Mutagenetix > Incidental Mutation

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

Rkhd4, 2700083E18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

88439702-88448703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88443532 bp (GRCm39)

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]

AlphaFold

G3UYU0

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: 9,328,226 (GRCm39)	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,480,756 (GRCm39)	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,392,245 (GRCm39)	I478T	possibly damaging	Het
Cabs1	A	G	5: 88,127,745 (GRCm39)	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,879,643 (GRCm39)	E475G	probably damaging	Het
Cmtm2b	A	C	8: 105,056,402 (GRCm39)	M104L	probably benign	Het
Cops2	T	C	2: 125,674,109 (GRCm39)		probably benign	Het
Dnajc4	C	A	19: 6,966,801 (GRCm39)	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,394,536 (GRCm39)	N267D	probably damaging	Het
Elobl	T	G	11: 88,856,012 (GRCm39)	D17A	possibly damaging	Het
Erich6	G	A	3: 58,529,775 (GRCm39)		probably benign	Het
Flna	G	A	X: 73,267,506 (GRCm39)	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,548,439 (GRCm39)		probably benign	Het
Gpc1	G	T	1: 92,785,021 (GRCm39)	E355*	probably null	Het
Islr	C	T	9: 58,065,483 (GRCm39)		probably benign	Het
Or5p58	A	T	7: 107,694,621 (GRCm39)	I52N	probably damaging	Het
Or6c88	T	C	10: 129,407,184 (GRCm39)	I220T	probably damaging	Het
Or8g24	G	T	9: 38,989,308 (GRCm39)	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,215,394 (GRCm39)	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,304,778 (GRCm39)	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,196,548 (GRCm39)	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376 (GRCm39)	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,280,559 (GRCm39)	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,367,161 (GRCm39)	T382A	possibly damaging	Het
Tbx21	A	G	11: 96,990,865 (GRCm39)	I271T	probably damaging	Het
Timeless	T	C	10: 128,083,060 (GRCm39)	V632A	probably benign	Het
Tle3	A	G	9: 61,301,981 (GRCm39)	N67S	possibly damaging	Het
Tln2	G	A	9: 67,300,944 (GRCm39)	R95*	probably null	Het
Trim24	A	G	6: 37,928,380 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,196,537 (GRCm39)	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,013,579 (GRCm39)	K210R	probably benign	Het

Other mutations in Mex3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01581:Mex3a	APN	3	88,443,671 (GRCm39)	missense	probably damaging	1.00
IGL03000:Mex3a	APN	3	88,443,602 (GRCm39)	missense	probably damaging	1.00
IGL03357:Mex3a	APN	3	88,443,553 (GRCm39)	missense	probably benign	0.06
R0143:Mex3a	UTSW	3	88,443,562 (GRCm39)	missense	probably benign	0.04
R1109:Mex3a	UTSW	3	88,443,967 (GRCm39)	missense	possibly damaging	0.90
R1700:Mex3a	UTSW	3	88,443,682 (GRCm39)	missense	probably damaging	1.00
R2312:Mex3a	UTSW	3	88,443,785 (GRCm39)	missense	probably damaging	1.00
R5070:Mex3a	UTSW	3	88,443,694 (GRCm39)	missense	probably damaging	1.00
R6838:Mex3a	UTSW	3	88,444,084 (GRCm39)	missense	probably benign	0.04
R8006:Mex3a	UTSW	3	88,444,393 (GRCm39)	missense	probably damaging	1.00
R8111:Mex3a	UTSW	3	88,444,064 (GRCm39)	missense	probably benign	0.18
R8205:Mex3a	UTSW	3	88,444,159 (GRCm39)	missense	possibly damaging	0.47
R9288:Mex3a	UTSW	3	88,443,458 (GRCm39)	missense	possibly damaging	0.95
R9386:Mex3a	UTSW	3	88,443,505 (GRCm39)	missense	possibly damaging	0.55
R9415:Mex3a	UTSW	3	88,444,480 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18