Mutagenetix > Incidental Mutations

Incidental Mutation 'R7224:Cyfip1'

562024

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7224 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

55841745-55932602 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGTGT to AGT at 55928189 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000032635] [ENSMUST00000085255] [ENSMUST00000117812] [ENSMUST00000119041] [ENSMUST00000119201] [ENSMUST00000163845] [ENSMUST00000206862]

Predicted Effect

probably null
Transcript: ENSMUST00000032629

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447

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: ENSMUST00000032635

SMART Domains

Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	306	3.2e-150	PFAM
Pfam:EmrE	16	135	6.2e-12	PFAM
Pfam:EamA	52	128	9.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000085255

SMART Domains

Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447

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: ENSMUST00000117812

SMART Domains

Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	8	302	1.4e-151	PFAM
Pfam:EamA	47	128	4.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119041

SMART Domains

Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	306	3.2e-150	PFAM
Pfam:EmrE	16	135	6.2e-12	PFAM
Pfam:EamA	52	128	9.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119201

SMART Domains

Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452

Domain	Start	End	E-Value	Type
Pfam:Mg_trans_NIPA	6	306	3.2e-150	PFAM
Pfam:EmrE	16	135	6.2e-12	PFAM
Pfam:EamA	52	128	9.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163845

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	385	1224	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206862

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Chsy3	T	A	18: 59,408,975	L395H	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Ggt1	T	A	10: 75,574,276	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Igsf9	T	C	1: 172,494,782	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Magi1	A	G	6: 93,683,089	I1175T	probably benign	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,394,324	V90A		Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		probably null	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
R5294:Cyfip1	UTSW	7	55873483	missense	possibly damaging	0.88
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
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
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'- TGGGTACTTTGTGTCTTTCATCTACT -3'
(R):5'- TGTGTCAATAATCTGAAAATGCAGT -3'

Sequencing Primer
(F):5'- TCCTATTGATGACCAATGAGGCC -3'
(R):5'- GAAAATGCAGTTAAGATAAGTAGATC -3'

Posted On

2019-06-26