Incidental Mutation 'R5450:Cyfip2'
ID |
429291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyfip2
|
Ensembl Gene |
ENSMUSG00000020340 |
Gene Name |
cytoplasmic FMR1 interacting protein 2 |
Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
MMRRC Submission |
043015-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5450 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46175079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 98
(C98R)
|
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: C98R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000090853 Gene: ENSMUSG00000020340 AA Change: C98R
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: C98R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000090854 Gene: ENSMUSG00000020340 AA Change: C98R
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 benign
Transcript: ENSMUST00000165599
AA Change: C98R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000127586 Gene: ENSMUSG00000020340 AA Change: C98R
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 |
0.1583 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (74/76) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Arhgef4 |
T |
G |
1: 34,846,405 (GRCm39) |
|
probably benign |
Het |
Atg14 |
T |
C |
14: 47,788,921 (GRCm39) |
N144S |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,602,160 (GRCm39) |
M1454K |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,412,327 (GRCm39) |
H138L |
possibly damaging |
Het |
Cd200r2 |
T |
A |
16: 44,729,934 (GRCm39) |
D159E |
probably benign |
Het |
Cd79a |
G |
T |
7: 24,598,687 (GRCm39) |
G79C |
probably damaging |
Het |
Ceacam20 |
A |
G |
7: 19,712,133 (GRCm39) |
H38R |
possibly damaging |
Het |
Cers1 |
T |
C |
8: 70,770,947 (GRCm39) |
L119P |
probably damaging |
Het |
Ces1f |
C |
A |
8: 93,992,423 (GRCm39) |
V343L |
probably benign |
Het |
Ces3a |
G |
A |
8: 105,784,550 (GRCm39) |
G511S |
possibly damaging |
Het |
Cyp2j11 |
C |
A |
4: 96,228,113 (GRCm39) |
V169L |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,860 (GRCm39) |
T523A |
probably benign |
Het |
Ddx31 |
T |
C |
2: 28,776,981 (GRCm39) |
S567P |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dsg1b |
A |
C |
18: 20,542,121 (GRCm39) |
H876P |
probably damaging |
Het |
Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
Eno4 |
T |
C |
19: 58,948,679 (GRCm39) |
F393S |
possibly damaging |
Het |
Eral1 |
C |
T |
11: 77,969,183 (GRCm39) |
D106N |
probably benign |
Het |
Esp18 |
G |
T |
17: 39,719,070 (GRCm39) |
R23M |
probably benign |
Het |
Fam184b |
C |
T |
5: 45,697,143 (GRCm39) |
V674I |
probably benign |
Het |
Fbxw13 |
A |
C |
9: 109,013,225 (GRCm39) |
N154K |
probably benign |
Het |
Gtpbp6 |
A |
G |
5: 110,254,991 (GRCm39) |
V130A |
probably damaging |
Het |
Hc |
T |
C |
2: 34,903,050 (GRCm39) |
D1067G |
possibly damaging |
Het |
Ighg1 |
A |
T |
12: 113,294,126 (GRCm39) |
S6T |
unknown |
Het |
Ikzf3 |
C |
T |
11: 98,357,912 (GRCm39) |
R475H |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,945,796 (GRCm39) |
|
probably null |
Het |
Kcmf1 |
A |
T |
6: 72,819,913 (GRCm39) |
L311* |
probably null |
Het |
Kmt2d |
C |
A |
15: 98,752,967 (GRCm39) |
E184D |
probably damaging |
Het |
Lrguk |
A |
T |
6: 34,047,996 (GRCm39) |
I314F |
probably damaging |
Het |
Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
Mroh1 |
C |
A |
15: 76,316,547 (GRCm39) |
|
probably benign |
Het |
Mx1 |
A |
T |
16: 97,255,347 (GRCm39) |
Y235* |
probably null |
Het |
Or4x6 |
A |
G |
2: 89,949,013 (GRCm39) |
*310Q |
probably null |
Het |
Pamr1 |
T |
G |
2: 102,469,662 (GRCm39) |
Y403D |
probably damaging |
Het |
Panx2 |
A |
G |
15: 88,953,162 (GRCm39) |
E551G |
possibly damaging |
Het |
Patl2 |
A |
G |
2: 121,955,762 (GRCm39) |
V258A |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,074,041 (GRCm39) |
F255L |
probably benign |
Het |
Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
Psg18 |
T |
A |
7: 18,087,350 (GRCm39) |
I103F |
probably benign |
Het |
Rpl39-ps |
A |
G |
15: 102,543,583 (GRCm39) |
|
noncoding transcript |
Het |
Rps6kb1 |
A |
T |
11: 86,423,663 (GRCm39) |
F106I |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sardh |
G |
T |
2: 27,129,710 (GRCm39) |
T245K |
possibly damaging |
Het |
Shprh |
T |
G |
10: 11,088,074 (GRCm39) |
I1619S |
possibly damaging |
Het |
Skint1 |
G |
A |
4: 111,882,729 (GRCm39) |
V258I |
probably benign |
Het |
Slc27a5 |
T |
C |
7: 12,728,869 (GRCm39) |
D331G |
probably benign |
Het |
Slc29a2 |
A |
G |
19: 5,079,303 (GRCm39) |
I309V |
probably benign |
Het |
Slc30a5 |
C |
T |
13: 100,957,680 (GRCm39) |
V130I |
possibly damaging |
Het |
Slc4a3 |
C |
A |
1: 75,529,300 (GRCm39) |
A531D |
probably damaging |
Het |
Slc6a16 |
C |
T |
7: 44,910,672 (GRCm39) |
T399I |
probably benign |
Het |
Slitrk6 |
T |
A |
14: 110,987,529 (GRCm39) |
H726L |
probably benign |
Het |
Snx2 |
A |
G |
18: 53,343,784 (GRCm39) |
K309R |
probably damaging |
Het |
Speer4f2 |
T |
A |
5: 17,578,217 (GRCm39) |
C4S |
possibly damaging |
Het |
Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
Tcstv7a |
A |
T |
13: 120,289,899 (GRCm39) |
V99E |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Vmn1r47 |
T |
C |
6: 89,999,195 (GRCm39) |
L109P |
probably damaging |
Het |
Vmn1r73 |
C |
A |
7: 11,490,376 (GRCm39) |
Q65K |
possibly damaging |
Het |
Vmn1r76 |
T |
C |
7: 11,664,611 (GRCm39) |
Y166C |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,034,011 (GRCm39) |
T504A |
probably benign |
Het |
Wdr75 |
C |
A |
1: 45,851,324 (GRCm39) |
A300E |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,091,039 (GRCm39) |
E149G |
possibly damaging |
Het |
Zbtb18 |
T |
C |
1: 177,274,771 (GRCm39) |
F35L |
probably damaging |
Het |
Zfp366 |
A |
G |
13: 99,366,093 (GRCm39) |
Y418C |
probably 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 |
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'- ATGGCACCAAAGTCTAGATGTG -3'
(R):5'- TTACCACAGCCAGTCTCCAG -3'
Sequencing Primer
(F):5'- GGGACTTCGTGAGCCTTC -3'
(R):5'- AGTCTCCAGGGAGCACTTGTG -3'
|
Posted On |
2016-09-06 |