Incidental Mutation 'R5552:Cyfip1'
| ID |
435178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyfip1
|
| Ensembl Gene |
ENSMUSG00000030447 |
| Gene Name |
cytoplasmic FMR1 interacting protein 1 |
| Synonyms |
l7Rl1, E030028J09Rik, pl-1, Shyc, P140SRA-1, Sra-1, l(7)1Rl |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
55491556-55582381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55521855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 53
(V53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032629]
[ENSMUST00000085255]
[ENSMUST00000163845]
[ENSMUST00000173783]
[ENSMUST00000206862]
|
| AlphaFold |
Q7TMB8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032629
AA Change: V53A
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:DUF1394
|
59 |
302 |
5.7e-11 |
PFAM |
|
Pfam:FragX_IP
|
389 |
1222 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085255
AA Change: V53A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
385 |
1222 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163845
AA Change: V53A
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
385 |
1224 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168271
|
| SMART Domains |
Protein: ENSMUSP00000131596
Gene: ENSMUSG00000030447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:DUF1394
|
57 |
267 |
1.8e-9 |
PFAM |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173497
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173783
AA Change: V53A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134509
Gene: ENSMUSG00000030447
AA Change: V53A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4N78|A
|
1 |
230 |
1e-142 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206862
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity. [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 |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
| Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Dcst1 |
T |
C |
3: 89,272,373 (GRCm39) |
D30G |
probably benign |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
probably null |
Het |
|
| Other mutations in Cyfip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Cyfip1
|
APN |
7 |
55,553,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01351:Cyfip1
|
APN |
7 |
55,547,991 (GRCm39) |
nonsense |
probably null |
|
|
IGL01662:Cyfip1
|
APN |
7 |
55,546,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02034:Cyfip1
|
APN |
7 |
55,548,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02039:Cyfip1
|
APN |
7 |
55,524,769 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02063:Cyfip1
|
APN |
7 |
55,576,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Cyfip1
|
APN |
7 |
55,521,730 (GRCm39) |
splice site |
probably benign |
|
|
IGL03256:Cyfip1
|
APN |
7 |
55,557,182 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0455:Cyfip1
|
UTSW |
7 |
55,541,802 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0546:Cyfip1
|
UTSW |
7 |
55,572,564 (GRCm39) |
nonsense |
probably null |
|
|
R0671:Cyfip1
|
UTSW |
7 |
55,573,710 (GRCm39) |
splice site |
probably null |
|
|
R0732:Cyfip1
|
UTSW |
7 |
55,536,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Cyfip1
|
UTSW |
7 |
55,572,568 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1666:Cyfip1
|
UTSW |
7 |
55,521,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Cyfip1
|
UTSW |
7 |
55,576,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Cyfip1
|
UTSW |
7 |
55,523,196 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1929:Cyfip1
|
UTSW |
7 |
55,549,705 (GRCm39) |
missense |
probably null |
1.00 |
|
R2271:Cyfip1
|
UTSW |
7 |
55,549,705 (GRCm39) |
missense |
probably null |
1.00 |
|
R2272:Cyfip1
|
UTSW |
7 |
55,549,705 (GRCm39) |
missense |
probably null |
1.00 |
|
R2328:Cyfip1
|
UTSW |
7 |
55,544,739 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2518:Cyfip1
|
UTSW |
7 |
55,578,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2963:Cyfip1
|
UTSW |
7 |
55,544,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4271:Cyfip1
|
UTSW |
7 |
55,528,849 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4435:Cyfip1
|
UTSW |
7 |
55,549,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4640:Cyfip1
|
UTSW |
7 |
55,563,199 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4676:Cyfip1
|
UTSW |
7 |
55,524,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4887:Cyfip1
|
UTSW |
7 |
55,521,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Cyfip1
|
UTSW |
7 |
55,548,083 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5238:Cyfip1
|
UTSW |
7 |
55,541,779 (GRCm39) |
missense |
probably benign |
|
|
R5244:Cyfip1
|
UTSW |
7 |
55,574,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Cyfip1
|
UTSW |
7 |
55,574,883 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5294:Cyfip1
|
UTSW |
7 |
55,523,231 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5558:Cyfip1
|
UTSW |
7 |
55,541,749 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5667:Cyfip1
|
UTSW |
7 |
55,523,478 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5819:Cyfip1
|
UTSW |
7 |
55,528,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Cyfip1
|
UTSW |
7 |
55,574,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Cyfip1
|
UTSW |
7 |
55,576,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Cyfip1
|
UTSW |
7 |
55,576,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Cyfip1
|
UTSW |
7 |
55,521,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6124:Cyfip1
|
UTSW |
7 |
55,547,691 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6131:Cyfip1
|
UTSW |
7 |
55,523,228 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6219:Cyfip1
|
UTSW |
7 |
55,558,189 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6243:Cyfip1
|
UTSW |
7 |
55,550,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Cyfip1
|
UTSW |
7 |
55,549,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6869:Cyfip1
|
UTSW |
7 |
55,557,113 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7014:Cyfip1
|
UTSW |
7 |
55,569,241 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7224:Cyfip1
|
UTSW |
7 |
55,577,937 (GRCm39) |
frame shift |
probably null |
|
|
R7225:Cyfip1
|
UTSW |
7 |
55,577,937 (GRCm39) |
frame shift |
probably null |
|
|
R7305:Cyfip1
|
UTSW |
7 |
55,577,937 (GRCm39) |
frame shift |
probably null |
|
|
R7336:Cyfip1
|
UTSW |
7 |
55,576,148 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7429:Cyfip1
|
UTSW |
7 |
55,550,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Cyfip1
|
UTSW |
7 |
55,550,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Cyfip1
|
UTSW |
7 |
55,527,468 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7568:Cyfip1
|
UTSW |
7 |
55,521,997 (GRCm39) |
splice site |
probably null |
|
|
R7830:Cyfip1
|
UTSW |
7 |
55,523,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Cyfip1
|
UTSW |
7 |
55,536,483 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7859:Cyfip1
|
UTSW |
7 |
55,549,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Cyfip1
|
UTSW |
7 |
55,546,523 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8176:Cyfip1
|
UTSW |
7 |
55,574,175 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8386:Cyfip1
|
UTSW |
7 |
55,527,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8388:Cyfip1
|
UTSW |
7 |
55,521,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Cyfip1
|
UTSW |
7 |
55,521,902 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8845:Cyfip1
|
UTSW |
7 |
55,579,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8986:Cyfip1
|
UTSW |
7 |
55,558,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Cyfip1
|
UTSW |
7 |
55,554,222 (GRCm39) |
missense |
probably null |
0.31 |
|
R9214:Cyfip1
|
UTSW |
7 |
55,523,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9228:Cyfip1
|
UTSW |
7 |
55,549,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Cyfip1
|
UTSW |
7 |
55,557,179 (GRCm39) |
nonsense |
probably null |
|
|
R9336:Cyfip1
|
UTSW |
7 |
55,554,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9599:Cyfip1
|
UTSW |
7 |
55,563,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9622:Cyfip1
|
UTSW |
7 |
55,528,853 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0018:Cyfip1
|
UTSW |
7 |
55,549,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Cyfip1
|
UTSW |
7 |
55,557,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cyfip1
|
UTSW |
7 |
55,524,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cyfip1
|
UTSW |
7 |
55,548,068 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACTAGAGGACGCACTG -3'
(R):5'- GGCAAAGAATTTCTCTGGGC -3'
Sequencing Primer
(F):5'- ACGCACTGTCCAATGTGG -3'
(R):5'- GGTGTCCTGGAACTCACTCTATAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation