Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02930:Mex3a'

364052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mex3a

Ensembl Gene

ENSMUSG00000074480

Gene Name

mex3 RNA binding family member A

Synonyms

2700083E18Rik, Rkhd4

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

88532395-88541396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88536225 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 203 (I203L)

Ref Sequence

ENSEMBL: ENSMUSP00000134222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172699]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122779

Predicted Effect

probably benign
Transcript: ENSMUST00000172699
AA Change: I203L

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480
AA Change: I203L

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	37	51	N/A	INTRINSIC
low complexity region	53	110	N/A	INTRINSIC
KH	130	198	3.35e-9	SMART
KH	222	289	4.59e-16	SMART
low complexity region	406	415	N/A	INTRINSIC
RING	469	508	1.39e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,378,226	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,434,099	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,433,982	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,550,325	I478T	possibly damaging	Het
Cabs1	A	G	5: 87,979,886	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,825,494	E475G	probably damaging	Het
Cmtm2b	A	C	8: 104,329,770	M104L	probably benign	Het
Cops2	T	C	2: 125,832,189		probably benign	Het
Dnajc4	C	A	19: 6,989,433	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,483,240	N267D	probably damaging	Het
Elobl	T	G	11: 88,965,186	D17A	possibly damaging	Het
Erich6	G	A	3: 58,622,354		probably benign	Het
Flna	G	A	X: 74,223,900	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,310,990		probably benign	Het
Gpc1	G	T	1: 92,857,299	E355*	probably null	Het
Islr	C	T	9: 58,158,200		probably benign	Het
Olfr482	A	T	7: 108,095,414	I52N	probably damaging	Het
Olfr794	T	C	10: 129,571,315	I220T	probably damaging	Het
Olfr938	G	T	9: 39,078,012	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,373,474	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,359,052	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,149,774	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,123,217	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,417,161	T382A	possibly damaging	Het
Tbx21	A	G	11: 97,100,039	I271T	probably damaging	Het
Timeless	T	C	10: 128,247,191	V632A	probably benign	Het
Tle3	A	G	9: 61,394,699	N67S	possibly damaging	Het
Tln2	G	A	9: 67,393,662	R95*	probably null	Het
Trim24	A	G	6: 37,951,445		probably benign	Het
Uggt1	A	T	1: 36,157,456	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,036,594	K210R	probably benign	Het

Other mutations in Mex3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01581:Mex3a	APN	3	88536364	missense	probably damaging	1.00
IGL03000:Mex3a	APN	3	88536295	missense	probably damaging	1.00
IGL03357:Mex3a	APN	3	88536246	missense	probably benign	0.06
R0143:Mex3a	UTSW	3	88536255	missense	probably benign	0.04
R1109:Mex3a	UTSW	3	88536660	missense	possibly damaging	0.90
R1700:Mex3a	UTSW	3	88536375	missense	probably damaging	1.00
R2312:Mex3a	UTSW	3	88536478	missense	probably damaging	1.00
R5070:Mex3a	UTSW	3	88536387	missense	probably damaging	1.00
R6838:Mex3a	UTSW	3	88536777	missense	probably benign	0.04
R8006:Mex3a	UTSW	3	88537086	missense	probably damaging	1.00
R8111:Mex3a	UTSW	3	88536757	missense	probably benign	0.18
R8205:Mex3a	UTSW	3	88536852	missense	possibly damaging	0.47

Posted On

2015-12-18