Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Cyfip1'

201614

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

039820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55841745-55932602 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55926395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1104 (D1104E)

Ref Sequence

ENSEMBL: ENSMUSP00000082353 (fasta)

Gene Model

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

AlphaFold

Q7TMB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032629
AA Change: D1106E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: D1106E

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 damaging
Transcript: ENSMUST00000085255
AA Change: D1104E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: D1104E

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

possibly damaging
Transcript: ENSMUST00000163845
AA Change: D1106E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: D1106E

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: ENSMUST00000173267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205656

Predicted Effect

probably benign
Transcript: ENSMUST00000206862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206417

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993		probably null	Het
Chrna5	T	C	9: 55,004,651	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305		probably null	Het
Col5a2	T	C	1: 45,394,776	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146	D340G	probably benign	Het
Dnah11	A	T	12: 118,038,780	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057		probably benign	Het
Grin3b	T	C	10: 79,973,408	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512		probably null	Het
Itgb8	T	C	12: 119,202,455	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074		probably benign	Het
L3mbtl1	A	G	2: 162,974,502	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Myo10	T	G	15: 25,726,525		probably null	Het
Myo1e	T	A	9: 70,338,784	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459		probably benign	Het
Spag17	T	A	3: 99,939,356	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488		probably benign	Het
Stil	T	A	4: 115,041,782	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246	Q478*	probably null	Het
Tg	A	T	15: 66,737,548	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435		probably null	Het
Zfp277	A	G	12: 40,364,085	F254L	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
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
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'- CTGCAAAACCCTGTTCTGCC -3'
(R):5'- GTGTACCGACTTCACACTCC -3'

Sequencing Primer
(F):5'- CCTATCTACTACTGAGTAAGTTGGC -3'
(R):5'- CATGGCACTCCATAGTCT -3'

Posted On

2014-06-23