Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Cyfip1'

405302

Institutional Source

Beutler Lab

Gene Symbol

Cyfip1

Ensembl Gene

ENSMUSG00000030447

Gene Name

cytoplasmic FMR1 interacting protein 1

Synonyms

l(7)1Rl, pl-1, P140SRA-1, l7Rl1, Sra-1, Shyc, E030028J09Rik

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55841745-55932602 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55873483 bp (GRCm38)

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: 89,152,003		noncoding transcript	Het
Acaca	A	G	11: 84,391,519	E2154G	probably benign	Het
Acacb	T	C	5: 114,241,952	F2056L	probably damaging	Het
Aff1	A	G	5: 103,811,157		probably benign	Het
Amn1	T	A	6: 149,185,124		probably benign	Het
Arid1a	C	A	4: 133,691,055		probably benign	Het
Aste1	T	A	9: 105,402,705		probably null	Het
Asxl3	T	A	18: 22,516,439	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,988,048	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,628,766	L207P	probably damaging	Het
Baz2b	T	C	2: 59,978,602	H101R	probably benign	Het
Bicc1	G	A	10: 70,947,900	T387M	possibly damaging	Het
Champ1	A	C	8: 13,878,981	K380Q	probably damaging	Het
Cnst	A	G	1: 179,610,440	E523G	probably benign	Het
Cops6	G	C	5: 138,161,116		probably benign	Het
Cp	G	C	3: 19,966,316	V158L	probably benign	Het
Dars	A	T	1: 128,364,302	F480I	probably benign	Het
Diaph1	C	A	18: 37,897,550	E284*	probably null	Het
Diaph1	T	C	18: 37,897,580	M274V	unknown	Het
Dock8	G	A	19: 25,061,153	V68M	probably benign	Het
Elavl4	A	G	4: 110,211,430	F247L	possibly damaging	Het
Emc10	C	T	7: 44,496,439		probably benign	Het
Fbxw16	T	C	9: 109,436,644	D369G	probably benign	Het
Fgr	A	T	4: 132,997,500	D304V	probably benign	Het
Filip1l	G	A	16: 57,570,036	S91N	possibly damaging	Het
Gm884	A	G	11: 103,616,231		probably benign	Het
Haus8	A	G	8: 71,255,710	S103P	unknown	Het
Hscb	A	G	5: 110,834,792	L143P	probably damaging	Het
Hsd11b2	A	T	8: 105,523,297	M347L	probably benign	Het
Jrk	C	A	15: 74,707,336	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,121,832	Y123*	probably null	Het
Mis18bp1	A	C	12: 65,157,043	M59R	probably damaging	Het
Mrps27	T	C	13: 99,409,873	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,427,794	V488L	possibly damaging	Het
Nepn	A	T	10: 52,400,800	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,517,506		probably null	Het
Olfr248	A	T	1: 174,391,225	Y52F	probably benign	Het
Olfr692	C	T	7: 105,368,413	T20I	probably benign	Het
Olfr748	A	G	14: 50,710,779	I150V	probably benign	Het
Olfr748	A	G	14: 50,710,443	T38A	possibly damaging	Het
Otud4	A	T	8: 79,672,892	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,115,568	I166N	possibly damaging	Het
Pak2	T	A	16: 32,021,830	N478Y	probably damaging	Het
Papss2	A	G	19: 32,639,000	D202G	probably benign	Het
Pcdh7	C	A	5: 57,728,111		probably null	Het
Peg3	C	A	7: 6,717,849	S19I	possibly damaging	Het
Prim2	G	T	1: 33,668,893	T40K	probably benign	Het
Ranbp2	T	C	10: 58,478,668	F1737L	probably benign	Het
Rex2	A	C	4: 147,057,985	N310T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf39	C	T	17: 36,947,200	A86V	probably damaging	Het
Ror1	A	T	4: 100,425,938	N400I	probably benign	Het
Slc38a8	C	T	8: 119,494,289	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,956,310	V445A	probably benign	Het
Sptbn2	A	G	19: 4,718,908	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,008,218	F74L	probably benign	Het
Trappc11	G	C	8: 47,530,731	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,472,488	K350R	probably damaging	Het
Trnt1	T	C	6: 106,773,414	F93S	probably damaging	Het
Ube2c	T	C	2: 164,777,190	V161A	probably benign	Het
Usp24	A	G	4: 106,362,357	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,651,864	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,455,113	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,069,754	C517*	probably null	Het
Vps13a	A	T	19: 16,641,667	I2845N	probably damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Xpo5	T	C	17: 46,236,922	V896A	probably benign	Het
Zfp2	T	C	11: 50,901,241		probably benign	Het
Zgrf1	G	A	3: 127,600,980	M1328I	probably benign	Het
Zswim5	A	G	4: 116,979,577	D686G	possibly damaging	Het

Other mutations in Cyfip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Cyfip1	APN	7	55904210	missense	probably damaging	1.00
IGL01351:Cyfip1	APN	7	55898243	nonsense	probably null
IGL01662:Cyfip1	APN	7	55896739	missense	probably damaging	1.00
IGL02034:Cyfip1	APN	7	55898353	missense	probably damaging	0.99
IGL02039:Cyfip1	APN	7	55875021	missense	possibly damaging	0.90
IGL02063:Cyfip1	APN	7	55926348	missense	probably damaging	1.00
IGL02429:Cyfip1	APN	7	55871982	splice site	probably benign
IGL03256:Cyfip1	APN	7	55907434	missense	possibly damaging	0.67
R0455:Cyfip1	UTSW	7	55892054	missense	probably benign	0.18
R0546:Cyfip1	UTSW	7	55922816	nonsense	probably null
R0671:Cyfip1	UTSW	7	55923962	splice site	probably null
R0732:Cyfip1	UTSW	7	55886781	missense	probably damaging	1.00
R0843:Cyfip1	UTSW	7	55922820	missense	probably benign	0.24
R1666:Cyfip1	UTSW	7	55871898	missense	probably damaging	0.99
R1789:Cyfip1	UTSW	7	55926395	missense	probably damaging	1.00
R1817:Cyfip1	UTSW	7	55873448	missense	possibly damaging	0.51
R1929:Cyfip1	UTSW	7	55899957	missense	probably null	1.00
R2271:Cyfip1	UTSW	7	55899957	missense	probably null	1.00
R2272:Cyfip1	UTSW	7	55899957	missense	probably null	1.00
R2328:Cyfip1	UTSW	7	55894991	missense	possibly damaging	0.87
R2518:Cyfip1	UTSW	7	55928284	missense	probably damaging	1.00
R2963:Cyfip1	UTSW	7	55895035	missense	probably damaging	0.99
R4271:Cyfip1	UTSW	7	55879101	missense	probably benign	0.02
R4435:Cyfip1	UTSW	7	55900041	missense	probably damaging	0.99
R4640:Cyfip1	UTSW	7	55913451	missense	possibly damaging	0.92
R4676:Cyfip1	UTSW	7	55875013	missense	probably damaging	0.99
R4887:Cyfip1	UTSW	7	55872068	missense	probably damaging	1.00
R5085:Cyfip1	UTSW	7	55898335	missense	probably benign	0.33
R5238:Cyfip1	UTSW	7	55892031	missense	probably benign
R5244:Cyfip1	UTSW	7	55925199	missense	probably damaging	1.00
R5288:Cyfip1	UTSW	7	55925135	missense	possibly damaging	0.60
R5552:Cyfip1	UTSW	7	55872107	missense	possibly damaging	0.94
R5558:Cyfip1	UTSW	7	55892001	missense	possibly damaging	0.71
R5667:Cyfip1	UTSW	7	55873730	missense	probably benign	0.19
R5819:Cyfip1	UTSW	7	55879151	missense	probably damaging	1.00
R5859:Cyfip1	UTSW	7	55925181	missense	probably damaging	1.00
R5867:Cyfip1	UTSW	7	55926313	missense	probably damaging	1.00
R5868:Cyfip1	UTSW	7	55926313	missense	probably damaging	1.00
R5944:Cyfip1	UTSW	7	55872130	missense	probably damaging	0.98
R6124:Cyfip1	UTSW	7	55897943	missense	probably benign	0.12
R6131:Cyfip1	UTSW	7	55873480	missense	possibly damaging	0.79
R6219:Cyfip1	UTSW	7	55908441	missense	possibly damaging	0.52
R6243:Cyfip1	UTSW	7	55900529	missense	probably damaging	1.00
R6669:Cyfip1	UTSW	7	55900061	missense	probably damaging	0.99
R6869:Cyfip1	UTSW	7	55907365	missense	possibly damaging	0.73
R7014:Cyfip1	UTSW	7	55919493	missense	probably benign	0.34
R7224:Cyfip1	UTSW	7	55928189	frame shift	probably null
R7225:Cyfip1	UTSW	7	55928189	frame shift	probably null
R7305:Cyfip1	UTSW	7	55928189	frame shift	probably null
R7336:Cyfip1	UTSW	7	55926400	missense	possibly damaging	0.96
R7429:Cyfip1	UTSW	7	55900593	missense	probably damaging	1.00
R7430:Cyfip1	UTSW	7	55900593	missense	probably damaging	1.00
R7469:Cyfip1	UTSW	7	55877720	missense	possibly damaging	0.91
R7568:Cyfip1	UTSW	7	55872249	splice site	probably null
R7830:Cyfip1	UTSW	7	55873462	missense	probably damaging	1.00
R7839:Cyfip1	UTSW	7	55886735	missense	probably damaging	0.98
R7859:Cyfip1	UTSW	7	55900026	missense	probably damaging	1.00
R7965:Cyfip1	UTSW	7	55896775	missense	possibly damaging	0.78
R8176:Cyfip1	UTSW	7	55924427	missense	probably benign	0.12
R8386:Cyfip1	UTSW	7	55877740	missense	probably damaging	1.00
R8388:Cyfip1	UTSW	7	55872125	missense	probably damaging	1.00
R8444:Cyfip1	UTSW	7	55872154	missense	possibly damaging	0.64
R8845:Cyfip1	UTSW	7	55930086	missense	probably benign	0.00
R8986:Cyfip1	UTSW	7	55908392	missense	probably damaging	1.00
R9197:Cyfip1	UTSW	7	55904474	missense	probably null	0.31
R9214:Cyfip1	UTSW	7	55873525	critical splice donor site	probably null
R9228:Cyfip1	UTSW	7	55900010	missense	probably damaging	1.00
R9269:Cyfip1	UTSW	7	55907431	nonsense	probably null
R9336:Cyfip1	UTSW	7	55904441	missense	probably benign	0.01
R9599:Cyfip1	UTSW	7	55913529	critical splice donor site	probably null
R9622:Cyfip1	UTSW	7	55879105	missense	possibly damaging	0.87
X0018:Cyfip1	UTSW	7	55900025	missense	probably damaging	0.98
X0028:Cyfip1	UTSW	7	55907430	missense	probably damaging	1.00
Z1088:Cyfip1	UTSW	7	55875052	missense	probably damaging	0.99
Z1177:Cyfip1	UTSW	7	55898320	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