Mutagenetix > Incidental Mutation

Incidental Mutation 'R2328:Cyfip1'

245756

Institutional Source

Beutler Lab

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

MMRRC Submission

040319-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55491556-55582381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55544739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 457 (M457K)

Ref Sequence

ENSEMBL: ENSMUSP00000127717 (fasta)

Gene Model

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

AlphaFold

Q7TMB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032629
AA Change: M457K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: M457K

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: M457K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: M457K

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	385	1222	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163845
AA Change: M457K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: M457K

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: ENSMUST00000173267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173497

Predicted Effect

probably benign
Transcript: ENSMUST00000206862
AA Change: M427K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174660

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,182,502 (GRCm39)	Y322F	probably benign	Het
Abca5	T	C	11: 110,167,347 (GRCm39)	T1490A	probably damaging	Het
Akap1	A	G	11: 88,735,870 (GRCm39)	V264A	possibly damaging	Het
Cggbp1	A	G	16: 64,676,366 (GRCm39)	D144G	probably benign	Het
Cubn	C	A	2: 13,408,891 (GRCm39)	G1352*	probably null	Het
Dag1	T	C	9: 108,086,451 (GRCm39)	N230S	probably damaging	Het
Dbh	T	C	2: 27,055,742 (GRCm39)	V72A	probably benign	Het
Dnah11	A	G	12: 117,850,421 (GRCm39)	S4218P	probably damaging	Het
Dnah8	A	T	17: 31,013,718 (GRCm39)	I3820F	probably damaging	Het
Erbb3	C	T	10: 128,419,562 (GRCm39)	C186Y	probably damaging	Het
Foxd1	T	C	13: 98,491,660 (GRCm39)	I178T	probably damaging	Het
Gpc5	C	T	14: 116,025,591 (GRCm39)	R470W	probably damaging	Het
Hace1	G	T	10: 45,525,041 (GRCm39)	R269L	probably benign	Het
Inpp5a	A	T	7: 139,058,010 (GRCm39)	K73*	probably null	Het
Or10d5j	A	G	9: 39,868,196 (GRCm39)	F24L	possibly damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Pzp	T	C	6: 128,487,353 (GRCm39)	I504V	possibly damaging	Het
Scgb1b19	T	A	7: 32,987,911 (GRCm39)	C93S	probably damaging	Het
Setx	TGTGG	T	2: 29,044,072 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slamf6	G	A	1: 171,761,818 (GRCm39)	V80I	probably benign	Het
Snapc3	T	A	4: 83,353,514 (GRCm39)	Y184*	probably null	Het
Spg21	T	C	9: 65,394,155 (GRCm39)	I284T	possibly damaging	Het
Tas2r123	A	T	6: 132,824,279 (GRCm39)	T59S	probably benign	Het
Trip11	T	G	12: 101,845,086 (GRCm39)	*139C	probably null	Het
Trp53inp1	T	C	4: 11,164,495 (GRCm39)	V13A	probably benign	Het
Wtap	C	T	17: 13,186,425 (GRCm39)	R374Q	possibly damaging	Het
Ydjc	A	G	16: 16,964,986 (GRCm39)	E47G	possibly damaging	Het
Zc3h6	A	G	2: 128,835,122 (GRCm39)	D86G	possibly damaging	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
IGL01351:Cyfip1	APN	7	55,547,991 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGATGAGTTCAGTTGCTGGC -3'
(R):5'- ATCTAGGCTCCATCCACTGC -3'

Sequencing Primer
(F):5'- TTCAGTTGCTGGCAGGCAC -3'
(R):5'- ATCCACTGCTTTGGGGC -3'

Posted On

2014-10-30