Incidental Mutation 'R5294:Cyfip1'
| ID |
405302 |
| 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 |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
55491556-55582381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55523231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 52
(M52K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032629]
[ENSMUST00000085255]
[ENSMUST00000163845]
[ENSMUST00000173783]
[ENSMUST00000206862]
|
| AlphaFold |
Q7TMB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032629
AA Change: M82K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: M82K
| 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 |
probably benign
Transcript: ENSMUST00000085255
AA Change: M82K
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: M82K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
385 |
1222 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163845
AA Change: M82K
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: M82K
| 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 |
probably benign
Transcript: ENSMUST00000173783
AA Change: M82K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134509
Gene: ENSMUSG00000030447
AA Change: M82K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4N78|A
|
1 |
230 |
1e-142 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206862
AA Change: M52K
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.4524 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
| Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
| Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
| Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
| Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
| Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
| Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
possibly damaging |
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 |
|
R5552:Cyfip1
|
UTSW |
7 |
55,521,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- ACAGTGTGCCTCTTGTCAGG -3'
(R):5'- TTCAAGGACTTCCACGGTTTTC -3'
Sequencing Primer
(F):5'- TCAGGCTACCGTGTCTCAAGAG -3'
(R):5'- GTTGCACTTCACCTGAGCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation