Incidental Mutation 'IGL02367:Cyfip2'
ID |
290773 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02367
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 46167732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 223
(C223*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
AlphaFold |
Q5SQX6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093165
AA Change: C223*
|
SMART Domains |
Protein: ENSMUSP00000090853 Gene: ENSMUSG00000020340 AA Change: C223*
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 null
Transcript: ENSMUST00000093166
AA Change: C223*
|
SMART Domains |
Protein: ENSMUSP00000090854 Gene: ENSMUSG00000020340 AA Change: C223*
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000165599
AA Change: C223*
|
SMART Domains |
Protein: ENSMUSP00000127586 Gene: ENSMUSG00000020340 AA Change: C223*
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,748 (GRCm39) |
L1215P |
probably benign |
Het |
Angptl7 |
T |
C |
4: 148,584,601 (GRCm39) |
N49S |
possibly damaging |
Het |
Asns |
A |
G |
6: 7,685,411 (GRCm39) |
|
probably benign |
Het |
Atr |
T |
A |
9: 95,781,194 (GRCm39) |
Y1419* |
probably null |
Het |
Bptf |
A |
T |
11: 106,964,178 (GRCm39) |
I1672N |
probably benign |
Het |
Cgas |
G |
A |
9: 78,341,667 (GRCm39) |
T370I |
probably benign |
Het |
Chd1 |
A |
G |
17: 17,610,315 (GRCm39) |
T490A |
probably damaging |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,430,316 (GRCm39) |
V308A |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,158,926 (GRCm39) |
V703A |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,440,802 (GRCm39) |
F210L |
probably damaging |
Het |
Gm6526 |
T |
G |
14: 43,988,262 (GRCm39) |
V171G |
probably damaging |
Het |
Grin3a |
A |
G |
4: 49,702,805 (GRCm39) |
Y894H |
probably damaging |
Het |
Grm3 |
C |
A |
5: 9,561,660 (GRCm39) |
C730F |
probably damaging |
Het |
Habp4 |
C |
A |
13: 64,321,905 (GRCm39) |
P181T |
probably damaging |
Het |
Hdac4 |
A |
G |
1: 91,886,171 (GRCm39) |
|
probably benign |
Het |
Ints5 |
A |
G |
19: 8,872,959 (GRCm39) |
D306G |
probably benign |
Het |
Mid2 |
T |
A |
X: 139,637,245 (GRCm39) |
I273N |
probably damaging |
Het |
Ndufs2 |
A |
T |
1: 171,066,934 (GRCm39) |
Y114* |
probably null |
Het |
Neu4 |
G |
T |
1: 93,952,213 (GRCm39) |
R194L |
probably damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,829 (GRCm39) |
|
probably null |
Het |
Nub1 |
A |
G |
5: 24,894,392 (GRCm39) |
M1V |
probably null |
Het |
Olfml2a |
A |
G |
2: 38,844,680 (GRCm39) |
T379A |
probably benign |
Het |
Or9e1 |
A |
T |
11: 58,732,338 (GRCm39) |
I133F |
probably benign |
Het |
Pex3 |
G |
T |
10: 13,400,643 (GRCm39) |
Q303K |
probably benign |
Het |
Pmp2 |
A |
T |
3: 10,247,560 (GRCm39) |
I43N |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,726,601 (GRCm39) |
D319E |
probably benign |
Het |
Rap1gap2 |
A |
T |
11: 74,288,181 (GRCm39) |
|
probably null |
Het |
Rpl15-ps6 |
T |
C |
15: 52,341,368 (GRCm39) |
|
noncoding transcript |
Het |
Rwdd3 |
A |
G |
3: 120,952,679 (GRCm39) |
V104A |
probably damaging |
Het |
Sbf1 |
A |
T |
15: 89,191,775 (GRCm39) |
V157E |
probably damaging |
Het |
Slc4a11 |
T |
A |
2: 130,526,879 (GRCm39) |
I750F |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,948,356 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
T |
1: 188,516,943 (GRCm39) |
M3218L |
probably benign |
Het |
Utp20 |
G |
A |
10: 88,607,715 (GRCm39) |
|
probably benign |
Het |
Zfp493 |
T |
A |
13: 67,935,089 (GRCm39) |
Y347* |
probably null |
Het |
Zswim6 |
T |
C |
13: 107,880,637 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
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 |
|
|
Posted On |
2015-04-16 |