Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02588:Mex3c'

299610

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mex3c

Ensembl Gene

ENSMUSG00000037253

Gene Name

mex3 RNA binding family member C

Synonyms

Rkhd2, BM-013, A130001D14Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

73706115-73725646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73723116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 403 (N403S)

Ref Sequence

ENSEMBL: ENSMUSP00000089463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091852]

AlphaFold

Q05A36

Predicted Effect

probably damaging
Transcript: ENSMUST00000091852
AA Change: N403S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089463
Gene: ENSMUSG00000037253
AA Change: N403S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	58	84	N/A	INTRINSIC
coiled coil region	96	135	N/A	INTRINSIC
low complexity region	136	149	N/A	INTRINSIC
low complexity region	166	177	N/A	INTRINSIC
low complexity region	197	216	N/A	INTRINSIC
KH	223	291	5.53e-10	SMART
KH	318	385	2.98e-15	SMART
low complexity region	430	451	N/A	INTRINSIC
Blast:KH	496	532	8e-6	BLAST
low complexity region	574	591	N/A	INTRINSIC
RING	601	640	3.02e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozgyous for a gene trap allele exhibit strain dependent neonatal lethality and alveolar defects, growth retardation, and defects in long bone growth plate. Mice homozygous for a null allele display growth retardation and impaired cytokine production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,933,282 (GRCm39)	W258*	probably null	Het
Ankmy2	T	C	12: 36,226,685 (GRCm39)		probably benign	Het
Arhgap26	G	T	18: 38,734,670 (GRCm39)		probably benign	Het
Aspscr1	A	G	11: 120,568,357 (GRCm39)	D60G	possibly damaging	Het
Cdh15	C	A	8: 123,583,291 (GRCm39)	Y31*	probably null	Het
Cnih3	A	G	1: 181,237,269 (GRCm39)	R76G	probably benign	Het
Cplx1	C	A	5: 108,673,289 (GRCm39)	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,576,300 (GRCm39)	I597F	probably damaging	Het
Dnah17	G	T	11: 117,916,479 (GRCm39)	F4231L	possibly damaging	Het
Dst	T	G	1: 34,156,565 (GRCm39)	L173R	probably damaging	Het
Fezf2	A	T	14: 12,343,687 (GRCm38)	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,360,395 (GRCm39)	L247Q	probably damaging	Het
Gm10912	C	T	2: 103,897,197 (GRCm39)		probably benign	Het
Gpcpd1	A	T	2: 132,376,673 (GRCm39)	L541H	probably damaging	Het
Gpld1	C	T	13: 25,127,682 (GRCm39)	T28I	probably damaging	Het
Lmf2	A	T	15: 89,239,609 (GRCm39)		probably null	Het
Lratd2	T	C	15: 60,694,999 (GRCm39)	D249G	probably damaging	Het
Nlrp1b	A	T	11: 71,073,105 (GRCm39)	L246*	probably null	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Nlrp4c	A	T	7: 6,087,647 (GRCm39)	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843 (GRCm38)		noncoding transcript	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Nuggc	T	A	14: 65,855,226 (GRCm39)		probably benign	Het
Or4c122	T	C	2: 89,080,042 (GRCm39)		probably benign	Het
Or52d1	C	T	7: 103,756,260 (GRCm39)	T258I	possibly damaging	Het
Papolg	T	A	11: 23,840,252 (GRCm39)	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,955,003 (GRCm39)	Y759C	probably damaging	Het
Pdp2	A	G	8: 105,321,536 (GRCm39)	K462E	possibly damaging	Het
Plod1	A	T	4: 147,997,747 (GRCm39)	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,148,853 (GRCm39)	G25*	probably null	Het
Ptch1	T	C	13: 63,659,732 (GRCm39)	D1307G	probably benign	Het
Ranbp17	A	G	11: 33,167,361 (GRCm39)	V1034A	probably benign	Het
Rbl2	T	A	8: 91,813,712 (GRCm39)	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,693,255 (GRCm39)	T11A	probably benign	Het
Rfc3	A	T	5: 151,566,381 (GRCm39)	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,307,362 (GRCm39)	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,304,411 (GRCm39)	K157E	probably benign	Het
Slc22a17	A	G	14: 55,145,451 (GRCm39)	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,834,511 (GRCm39)		probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
St14	C	A	9: 31,001,329 (GRCm39)		probably benign	Het
Sympk	G	A	7: 18,776,550 (GRCm39)	V481M	probably benign	Het
Timeless	T	A	10: 128,079,203 (GRCm39)	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,337,729 (GRCm39)	I229V	probably benign	Het
Ugt3a1	A	T	15: 9,361,542 (GRCm39)	H106L	probably benign	Het
Zbtb45	A	T	7: 12,740,204 (GRCm39)	C470*	probably null	Het

Other mutations in Mex3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Mex3c	APN	18	73,722,960 (GRCm39)	missense	probably damaging	1.00
IGL01615:Mex3c	APN	18	73,706,703 (GRCm39)	missense	unknown
IGL01953:Mex3c	APN	18	73,723,104 (GRCm39)	missense	probably damaging	0.98
IGL02327:Mex3c	APN	18	73,723,781 (GRCm39)	missense	probably damaging	1.00
IGL02513:Mex3c	APN	18	73,723,360 (GRCm39)	missense	possibly damaging	0.50
R0013:Mex3c	UTSW	18	73,723,622 (GRCm39)	missense	probably benign	0.18
R0013:Mex3c	UTSW	18	73,723,622 (GRCm39)	missense	probably benign	0.18
R0532:Mex3c	UTSW	18	73,723,124 (GRCm39)	missense	possibly damaging	0.95
R1305:Mex3c	UTSW	18	73,723,306 (GRCm39)	missense	probably benign	0.39
R2075:Mex3c	UTSW	18	73,722,840 (GRCm39)	missense	probably benign	0.00
R2290:Mex3c	UTSW	18	73,723,764 (GRCm39)	missense	probably damaging	1.00
R2330:Mex3c	UTSW	18	73,706,799 (GRCm39)	missense	probably damaging	1.00
R5607:Mex3c	UTSW	18	73,723,014 (GRCm39)	missense	possibly damaging	0.96
R5608:Mex3c	UTSW	18	73,723,014 (GRCm39)	missense	possibly damaging	0.96
R6373:Mex3c	UTSW	18	73,723,065 (GRCm39)	missense	probably benign	0.28
R7719:Mex3c	UTSW	18	73,723,061 (GRCm39)	missense	possibly damaging	0.81
R8670:Mex3c	UTSW	18	73,722,776 (GRCm39)	frame shift	probably null
R8887:Mex3c	UTSW	18	73,706,800 (GRCm39)	missense	probably damaging	1.00
R9144:Mex3c	UTSW	18	73,723,397 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16