Incidental Mutation 'R6243:Cyfip1'
| ID |
505382 |
| 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 |
044365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6243 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
55491556-55582381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55550277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 671
(Y671H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032629]
[ENSMUST00000085255]
[ENSMUST00000163845]
[ENSMUST00000206862]
|
| AlphaFold |
Q7TMB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032629
AA Change: Y671H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: Y671H
| 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: Y669H
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: Y669H
| 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 damaging
Transcript: ENSMUST00000163845
AA Change: Y671H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: Y671H
| 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: ENSMUST00000173150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173497
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206862
AA Change: Y641H
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174660
|
| Meta Mutation Damage Score |
0.7198 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (73/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,450,809 (GRCm39) |
S331P |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,115,000 (GRCm39) |
|
probably null |
Het |
| Ankef1 |
A |
G |
2: 136,379,077 (GRCm39) |
E9G |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,336,530 (GRCm39) |
E788G |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asrgl1 |
A |
T |
19: 9,093,868 (GRCm39) |
I220K |
probably damaging |
Het |
| Atg16l2 |
A |
C |
7: 100,941,536 (GRCm39) |
*404E |
probably null |
Het |
| Atp4a |
T |
C |
7: 30,415,382 (GRCm39) |
F334S |
possibly damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,292,495 (GRCm39) |
E17G |
probably benign |
Het |
| Bcat2 |
T |
C |
7: 45,237,691 (GRCm39) |
V279A |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,916,382 (GRCm39) |
M459R |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,760 (GRCm39) |
Y3098C |
unknown |
Het |
| Btaf1 |
T |
A |
19: 36,958,520 (GRCm39) |
M679K |
probably benign |
Het |
| Cirop |
T |
A |
14: 54,933,216 (GRCm39) |
R322S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,589 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Crhr1 |
G |
A |
11: 104,064,740 (GRCm39) |
C364Y |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,446,288 (GRCm39) |
L648P |
probably damaging |
Het |
| Cyp2b13 |
C |
T |
7: 25,761,044 (GRCm39) |
P34S |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,986,131 (GRCm39) |
V233E |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,301,216 (GRCm39) |
H191L |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,781 (GRCm39) |
D817E |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,686,680 (GRCm39) |
Q330R |
possibly damaging |
Het |
| Fads1 |
G |
T |
19: 10,163,091 (GRCm39) |
E123* |
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,921,016 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,938 (GRCm39) |
E270G |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,172 (GRCm39) |
H41L |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,756,096 (GRCm39) |
N985S |
possibly damaging |
Het |
| Gp1ba |
T |
C |
11: 70,530,963 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Igf2bp3 |
A |
T |
6: 49,084,362 (GRCm39) |
N285K |
possibly damaging |
Het |
| Lca5l |
G |
A |
16: 95,980,112 (GRCm39) |
T6I |
possibly damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,604 (GRCm39) |
H354R |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,290,999 (GRCm39) |
V195E |
possibly damaging |
Het |
| Mtfmt |
C |
T |
9: 65,351,182 (GRCm39) |
T243I |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,500,208 (GRCm39) |
I195K |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,380 (GRCm39) |
K300E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,260,105 (GRCm39) |
S628P |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,892,944 (GRCm39) |
A721S |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,385 (GRCm39) |
M1V |
probably null |
Het |
| Or5d47 |
A |
G |
2: 87,804,931 (GRCm39) |
V26A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,726,457 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,065,320 (GRCm39) |
S12G |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,382,826 (GRCm39) |
Y289H |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,149,954 (GRCm39) |
I717T |
probably damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,846,299 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,510,373 (GRCm39) |
I354V |
probably benign |
Het |
| Prss2 |
T |
C |
6: 41,501,387 (GRCm39) |
V152A |
probably benign |
Het |
| Rab28 |
C |
T |
5: 41,793,223 (GRCm39) |
A141T |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,472,877 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
G |
2: 25,475,415 (GRCm39) |
S553R |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,717,374 (GRCm39) |
F170S |
possibly damaging |
Het |
| Ror2 |
T |
A |
13: 53,267,116 (GRCm39) |
M440L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph4a |
A |
T |
10: 33,785,139 (GRCm39) |
Q350L |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,450,869 (GRCm39) |
F204L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,533,257 (GRCm39) |
|
probably null |
Het |
| Shisa3 |
C |
T |
5: 67,768,486 (GRCm39) |
P129S |
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,534 (GRCm39) |
L111F |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,743,025 (GRCm39) |
R1195W |
probably damaging |
Het |
| Syna |
C |
A |
5: 134,588,968 (GRCm39) |
|
probably benign |
Het |
| Thada |
A |
T |
17: 84,744,030 (GRCm39) |
D759E |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,869,753 (GRCm39) |
Y385C |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,327,601 (GRCm39) |
D1424N |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,090,599 (GRCm39) |
Q1204L |
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,671 (GRCm39) |
N43S |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ugt2a2 |
T |
G |
5: 87,610,818 (GRCm39) |
K339N |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,947,211 (GRCm39) |
T514A |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,774,682 (GRCm39) |
M652K |
possibly damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,083,184 (GRCm39) |
Y550F |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,099,269 (GRCm39) |
P322S |
probably 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 |
|
R5294:Cyfip1
|
UTSW |
7 |
55,523,231 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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'- TTTACCATGGGAAGTAAGGAATTGG -3'
(R):5'- ACGTCACCATTTAAACTACTGTGCAG -3'
Sequencing Primer
(F):5'- CACAAGTCCTTGGCTTCA -3'
(R):5'- GGATGAGGGCTTAATACTCTCACC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation