Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03128:Raver1'

410212

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Raver1

Ensembl Gene

ENSMUSG00000010205

Gene Name

ribonucleoprotein, PTB-binding 1

Synonyms

1300006N24Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

IGL03128

Quality Score

Status

Chromosome

Chromosomal Location

20985454-21003295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20992038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 385 (L385Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115487] [ENSMUST00000217359]

AlphaFold

Q9CW46

Predicted Effect

probably damaging
Transcript: ENSMUST00000115487
AA Change: L385Q

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

SMART Domains

Protein: ENSMUSP00000111150
Gene: ENSMUSG00000010205
AA Change: L385Q

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
RRM	60	126	1.53e-10	SMART
RRM	133	206	5.66e-14	SMART
RRM	222	295	1.15e-5	SMART
low complexity region	307	318	N/A	INTRINSIC
low complexity region	324	339	N/A	INTRINSIC
low complexity region	343	351	N/A	INTRINSIC
low complexity region	360	396	N/A	INTRINSIC
low complexity region	419	454	N/A	INTRINSIC
low complexity region	460	474	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	637	643	N/A	INTRINSIC
low complexity region	675	699	N/A	INTRINSIC
low complexity region	713	722	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000217282
AA Change: L125Q

Predicted Effect

probably damaging
Transcript: ENSMUST00000217359
AA Change: L385Q

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit reduced long term potentiation and depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,072,829 (GRCm39)	L114M	probably damaging	Het
Bahcc1	G	A	11: 120,159,260 (GRCm39)		probably benign	Het
Btrc	T	A	19: 45,501,959 (GRCm39)	I226N	probably damaging	Het
Cth	C	T	3: 157,626,672 (GRCm39)	G56D	probably damaging	Het
Dkk2	T	C	3: 131,883,621 (GRCm39)		probably benign	Het
Dock3	A	T	9: 106,909,491 (GRCm39)	M271K	probably benign	Het
Fam78b	T	A	1: 166,906,510 (GRCm39)	L223Q	probably damaging	Het
Fgl2	A	T	5: 21,578,291 (GRCm39)	M193L	probably benign	Het
Ifi205	A	T	1: 173,842,652 (GRCm39)	V348E	probably damaging	Het
Igkv4-70	T	A	6: 69,244,998 (GRCm39)	K74N	probably benign	Het
Kdm3b	A	T	18: 34,960,480 (GRCm39)	K1355M	probably damaging	Het
Ltn1	A	T	16: 87,212,832 (GRCm39)	N576K	probably benign	Het
Ms4a4c	A	T	19: 11,395,005 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,242,025 (GRCm39)	T328A	probably benign	Het
Npat	T	A	9: 53,461,333 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,230,798 (GRCm39)	I524V	probably benign	Het
Orc5	G	T	5: 22,721,771 (GRCm39)	D360E	probably damaging	Het
Pappa2	C	T	1: 158,764,054 (GRCm39)	E486K	probably benign	Het
Pde9a	C	T	17: 31,678,884 (GRCm39)	H216Y	possibly damaging	Het
Polr2k	C	A	15: 36,174,337 (GRCm39)	P31Q	probably damaging	Het
Prkdc	G	T	16: 15,518,608 (GRCm39)		probably benign	Het
Slc10a7	C	A	8: 79,251,846 (GRCm39)	T80K	probably damaging	Het
Smg1	T	C	7: 117,802,282 (GRCm39)	K272R	probably benign	Het
Supt20	A	G	3: 54,615,708 (GRCm39)	I200V	probably benign	Het
Tbc1d9	A	G	8: 83,892,714 (GRCm39)	N4S	probably benign	Het
Tor1aip1	A	G	1: 155,882,781 (GRCm39)	S356P	probably damaging	Het
Trpm3	A	G	19: 22,891,829 (GRCm39)	Y903C	probably damaging	Het
Vmn2r71	T	G	7: 85,268,795 (GRCm39)	F333V	probably damaging	Het

Other mutations in Raver1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Raver1	APN	9	20,990,536 (GRCm39)	missense	probably damaging	1.00
IGL02863:Raver1	APN	9	20,987,267 (GRCm39)	missense	probably damaging	0.98
R0265:Raver1	UTSW	9	20,986,955 (GRCm39)	missense	probably benign	0.43
R1017:Raver1	UTSW	9	20,990,886 (GRCm39)	splice site	probably benign
R3177:Raver1	UTSW	9	20,990,573 (GRCm39)	missense	possibly damaging	0.90
R3277:Raver1	UTSW	9	20,990,573 (GRCm39)	missense	possibly damaging	0.90
R4092:Raver1	UTSW	9	20,992,568 (GRCm39)	missense	probably damaging	0.99
R4463:Raver1	UTSW	9	21,003,123 (GRCm39)	missense	probably benign	0.01
R5302:Raver1	UTSW	9	20,986,677 (GRCm39)	missense	probably damaging	1.00
R5652:Raver1	UTSW	9	21,001,608 (GRCm39)	missense	probably damaging	0.98
R6021:Raver1	UTSW	9	20,987,918 (GRCm39)	missense	probably damaging	1.00
R7065:Raver1	UTSW	9	21,001,590 (GRCm39)	missense	probably benign	0.00
R7833:Raver1	UTSW	9	20,992,610 (GRCm39)	missense	probably benign	0.11
R8480:Raver1	UTSW	9	21,001,576 (GRCm39)	missense	probably benign	0.29
R9662:Raver1	UTSW	9	20,992,550 (GRCm39)	missense	probably benign	0.40

Posted On

2016-08-02