Mutagenetix > Incidental Mutations

Incidental Mutation 'R7225:Cyfip1'

562096

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 #

R7225 (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 (GRCm38)

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]

AlphaFold

Q7TMB8

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	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
R7224: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
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'- GGGTACTTTGTGTCTTTCATCTACT -3'
(R):5'- TGTGTCAATAATCTGAAAATGCAGTT -3'

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

Posted On

2019-06-26