Incidental Mutation 'R3833:Cyfip2'
| ID |
275493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip2
|
| Ensembl Gene |
ENSMUSG00000020340 |
| Gene Name |
cytoplasmic FMR1 interacting protein 2 |
| Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
| MMRRC Submission |
040888-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3833 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46152333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 485
(D485G)
|
| 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: D485G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: D485G
| 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: D485G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: D485G
| 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: D154G
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: D154G
| 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: D485G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: D485G
| 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 |
0.2706 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
97% (70/72) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
G |
A |
9: 101,820,062 (GRCm39) |
G161S |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,314,519 (GRCm39) |
D282G |
probably benign |
Het |
| Atp10d |
T |
A |
5: 72,396,568 (GRCm39) |
C258S |
possibly damaging |
Het |
| Atp6ap1 |
T |
C |
X: 73,340,813 (GRCm39) |
I10T |
possibly damaging |
Het |
| Atp6v0d2 |
T |
G |
4: 19,922,395 (GRCm39) |
N35H |
probably damaging |
Het |
| Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
| Ccn6 |
T |
C |
10: 39,030,945 (GRCm39) |
K193E |
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,764,324 (GRCm39) |
T69A |
possibly damaging |
Het |
| Cenpe |
T |
G |
3: 134,928,083 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,178,946 (GRCm39) |
G53R |
probably damaging |
Het |
| Cstb |
T |
C |
10: 78,263,184 (GRCm39) |
F70L |
probably benign |
Het |
| Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
| Cyp8b1 |
C |
A |
9: 121,745,109 (GRCm39) |
Q74H |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,651 (GRCm39) |
P403L |
probably damaging |
Het |
| Dennd2a |
G |
T |
6: 39,483,657 (GRCm39) |
S401Y |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,167,320 (GRCm39) |
V447A |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
| Gcn1 |
A |
T |
5: 115,730,191 (GRCm39) |
Q835L |
probably benign |
Het |
| Gtf2b |
T |
A |
3: 142,477,153 (GRCm39) |
D8E |
probably benign |
Het |
| Hao1 |
A |
T |
2: 134,364,925 (GRCm39) |
V234D |
probably damaging |
Het |
| Hephl1 |
T |
C |
9: 14,981,044 (GRCm39) |
E796G |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,081,739 (GRCm39) |
I21V |
probably benign |
Het |
| Htt |
T |
A |
5: 34,979,062 (GRCm39) |
V815D |
probably benign |
Het |
| Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
| Igsf8 |
G |
T |
1: 172,145,837 (GRCm39) |
A315S |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,599 (GRCm39) |
D37G |
possibly damaging |
Het |
| Iqcb1 |
T |
A |
16: 36,652,276 (GRCm39) |
C62* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,785,405 (GRCm39) |
T381S |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,161,260 (GRCm39) |
V462A |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,860,259 (GRCm39) |
R199* |
probably null |
Het |
| Kif24 |
G |
T |
4: 41,395,064 (GRCm39) |
A603D |
probably damaging |
Het |
| Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
| Klrc3 |
A |
G |
6: 129,620,181 (GRCm39) |
L24P |
probably damaging |
Het |
| Lmnb1 |
A |
C |
18: 56,861,598 (GRCm39) |
D163A |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,529,765 (GRCm39) |
L912P |
probably damaging |
Het |
| Mageh1 |
A |
T |
X: 151,820,004 (GRCm39) |
W111R |
probably damaging |
Het |
| Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
| Mapt |
A |
T |
11: 104,177,961 (GRCm39) |
Q38L |
possibly damaging |
Het |
| Med12 |
C |
A |
X: 100,339,498 (GRCm39) |
P2037Q |
possibly damaging |
Het |
| Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
| Mep1b |
C |
T |
18: 21,219,296 (GRCm39) |
T150I |
possibly damaging |
Het |
| Mroh1 |
C |
T |
15: 76,285,819 (GRCm39) |
T71I |
probably benign |
Het |
| Nap1l3 |
A |
G |
X: 121,305,995 (GRCm39) |
V241A |
possibly damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,479 (GRCm39) |
N400Y |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,596,624 (GRCm39) |
M39T |
probably damaging |
Het |
| Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
| Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
| Ppp1r12c |
T |
A |
7: 4,485,785 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
G |
C |
9: 35,477,874 (GRCm39) |
G369R |
probably benign |
Het |
| Rhbdf2 |
T |
A |
11: 116,495,250 (GRCm39) |
D251V |
probably damaging |
Het |
| Rsad1 |
A |
G |
11: 94,434,130 (GRCm39) |
V366A |
probably benign |
Het |
| S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,528,028 (GRCm39) |
S821P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
| Sdsl |
C |
A |
5: 120,601,183 (GRCm39) |
A30S |
probably benign |
Het |
| Slc26a6 |
C |
T |
9: 108,733,117 (GRCm39) |
T32I |
possibly damaging |
Het |
| Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
| Snd1 |
G |
T |
6: 28,531,403 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,718,221 (GRCm39) |
T201A |
probably damaging |
Het |
| Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
| Thsd1 |
T |
G |
8: 22,733,132 (GRCm39) |
S60A |
possibly damaging |
Het |
| Tmem121b |
C |
T |
6: 120,469,841 (GRCm39) |
G292E |
probably damaging |
Het |
| Trim63 |
A |
G |
4: 134,048,507 (GRCm39) |
N172S |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,219,209 (GRCm39) |
|
probably null |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,553 (GRCm39) |
|
probably null |
Het |
| Zfp1010 |
T |
C |
2: 176,956,998 (GRCm39) |
S167G |
possibly damaging |
Het |
| Zfp709 |
G |
A |
8: 72,642,906 (GRCm39) |
V112M |
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 |
|
IGL02835:Cyfip2
|
UTSW |
11 |
46,140,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TATTCATAGCCTACTCGCTACACAC -3'
(R):5'- CAACATGGCAAAGCGTGGTG -3'
Sequencing Primer
(F):5'- CACGATGTGTGCTGAAGTCTACAC -3'
(R):5'- CGTGGTGAGCAGATGGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation