Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01351:Cyfip1'

75367

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01351

Quality Score

Status

Chromosome

Chromosomal Location

55491556-55582381 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 55547991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 530 (Y530*)

Ref Sequence

ENSEMBL: ENSMUSP00000146194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000085255] [ENSMUST00000163845] [ENSMUST00000206862]

AlphaFold

Q7TMB8

Predicted Effect

probably null
Transcript: ENSMUST00000032629
AA Change: Y560*

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: Y560*

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

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 null
Transcript: ENSMUST00000163845
AA Change: Y560*

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: Y560*

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

probably null
Transcript: ENSMUST00000206862
AA Change: Y530*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174660

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,217,565 (GRCm39)	S336P	probably benign	Het
Abca9	T	C	11: 110,039,729 (GRCm39)	Y428C	probably damaging	Het
Alpk1	T	C	3: 127,466,011 (GRCm39)	Q1165R	probably damaging	Het
Angel2	C	A	1: 190,665,310 (GRCm39)	N80K	probably benign	Het
Bmp6	T	C	13: 38,653,610 (GRCm39)	S226P	probably damaging	Het
Ccar2	T	C	14: 70,383,311 (GRCm39)	T229A	probably benign	Het
Cdh12	G	A	15: 21,237,989 (GRCm39)	V75M	probably damaging	Het
Cdh6	G	T	15: 13,034,326 (GRCm39)	A778E	possibly damaging	Het
Corin	A	T	5: 72,496,334 (GRCm39)	C540S	probably damaging	Het
Dock10	T	G	1: 80,570,876 (GRCm39)	K327N	probably damaging	Het
Dpy19l3	A	G	7: 35,426,840 (GRCm39)		probably benign	Het
E2f8	T	C	7: 48,516,899 (GRCm39)	T827A	probably benign	Het
Edem3	T	C	1: 151,668,136 (GRCm39)	V305A	possibly damaging	Het
Fam170a	T	C	18: 50,414,845 (GRCm39)	W164R	probably benign	Het
Fbxw14	T	C	9: 109,103,640 (GRCm39)	D24G	possibly damaging	Het
Gnmt	T	C	17: 47,037,606 (GRCm39)	D124G	probably benign	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Gsdmd	T	A	15: 75,736,186 (GRCm39)	I105N	probably damaging	Het
Hps5	C	T	7: 46,410,856 (GRCm39)	M1113I	probably damaging	Het
Hyal6	T	C	6: 24,734,178 (GRCm39)	F37S	probably damaging	Het
Il17c	C	T	8: 123,148,862 (GRCm39)	T2I	probably benign	Het
Lyz1	A	G	10: 117,127,093 (GRCm39)	C48R	probably damaging	Het
Or52e18	T	A	7: 104,609,946 (GRCm39)		probably benign	Het
Pafah1b3	G	A	7: 24,994,570 (GRCm39)	R215C	possibly damaging	Het
Psmb4	A	T	3: 94,793,538 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,373,944 (GRCm39)	V5009A	probably benign	Het
Sema6a	T	C	18: 47,414,369 (GRCm39)	K494E	possibly damaging	Het
Sfmbt1	T	C	14: 30,491,777 (GRCm39)	V17A	probably benign	Het
Speg	T	A	1: 75,387,920 (GRCm39)		probably benign	Het
Spint1	A	G	2: 119,076,936 (GRCm39)	D340G	probably damaging	Het
Tasor	A	G	14: 27,186,258 (GRCm39)	E819G	probably benign	Het
Tctn3	T	C	19: 40,596,081 (GRCm39)	I309V	probably benign	Het
Tex19.1	T	A	11: 121,038,072 (GRCm39)	D143E	probably damaging	Het
Tktl2	A	G	8: 66,965,548 (GRCm39)	I369V	probably benign	Het
Tm2d2	A	G	8: 25,510,573 (GRCm39)		probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Zfhx4	A	G	3: 5,466,196 (GRCm39)	Y2118C	probably damaging	Het
Zmynd15	C	A	11: 70,354,416 (GRCm39)	N425K	probably benign	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
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
R6243:Cyfip1	UTSW	7	55,550,277 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07