Mutagenetix > Incidental Mutation

Incidental Mutation 'R8386:Cyfip1'

647157

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

067752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8386 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55491556-55582381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55527488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 207 (S207P)

Ref Sequence

ENSEMBL: ENSMUSP00000032629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000085255] [ENSMUST00000163845] [ENSMUST00000173783] [ENSMUST00000206862]

AlphaFold

Q7TMB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032629
AA Change: S207P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: S207P

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 damaging
Transcript: ENSMUST00000085255
AA Change: S207P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: S207P

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 damaging
Transcript: ENSMUST00000163845
AA Change: S207P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: S207P

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 damaging
Transcript: ENSMUST00000173783
AA Change: S173P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134509
Gene: ENSMUSG00000030447
AA Change: S173P

Domain	Start	End	E-Value	Type
PDB:4N78\|A	1	230	1e-142	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000206862
AA Change: S177P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,021,518 (GRCm39)	A1064D	probably damaging	Het
Adgb	A	G	10: 10,226,048 (GRCm39)	I1390T	probably damaging	Het
Aktip	G	A	8: 91,857,674 (GRCm39)	R13C	probably benign	Het
Arnt2	T	A	7: 83,996,747 (GRCm39)	I71F	probably damaging	Het
Casr	T	A	16: 36,335,950 (GRCm39)	I120F	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cntnap1	A	T	11: 101,073,029 (GRCm39)	R544S	probably damaging	Het
Cse1l	T	C	2: 166,761,604 (GRCm39)	S53P	probably benign	Het
Fam120b	G	A	17: 15,643,246 (GRCm39)	S675N	probably benign	Het
Fcna	C	T	2: 25,516,027 (GRCm39)	W163*	probably null	Het
Gast	A	G	11: 100,227,691 (GRCm39)	D91G	probably damaging	Het
Igkv6-14	T	C	6: 70,411,966 (GRCm39)	Y106C	probably damaging	Het
Lin28b	A	G	10: 45,345,140 (GRCm39)	V62A	probably damaging	Het
Malrd1	T	A	2: 15,701,655 (GRCm39)	S757T	unknown	Het
Ms4a15	A	T	19: 10,970,546 (GRCm39)	C3S	unknown	Het
Muc5ac	G	A	7: 141,361,371 (GRCm39)	V1561I	possibly damaging	Het
Ndufb11b	C	T	15: 81,864,830 (GRCm39)	L24F	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5p70	TTTCTTCTTCT	TTTCTTCT	7: 107,994,555 (GRCm39)		probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Ppp1r3c	T	C	19: 36,711,338 (GRCm39)	D144G	probably damaging	Het
Setd1b	T	A	5: 123,282,319 (GRCm39)	V149D	unknown	Het
Shcbp1	A	C	8: 4,817,951 (GRCm39)	W115G	probably damaging	Het
Shroom1	A	T	11: 53,357,230 (GRCm39)	K631M	probably damaging	Het
Sipa1l2	A	T	8: 126,218,832 (GRCm39)	S168R	probably damaging	Het
Slc12a4	A	T	8: 106,678,250 (GRCm39)	N314K	probably damaging	Het
Syngap1	T	A	17: 27,179,465 (GRCm39)	M755K	possibly damaging	Het
Tnik	A	G	3: 28,317,823 (GRCm39)	D11G	unknown	Het
Trim80	A	G	11: 115,335,900 (GRCm39)	D274G	probably damaging	Het
Ush2a	A	G	1: 188,460,403 (GRCm39)	T2555A	possibly damaging	Het
Vps13a	A	T	19: 16,678,483 (GRCm39)		probably null	Het
Wnt7a	C	T	6: 91,343,270 (GRCm39)	G204D	probably damaging	Het
Zfp420	A	T	7: 29,575,043 (GRCm39)	Y421F	probably benign	Het
Zfp882	A	G	8: 72,667,962 (GRCm39)	H263R	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
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
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
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'- AGTCAAGGTCAGGGATGCTG -3'
(R):5'- AAATGACCTCAAGCTGCTGC -3'

Sequencing Primer
(F):5'- TGCTGCAAGAGGCTGAAACC -3'
(R):5'- TGCTGCTGCAGAGACTGG -3'

Posted On

2020-09-02