Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Cyfip1'

215172

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

039947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55491556-55582381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55549705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 624 (R624L)

Ref Sequence

ENSEMBL: ENSMUSP00000127717 (fasta)

Gene Model

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

AlphaFold

Q7TMB8

Predicted Effect

probably null
Transcript: ENSMUST00000032629
AA Change: R624L

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

SMART Domains

Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
AA Change: R624L

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 null
Transcript: ENSMUST00000085255
AA Change: R622L

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

SMART Domains

Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
AA Change: R622L

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: R624L

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

SMART Domains

Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
AA Change: R624L

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

noncoding transcript
Transcript: ENSMUST00000174660

Predicted Effect

probably null
Transcript: ENSMUST00000206862
AA Change: R594L

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

Meta Mutation Damage Score

0.9752

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,376,860 (GRCm39)		probably null	Het
Angel1	A	C	12: 86,749,093 (GRCm39)	L656V	probably damaging	Het
Ankrd12	G	A	17: 66,293,681 (GRCm39)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,464,958 (GRCm39)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,496,359 (GRCm39)		silent	Het
Btc	T	C	5: 91,510,260 (GRCm39)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 126,793,050 (GRCm39)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,208,451 (GRCm39)	T216A	probably benign	Het
Cdk17	T	C	10: 93,064,540 (GRCm39)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,416,059 (GRCm39)	E230G	probably benign	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyp27b1	T	A	10: 126,884,181 (GRCm39)	V11D	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,867,224 (GRCm39)	S2785G	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,754,059 (GRCm39)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,777,163 (GRCm39)		probably benign	Het
Elac2	T	A	11: 64,870,015 (GRCm39)	S27T	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgd6	T	C	10: 93,880,868 (GRCm39)	V574A	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Focad	A	G	4: 88,260,449 (GRCm39)	N902D	unknown	Het
Focad	A	G	4: 88,315,416 (GRCm39)	S1525G	probably benign	Het
Fras1	T	C	5: 96,815,296 (GRCm39)	W1338R	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10076	T	G	14: 105,919,304 (GRCm39)		noncoding transcript	Het
Gm5698	T	G	1: 31,017,042 (GRCm39)	D3A	probably damaging	Het
Gngt2	C	T	11: 95,735,972 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,562,193 (GRCm39)		probably null	Het
Gtf2h3	A	T	5: 124,740,262 (GRCm39)		probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk16	A	G	14: 20,315,347 (GRCm39)	V72A	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matr3	T	A	18: 35,721,378 (GRCm39)		probably benign	Het
Med13l	T	G	5: 118,866,898 (GRCm39)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,764,740 (GRCm39)	V388A	probably benign	Het
Mki67	C	T	7: 135,299,794 (GRCm39)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1e1c	T	A	11: 73,266,427 (GRCm39)	V287E	probably damaging	Het
Or4a15	A	G	2: 89,193,353 (GRCm39)	V140A	probably benign	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,206,859 (GRCm39)	E523G	probably damaging	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pigr	G	A	1: 130,774,399 (GRCm39)		probably benign	Het
Pkd1l1	A	T	11: 8,786,197 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Rgs3	A	G	4: 62,620,384 (GRCm39)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 70,033,893 (GRCm39)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,190,956 (GRCm39)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Samd3	A	G	10: 26,139,884 (GRCm39)		probably benign	Het
Sec61a2	A	G	2: 5,878,547 (GRCm39)		probably benign	Het
Serpina3m	G	A	12: 104,355,581 (GRCm39)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Sez6	C	T	11: 77,863,758 (GRCm39)	T439I	probably damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Spg11	C	T	2: 121,890,688 (GRCm39)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Suclg2	T	C	6: 95,566,075 (GRCm39)		probably benign	Het
Tlr4	A	T	4: 66,757,681 (GRCm39)	H158L	probably damaging	Het
Tmem131	A	G	1: 36,851,352 (GRCm39)	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,115,635 (GRCm39)	I265N	probably damaging	Het
Trim58	T	A	11: 58,531,493 (GRCm39)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,172,650 (GRCm39)	Q74R	probably benign	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,487,124 (GRCm39)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp451	A	G	1: 33,821,274 (GRCm39)	F151L	probably damaging	Het
Zfp451	G	A	1: 33,822,937 (GRCm39)	P99S	probably benign	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,819,748 (GRCm39)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GCATACCCGTGTTCGTCTTG -3'
(R):5'- CTGAATGAATGTGTGAAGGTACATG -3'

Sequencing Primer
(F):5'- CTCATGTGAAGTGTCCAGTGACC -3'
(R):5'- AATGTGTGAAGGTACATGCATGTG -3'

Posted On

2014-07-14