Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03199:Cyfip2'

412933

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyfip2

Ensembl Gene

ENSMUSG00000020340

Gene Name

cytoplasmic FMR1 interacting protein 2

Synonyms

6430511D02Rik, Pir121, 1500004I01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03199

Quality Score

Status

Chromosome

Chromosomal Location

46084677-46203686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46167670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 244 (I244T)

Ref Sequence

ENSEMBL: ENSMUSP00000127586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]

AlphaFold

Q5SQX6

Predicted Effect

probably benign
Transcript: ENSMUST00000093165
AA Change: I244T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340
AA Change: I244T

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:DUF1394	59	303	5.4e-12	PFAM
Pfam:FragX_IP	388	1221	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093166
AA Change: I244T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340
AA Change: I244T

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165599
AA Change: I244T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340
AA Change: I244T

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for knock-out allele exhibit complete neonatal lethality. Mice homozygous for a dominant spontaneous mutation exhibit impaired behavioral response to cocaine, fewer dendritic spines and reduced miniature excitatory postsynaptic current frequency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,556 (GRCm39)	I151T	possibly damaging	Het
Alms1	T	A	6: 85,599,479 (GRCm39)	M1904K	possibly damaging	Het
Chsy3	T	A	18: 59,309,473 (GRCm39)	F242Y	probably damaging	Het
Cwf19l2	G	A	9: 3,477,830 (GRCm39)	G845D	probably damaging	Het
Dnah10	A	T	5: 124,894,761 (GRCm39)	Q3499L	probably benign	Het
Fat3	A	G	9: 16,288,344 (GRCm39)	V393A	possibly damaging	Het
Fcamr	T	A	1: 130,740,655 (GRCm39)	V358D	probably damaging	Het
Fndc3c1	T	A	X: 105,479,993 (GRCm39)	K696N	possibly damaging	Het
Igkv2-112	G	A	6: 68,197,000 (GRCm39)	M12I	probably benign	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Map4k1	A	G	7: 28,682,842 (GRCm39)	E16G	probably damaging	Het
Myl7	C	T	11: 5,848,205 (GRCm39)	G50R	probably damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Or10d4b	A	G	9: 39,535,240 (GRCm39)	I272V	probably benign	Het
Prkcz	A	G	4: 155,357,441 (GRCm39)	F157L	possibly damaging	Het
Sult2a1	C	A	7: 13,566,585 (GRCm39)	G130V	probably damaging	Het
Trim27	G	A	13: 21,375,421 (GRCm39)		probably null	Het
Trim43b	T	G	9: 88,971,481 (GRCm39)	Q225P	probably damaging	Het
Ugt2b34	A	G	5: 87,054,739 (GRCm39)	L14P	unknown	Het
Vmn1r209	A	T	13: 22,990,220 (GRCm39)	S157T	possibly damaging	Het
Vmn2r38	A	T	7: 9,078,375 (GRCm39)	V669D	probably damaging	Het
Vps35l	T	C	7: 118,365,611 (GRCm39)	S15P	probably benign	Het
Zfp422	T	C	6: 116,603,912 (GRCm39)	Q29R	probably benign	Het
Zfp623	C	T	15: 75,819,119 (GRCm39)	A25V	probably benign	Het

Other mutations in Cyfip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Cyfip2	APN	11	46,091,512 (GRCm39)	missense	possibly damaging	0.74
IGL01352:Cyfip2	APN	11	46,156,823 (GRCm39)	missense	probably benign	0.01
IGL01685:Cyfip2	APN	11	46,098,315 (GRCm39)	splice site	probably benign
IGL02367:Cyfip2	APN	11	46,167,732 (GRCm39)	nonsense	probably null
IGL02390:Cyfip2	APN	11	46,112,225 (GRCm39)	missense	possibly damaging	0.58
IGL02471:Cyfip2	APN	11	46,091,630 (GRCm39)	missense	possibly damaging	0.58
IGL02583:Cyfip2	APN	11	46,140,585 (GRCm39)	missense	possibly damaging	0.56
aggregate	UTSW	11	46,114,963 (GRCm39)	missense	probably benign
assunder	UTSW	11	46,087,135 (GRCm39)	missense	probably benign	0.00
fragmentary	UTSW	11	46,089,823 (GRCm39)	missense	probably benign	0.01
IGL02835:Cyfip2	UTSW	11	46,140,598 (GRCm39)	missense	probably benign	0.00
R0081:Cyfip2	UTSW	11	46,144,825 (GRCm39)	nonsense	probably null
R0288:Cyfip2	UTSW	11	46,144,799 (GRCm39)	missense	possibly damaging	0.94
R1830:Cyfip2	UTSW	11	46,089,846 (GRCm39)	missense	probably damaging	1.00
R1869:Cyfip2	UTSW	11	46,114,995 (GRCm39)	missense	probably benign	0.40
R1989:Cyfip2	UTSW	11	46,144,825 (GRCm39)	nonsense	probably null
R2045:Cyfip2	UTSW	11	46,140,616 (GRCm39)	missense	probably benign	0.00
R2101:Cyfip2	UTSW	11	46,133,270 (GRCm39)	missense	probably damaging	1.00
R2131:Cyfip2	UTSW	11	46,176,958 (GRCm39)	missense	possibly damaging	0.78
R2162:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R2299:Cyfip2	UTSW	11	46,176,958 (GRCm39)	missense	probably benign	0.02
R3831:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R3832:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R3833:Cyfip2	UTSW	11	46,152,333 (GRCm39)	missense	probably benign	0.03
R3881:Cyfip2	UTSW	11	46,099,162 (GRCm39)	missense	probably damaging	1.00
R4127:Cyfip2	UTSW	11	46,161,474 (GRCm39)	missense	probably benign	0.00
R4385:Cyfip2	UTSW	11	46,133,230 (GRCm39)	missense	probably benign	0.05
R4617:Cyfip2	UTSW	11	46,144,845 (GRCm39)	missense	probably damaging	1.00
R4739:Cyfip2	UTSW	11	46,170,820 (GRCm39)	missense	probably damaging	0.99
R5232:Cyfip2	UTSW	11	46,133,205 (GRCm39)	missense	probably damaging	1.00
R5365:Cyfip2	UTSW	11	46,138,457 (GRCm39)	missense	probably damaging	0.99
R5383:Cyfip2	UTSW	11	46,168,918 (GRCm39)	missense	possibly damaging	0.83
R5447:Cyfip2	UTSW	11	46,182,413 (GRCm39)	missense	possibly damaging	0.72
R5450:Cyfip2	UTSW	11	46,175,079 (GRCm39)	missense	probably benign	0.00
R5796:Cyfip2	UTSW	11	46,089,823 (GRCm39)	missense	probably benign	0.01
R5820:Cyfip2	UTSW	11	46,091,531 (GRCm39)	missense	probably damaging	1.00
R5925:Cyfip2	UTSW	11	46,098,263 (GRCm39)	missense	probably damaging	1.00
R6143:Cyfip2	UTSW	11	46,144,792 (GRCm39)	nonsense	probably null
R6321:Cyfip2	UTSW	11	46,182,347 (GRCm39)	missense	probably benign	0.01
R6502:Cyfip2	UTSW	11	46,112,173 (GRCm39)	missense	probably damaging	1.00
R6511:Cyfip2	UTSW	11	46,087,135 (GRCm39)	missense	probably benign	0.00
R6521:Cyfip2	UTSW	11	46,145,415 (GRCm39)	missense	probably damaging	1.00
R6660:Cyfip2	UTSW	11	46,140,634 (GRCm39)	missense	possibly damaging	0.89
R6836:Cyfip2	UTSW	11	46,163,467 (GRCm39)	missense	probably benign	0.16
R6866:Cyfip2	UTSW	11	46,133,286 (GRCm39)	nonsense	probably null
R7062:Cyfip2	UTSW	11	46,151,659 (GRCm39)	missense	probably damaging	1.00
R7192:Cyfip2	UTSW	11	46,145,493 (GRCm39)	missense	probably benign	0.21
R7231:Cyfip2	UTSW	11	46,114,963 (GRCm39)	missense	probably benign
R7258:Cyfip2	UTSW	11	46,115,004 (GRCm39)	missense	probably benign	0.02
R7365:Cyfip2	UTSW	11	46,098,267 (GRCm39)	nonsense	probably null
R7441:Cyfip2	UTSW	11	46,087,254 (GRCm39)	missense	possibly damaging	0.80
R7561:Cyfip2	UTSW	11	46,161,425 (GRCm39)	missense	probably benign	0.00
R7831:Cyfip2	UTSW	11	46,087,273 (GRCm39)	missense	probably damaging	1.00
R7871:Cyfip2	UTSW	11	46,133,177 (GRCm39)	missense	probably damaging	1.00
R8794:Cyfip2	UTSW	11	46,144,800 (GRCm39)	missense	possibly damaging	0.91
R9180:Cyfip2	UTSW	11	46,176,920 (GRCm39)	missense	probably damaging	1.00
R9195:Cyfip2	UTSW	11	46,161,455 (GRCm39)	missense	probably damaging	1.00
R9312:Cyfip2	UTSW	11	46,167,709 (GRCm39)	missense	possibly damaging	0.95
R9439:Cyfip2	UTSW	11	46,091,668 (GRCm39)	missense	probably damaging	0.99
R9563:Cyfip2	UTSW	11	46,151,707 (GRCm39)	missense	probably benign	0.12
R9722:Cyfip2	UTSW	11	46,087,135 (GRCm39)	missense	probably benign	0.00
Z1176:Cyfip2	UTSW	11	46,113,442 (GRCm39)	missense	not run
Z1177:Cyfip2	UTSW	11	46,113,442 (GRCm39)	missense	not run

Posted On

2016-08-02