Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Fmr1'

74924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmr1

Ensembl Gene

ENSMUSG00000000838

Gene Name

fragile X messenger ribonucleoprotein 1

Synonyms

fragile X mental retardation 1, FMRP, Fmr-1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

67722147-67761569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67731901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000085906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088546] [ENSMUST00000114653] [ENSMUST00000114654] [ENSMUST00000114655] [ENSMUST00000114656] [ENSMUST00000114657]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088546
AA Change: D22G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085906
Gene: ENSMUSG00000000838
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	2.2e-11	PFAM
KH	217	283	2.02e-3	SMART
KH	284	421	1.84e-1	SMART
Pfam:FXR1P_C	426	576	2.3e-64	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114653
AA Change: D22G

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110301
Gene: ENSMUSG00000000838
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	9.7e-12	PFAM
KH	217	283	2.02e-3	SMART
KH	284	421	1.84e-1	SMART
Pfam:FXR1P_C	426	494	7.9e-32	PFAM
Pfam:FXR1P_C	487	551	2.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114654
AA Change: D22G

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110302
Gene: ENSMUSG00000000838
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	9.6e-12	PFAM
KH	217	283	2.02e-3	SMART
KH	284	400	1.31e-2	SMART
Pfam:FXR1P_C	405	473	7.8e-32	PFAM
Pfam:FXR1P_C	466	530	2.7e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114655
AA Change: D22G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110303
Gene: ENSMUSG00000000838
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:Agenet	4	55	5e-4	PFAM
Pfam:Agenet	62	120	4.8e-5	PFAM
KH	217	283	1.3e-5	SMART
KH	284	421	1.2e-3	SMART
low complexity region	491	503	N/A	INTRINSIC
Pfam:FXMR_C2	548	630	4.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114656
AA Change: D22G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110304
Gene: ENSMUSG00000000838
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	9.7e-12	PFAM
KH	217	283	2.02e-3	SMART
KH	284	398	1.21e1	SMART
Pfam:FXR1P_C	403	553	1.1e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114657
AA Change: D22G

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110305
Gene: ENSMUSG00000000838
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	9.8e-12	PFAM
KH	217	283	2.02e-3	SMART
KH	284	400	1.31e-2	SMART
Pfam:FXR1P_C	405	555	1.1e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148348

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Male mice hemizygous for a targeted null mutation exhibit macroorchidism associated with more rapid Sertoli cell proliferation, altered dendritic spines of visual cortex pyramidal cells and subtle differences in a variety of behavioral tests. Homozygous females show behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Cxcr4	T	C	1: 128,517,292 (GRCm39)	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fbxo28	T	C	1: 182,144,577 (GRCm39)	E329G	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Marco	C	T	1: 120,422,469 (GRCm39)		probably null	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Or8k40	T	A	2: 86,584,843 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc16a13	A	G	11: 70,111,340 (GRCm39)	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,052,247 (GRCm39)	S250P	possibly damaging	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	probably damaging	Het

Other mutations in Fmr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03338:Fmr1	APN	X	67,731,942 (GRCm39)	critical splice donor site	probably null

Posted On

2013-10-07