Incidental Mutation 'R5925:Cyfip2'
| ID |
461797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip2
|
| Ensembl Gene |
ENSMUSG00000020340 |
| Gene Name |
cytoplasmic FMR1 interacting protein 2 |
| Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
| MMRRC Submission |
044120-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46098263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1053
(Y1053C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
| AlphaFold |
Q5SQX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093165
AA Change: Y1053C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: Y1053C
| 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 damaging
Transcript: ENSMUST00000093166
AA Change: Y1053C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: Y1053C
| 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: Y747C
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: Y747C
| 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 damaging
Transcript: ENSMUST00000165599
AA Change: Y1053C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: Y1053C
| 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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
C |
T |
5: 66,147,735 (GRCm39) |
W16* |
probably null |
Het |
| Abca8a |
T |
C |
11: 109,948,049 (GRCm39) |
D985G |
probably damaging |
Het |
| Afp |
T |
A |
5: 90,645,147 (GRCm39) |
C188S |
probably damaging |
Het |
| Ank2 |
A |
C |
3: 126,726,612 (GRCm39) |
L894R |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,289,344 (GRCm39) |
I60T |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,175,064 (GRCm39) |
V1733A |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,183,593 (GRCm39) |
S136P |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,703,227 (GRCm39) |
S393P |
probably benign |
Het |
| Diaph1 |
A |
G |
18: 38,024,988 (GRCm39) |
V491A |
unknown |
Het |
| Dync2i1 |
A |
T |
12: 116,197,014 (GRCm39) |
F448I |
possibly damaging |
Het |
| Ehf |
T |
C |
2: 103,097,338 (GRCm39) |
|
probably null |
Het |
| Eif2b5 |
C |
T |
16: 20,326,874 (GRCm39) |
H99Y |
probably benign |
Het |
| Exosc10 |
C |
A |
4: 148,657,819 (GRCm39) |
T655K |
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,706 (GRCm39) |
I53F |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,920,462 (GRCm39) |
D628V |
possibly damaging |
Het |
| Lmo4 |
A |
T |
3: 143,900,252 (GRCm39) |
N83K |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,342,029 (GRCm39) |
T1881S |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,564,439 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,040,376 (GRCm39) |
S314P |
probably benign |
Het |
| Mpzl3 |
G |
T |
9: 44,973,412 (GRCm39) |
K50N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,948 (GRCm39) |
Q1992K |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,785,860 (GRCm39) |
N645K |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,106,482 (GRCm39) |
I49T |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,744 (GRCm39) |
D119G |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,724 (GRCm39) |
D129E |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,187,475 (GRCm39) |
L2P |
unknown |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,906 (GRCm39) |
Y454H |
probably benign |
Het |
| Satb2 |
C |
T |
1: 56,836,097 (GRCm39) |
A565T |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,051 (GRCm39) |
L889Q |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,713 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
T |
C |
4: 155,696,084 (GRCm39) |
V157A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,946 (GRCm39) |
V291A |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,151 (GRCm39) |
D190G |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,943 (GRCm39) |
H170R |
probably benign |
Het |
| Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,726,974 (GRCm39) |
Q9* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,632,592 (GRCm39) |
C12408Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,639,355 (GRCm39) |
D13806G |
probably damaging |
Het |
| Unc79 |
G |
C |
12: 103,091,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,637 (GRCm39) |
S4P |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,450 (GRCm39) |
T576I |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,099 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,366,853 (GRCm39) |
H744R |
possibly damaging |
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 |
|
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 |
|
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'- TTCTTAGCAGAGCTCACGGC -3'
(R):5'- CCAGAACCAAGGAGAAAGTTCTGC -3'
Sequencing Primer
(F):5'- TCGAGAGGAAAGCTCATCCCAG -3'
(R):5'- GGAGAAAGTTCTGCACACTCTAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation