Incidental Mutation 'R7258:Cyfip2'
| ID |
564436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip2
|
| Ensembl Gene |
ENSMUSG00000020340 |
| Gene Name |
cytoplasmic FMR1 interacting protein 2 |
| Synonyms |
6430511D02Rik, Pir121, 1500004I01Rik |
| MMRRC Submission |
045386-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7258 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
46084677-46203686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46115004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 901
(Y901C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093165]
[ENSMUST00000093166]
[ENSMUST00000165599]
|
| AlphaFold |
Q5SQX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093165
AA Change: Y901C
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: Y901C
| 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: Y901C
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: Y901C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
384 |
1223 |
N/A |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340
AA Change: Y595C
| 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: Y901C
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: Y901C
| 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 |
0.2620 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
C |
8: 88,312,805 (GRCm39) |
S197R |
probably damaging |
Het |
| Abcc12 |
T |
C |
8: 87,287,486 (GRCm39) |
R120G |
possibly damaging |
Het |
| Abhd14b |
A |
G |
9: 106,327,418 (GRCm39) |
I67V |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,518,115 (GRCm39) |
V62E |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Ccr5 |
A |
T |
9: 123,925,311 (GRCm39) |
K305* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,518 (GRCm39) |
H339R |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,899,648 (GRCm38) |
F91L |
|
Het |
| Cep290 |
T |
G |
10: 100,334,970 (GRCm39) |
M330R |
probably benign |
Het |
| Ddx54 |
T |
G |
5: 120,758,812 (GRCm39) |
Y352D |
probably damaging |
Het |
| Defa35 |
A |
T |
8: 21,555,245 (GRCm39) |
H55L |
possibly damaging |
Het |
| Dnmt3b |
T |
A |
2: 153,525,519 (GRCm39) |
|
probably null |
Het |
| Enpep |
A |
C |
3: 129,125,724 (GRCm39) |
L136R |
probably benign |
Het |
| Epb41l2 |
G |
A |
10: 25,360,185 (GRCm39) |
A516T |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,305,764 (GRCm39) |
Q13L |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,269,974 (GRCm39) |
D271E |
possibly damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,542 (GRCm39) |
L410H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,871,352 (GRCm39) |
E58G |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,106 (GRCm39) |
V269E |
probably benign |
Het |
| Grm5 |
A |
T |
7: 87,723,914 (GRCm39) |
T735S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,819 (GRCm39) |
M9V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,591,574 (GRCm39) |
I1875T |
probably benign |
Het |
| Hrc |
T |
A |
7: 44,985,720 (GRCm39) |
D290E |
possibly damaging |
Het |
| Iftap |
T |
C |
2: 101,440,937 (GRCm39) |
D22G |
probably null |
Het |
| Ippk |
C |
A |
13: 49,587,338 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,972,711 (GRCm39) |
T391A |
probably damaging |
Het |
| Kdm5b |
A |
C |
1: 134,548,759 (GRCm39) |
E1088A |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,101 (GRCm39) |
A432V |
probably benign |
Het |
| Ly86 |
A |
G |
13: 37,529,473 (GRCm39) |
D20G |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,459,416 (GRCm39) |
I818T |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,986,051 (GRCm39) |
T121A |
probably benign |
Het |
| Or1e31 |
T |
G |
11: 73,690,206 (GRCm39) |
I126L |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,352 (GRCm39) |
I98K |
probably damaging |
Het |
| Or51af1 |
G |
C |
7: 103,141,796 (GRCm39) |
C96W |
probably damaging |
Het |
| Or6b3 |
A |
T |
1: 92,438,898 (GRCm39) |
I284N |
possibly damaging |
Het |
| Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
| Or8k37 |
T |
A |
2: 86,469,345 (GRCm39) |
K236* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,167 (GRCm39) |
L387P |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,241,305 (GRCm39) |
R95H |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,970,250 (GRCm39) |
D502G |
possibly damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,064,203 (GRCm39) |
D446G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
| Rasal2 |
A |
T |
1: 156,985,270 (GRCm39) |
L826M |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Sin3b |
T |
C |
8: 73,476,836 (GRCm39) |
C757R |
probably benign |
Het |
| Slc41a1 |
T |
A |
1: 131,769,780 (GRCm39) |
V300D |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,789 (GRCm39) |
I40L |
probably benign |
Het |
| Snrpa1 |
T |
C |
7: 65,719,891 (GRCm39) |
F162L |
probably damaging |
Het |
| Sox30 |
C |
A |
11: 45,871,379 (GRCm39) |
A78E |
unknown |
Het |
| Ssc4d |
G |
T |
5: 135,991,941 (GRCm39) |
A401E |
probably damaging |
Het |
| Steap3 |
A |
G |
1: 120,171,716 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stx5a |
A |
G |
19: 8,732,271 (GRCm39) |
|
probably null |
Het |
| Tgfbr2 |
A |
T |
9: 115,958,898 (GRCm39) |
I172N |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,272 (GRCm39) |
S96P |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,973,473 (GRCm39) |
T282P |
probably damaging |
Het |
| Uba5 |
A |
T |
9: 103,940,132 (GRCm39) |
V5E |
unknown |
Het |
| Ugt2b36 |
A |
T |
5: 87,228,762 (GRCm39) |
L427H |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,691 (GRCm39) |
H196Q |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,848 (GRCm39) |
L348F |
probably damaging |
Het |
| Vmn2r93 |
T |
G |
17: 18,525,403 (GRCm39) |
L354V |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,296,034 (GRCm39) |
N1079Y |
unknown |
Het |
| Zfp653 |
T |
C |
9: 21,977,116 (GRCm39) |
D145G |
probably benign |
Het |
| Zfp777 |
T |
C |
6: 48,002,731 (GRCm39) |
E453G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,803 (GRCm39) |
H423Q |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,514,151 (GRCm39) |
Y496N |
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 |
|
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 |
|
|
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'- CTCCAGGGTGATGCCAATTG -3'
(R):5'- CACTCCAGGACCAGTGTTTTGC -3'
Sequencing Primer
(F):5'- CAGCTAGGTTCAGTTTTCAGCTCAG -3'
(R):5'- CCAGGACCAGTGTTTTGCAAAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation