146 (GRCm39) |
I583T |
possibly damaging |
Het |
| Hyal4 |
G |
A |
6: 24,765,714 (GRCm39) |
R356H |
probably benign |
Het |
| Il22ra2 |
C |
A |
10: 19,502,424 (GRCm39) |
T81K |
probably benign |
Het |
| Iqcm |
T |
A |
8: 76,281,511 (GRCm39) |
|
probably benign |
Het |
| Izumo4 |
G |
A |
10: 80,540,959 (GRCm39) |
V220I |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,554,133 (GRCm39) |
D899E |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,335,648 (GRCm39) |
N1358K |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,698,863 (GRCm39) |
|
probably null |
Het |
| Lyst |
C |
T |
13: 13,835,685 (GRCm39) |
T1789M |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,049,760 (GRCm39) |
T732A |
probably damaging |
Het |
| Mdh1b |
A |
T |
1: 63,757,816 (GRCm39) |
I305N |
probably damaging |
Het |
| Mettl13 |
A |
G |
1: 162,373,585 (GRCm39) |
I222T |
probably damaging |
Het |
| Mtcl2 |
G |
A |
2: 156,883,854 (GRCm39) |
T363I |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,584,319 (GRCm39) |
F2583L |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,625,290 (GRCm39) |
R2267Q |
possibly damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,589,144 (GRCm39) |
Y178H |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,103,512 (GRCm39) |
F243I |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,523,869 (GRCm39) |
I537K |
possibly damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,614 (GRCm39) |
Y867H |
probably damaging |
Het |
| Pakap |
C |
G |
4: 57,883,044 (GRCm39) |
P837A |
probably damaging |
Het |
| Pik3r4 |
A |
C |
9: 105,549,905 (GRCm39) |
I999L |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,952,292 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polg2 |
A |
T |
11: 106,666,266 (GRCm39) |
V293E |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,817 (GRCm39) |
Y402F |
probably damaging |
Het |
| Prok1 |
T |
C |
3: 107,144,531 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
T |
C |
5: 145,091,500 (GRCm39) |
D533G |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,707,891 (GRCm39) |
V1484A |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,000,293 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
T |
G |
1: 107,530,586 (GRCm39) |
F121L |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,679,081 (GRCm39) |
V41E |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,182,126 (GRCm39) |
N725S |
possibly damaging |
Het |
| Stab1 |
A |
T |
14: 30,867,981 (GRCm39) |
|
probably null |
Het |
| Themis |
A |
T |
10: 28,637,616 (GRCm39) |
|
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,327,780 (GRCm39) |
Y391F |
probably benign |
Het |
| Trmt1 |
T |
G |
8: 85,423,589 (GRCm39) |
V327G |
probably null |
Het |
| Vill |
C |
T |
9: 118,896,513 (GRCm39) |
T120M |
probably benign |
Het |
|
| Other mutations in Cyfip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Cyfip2
|
APN |
11 |
46,091,512 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01352:Cyfip2
|
APN |
11 |
46,156,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01685:Cyfip2
|
APN |
11 |
46,098,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL02367:Cyfip2
|
APN |
11 |
46,167,732 (GRCm39) |
nonsense |
probably null |
|
|
IGL02390:Cyfip2
|
APN |
11 |
46,112,225 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02471:Cyfip2
|
APN |
11 |
46,091,630 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02583:Cyfip2
|
APN |
11 |
46,140,585 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03199:Cyfip2
|
APN |
11 |
46,167,670 (GRCm39) |
missense |
probably benign |
0.07 |
|
aggregate
|
UTSW |
11 |
46,114,963 (GRCm39) |
missense |
probably benign |
|
|
assunder
|
UTSW |
11 |
46,087,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
fragmentary
|
UTSW |
11 |
46,089,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0081:Cyfip2
|
UTSW |
11 |
46,144,825 (GRCm39) |
nonsense |
probably null |
|
|
R0288:Cyfip2
|
UTSW |
11 |
46,144,799 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1830:Cyfip2
|
UTSW |
11 |
46,089,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Cyfip2
|
UTSW |
11 |
46,114,995 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1989:Cyfip2
|
UTSW |
11 |
46,144,825 (GRCm39) |
nonsense |
probably null |
|
|
R2045:Cyfip2
|
UTSW |
11 |
46,140,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2101:Cyfip2
|
UTSW |
11 |
46,133,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Cyfip2
|
UTSW |
11 |
46,176,958 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2162:Cyfip2
|
UTSW |
11 |
46,152,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2299:Cyfip2
|
UTSW |
11 |
46,176,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3831:Cyfip2
|
UTSW |
11 |
46,152,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3832:Cyfip2
|
UTSW |
11 |
46,152,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3833:Cyfip2
|
UTSW |
11 |
46,152,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3881:Cyfip2
|
UTSW |
11 |
46,099,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Cyfip2
|
UTSW |
11 |
46,161,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4385:Cyfip2
|
UTSW |
11 |
46,133,230 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4617:Cyfip2
|
UTSW |
11 |
46,144,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Cyfip2
|
UTSW |
11 |
46,170,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5232:Cyfip2
|
UTSW |
11 |
46,133,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5365:Cyfip2
|
UTSW |
11 |
46,138,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5383:Cyfip2
|
UTSW |
11 |
46,168,918 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5447:Cyfip2
|
UTSW |
11 |
46,182,413 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5450:Cyfip2
|
UTSW |
11 |
46,175,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5796:Cyfip2
|
UTSW |
11 |
46,089,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5820:Cyfip2
|
UTSW |
11 |
46,091,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Cyfip2
|
UTSW |
11 |
46,098,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Cyfip2
|
UTSW |
11 |
46,144,792 (GRCm39) |
nonsense |
probably null |
|
|
R6321:Cyfip2
|
UTSW |
11 |
46,182,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6502:Cyfip2
|
UTSW |
11 |
46,112,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Cyfip2
|
UTSW |
11 |
46,087,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6521:Cyfip2
|
UTSW |
11 |
46,145,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6660:Cyfip2
|
UTSW |
11 |
46,140,634 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6836:Cyfip2
|
UTSW |
11 |
46,163,467 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6866:Cyfip2
|
UTSW |
11 |
46,133,286 (GRCm39) |
nonsense |
probably null |
|
|
R7062:Cyfip2
|
UTSW |
11 |
46,151,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Cyfip2
|
UTSW |
11 |
46,145,493 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7231:Cyfip2
|
UTSW |
11 |
46,114,963 (GRCm39) |
missense |
probably benign |
|
|
R7258:Cyfip2
|
UTSW |
11 |
46,115,004 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7365:Cyfip2
|
UTSW |
11 |
46,098,267 (GRCm39) |
nonsense |
probably null |
|
|
R7441:Cyfip2
|
UTSW |
11 |
46,087,254 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7561:Cyfip2
|
UTSW |
11 |
46,161,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:Cyfip2
|
UTSW |
11 |
46,087,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Cyfip2
|
UTSW |
11 |
46,133,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Cyfip2
|
UTSW |
11 |
46,144,800 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9180:Cyfip2
|
UTSW |
11 |
46,176,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:Cyfip2
|
UTSW |
11 |
46,161,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Cyfip2
|
UTSW |
11 |
46,167,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9439:Cyfip2
|
UTSW |
11 |
46,091,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9563:Cyfip2
|
UTSW |
11 |
46,151,707 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9722:Cyfip2
|
UTSW |
11 |
46,087,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cyfip2
|
UTSW |
11 |
46,113,442 (GRCm39) |
missense |
not run |
|
|
Z1177:Cyfip2
|
UTSW |
11 |
46,113,442 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCCTTCTCAGGCTAGC -3'
(R):5'- AGCGACCTCAATTCTGGTTG -3'
Sequencing Primer
(F):5'- TTCTCAGGCTAGCTGCAGAG -3'
(R):5'- GAGATATTTAAGGTCATGTGTCCCAG -3'
|
| Posted On |
2016-06-08 |
Incidental Mutation