Incidental Mutation 'IGL00906:Cyfip2'
| ID |
28495 |
| 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 # |
IGL00906
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46091512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1136
(V1136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
| AlphaFold |
Q5SQX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093165
AA Change: V1136A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: V1136A
| 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 |
possibly damaging
Transcript: ENSMUST00000093166
AA Change: V1136A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: V1136A
| 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: V830A
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: V830A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FragX_IP
|
58 |
230 |
4e-66 |
PFAM |
|
Pfam:FragX_IP
|
246 |
916 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165599
AA Change: V1136A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: V1136A
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,580,338 (GRCm39) |
E221G |
probably benign |
Het |
| Alb |
A |
G |
5: 90,619,932 (GRCm39) |
N453S |
probably benign |
Het |
| Bckdha |
C |
T |
7: 25,332,767 (GRCm39) |
V183M |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,674 (GRCm39) |
|
probably benign |
Het |
| Ccdc163 |
T |
C |
4: 116,567,487 (GRCm39) |
|
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,268,225 (GRCm39) |
C87* |
probably null |
Het |
| Cfhr4 |
A |
T |
1: 139,659,312 (GRCm39) |
V739E |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,660,700 (GRCm39) |
V708A |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 117,874,937 (GRCm39) |
L3976R |
probably damaging |
Het |
| Erich1 |
A |
G |
8: 14,083,770 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
A |
T |
12: 4,782,773 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Iars2 |
A |
T |
1: 185,028,600 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,587,197 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
A |
T |
2: 62,476,168 (GRCm39) |
I36N |
probably benign |
Het |
| Jak1 |
C |
T |
4: 101,011,826 (GRCm39) |
G1092D |
probably damaging |
Het |
| Kir3dl2 |
G |
A |
X: 135,357,097 (GRCm39) |
P122S |
probably damaging |
Het |
| Nacc2 |
T |
C |
2: 25,951,678 (GRCm39) |
T386A |
probably damaging |
Het |
| Nrf1 |
C |
T |
6: 30,098,477 (GRCm39) |
T135M |
probably damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,214 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,051 (GRCm39) |
G16D |
probably damaging |
Het |
| Pcca |
A |
C |
14: 122,927,545 (GRCm39) |
D436A |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,174 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Pdgfra |
A |
G |
5: 75,340,834 (GRCm39) |
I598V |
probably benign |
Het |
| Pla2g6 |
C |
T |
15: 79,171,947 (GRCm39) |
V637I |
probably damaging |
Het |
| Plac1 |
A |
C |
X: 52,159,593 (GRCm39) |
V39G |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,416,822 (GRCm39) |
E5G |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,157,023 (GRCm39) |
D967G |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,694,266 (GRCm39) |
T322A |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,947,470 (GRCm39) |
T137A |
probably benign |
Het |
| Sgpp2 |
A |
G |
1: 78,367,184 (GRCm39) |
R106G |
probably benign |
Het |
| Slc27a5 |
T |
A |
7: 12,724,984 (GRCm39) |
M459L |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,140 (GRCm39) |
L52P |
probably damaging |
Het |
| Srarp |
G |
A |
4: 141,160,584 (GRCm39) |
T83M |
probably benign |
Het |
| Sstr2 |
A |
G |
11: 113,515,821 (GRCm39) |
R247G |
probably benign |
Het |
| Tnpo3 |
G |
A |
6: 29,589,047 (GRCm39) |
S101L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,387,622 (GRCm39) |
I4863T |
unknown |
Het |
|
| Other mutations in Cyfip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation