Mutagenetix > Incidental Mutation

Incidental Mutation 'R8205:Mex3a'

635852

Institutional Source

Beutler Lab

Gene Symbol

Mex3a

Ensembl Gene

ENSMUSG00000074480

Gene Name

mex3 RNA binding family member A

Synonyms

2700083E18Rik, Rkhd4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R8205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88532395-88541396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88536852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 412 (S412P)

Ref Sequence

ENSEMBL: ENSMUSP00000134222 (fasta)

Gene Model

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

AlphaFold

G3UYU0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172699
AA Change: S412P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480
AA Change: S412P

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,624,966	D617G	probably benign	Het
Adam39	T	C	8: 40,825,043	V157A	probably benign	Het
Adamtsl1	A	G	4: 86,199,413	*204W	probably null	Het
Add2	A	G	6: 86,086,917	E66G	probably damaging	Het
Adgrd1	A	G	5: 129,115,111	T114A	possibly damaging	Het
Aldh7a1	A	T	18: 56,544,998	I247N	probably damaging	Het
Ankrd13d	A	T	19: 4,280,981	M166K	probably damaging	Het
Brd7	A	G	8: 88,343,615	F388L	probably damaging	Het
Cap2	G	A	13: 46,615,263	V182M	probably damaging	Het
Col22a1	A	T	15: 71,861,069	V1100E	unknown	Het
Crisp2	T	C	17: 40,785,078	E63G	possibly damaging	Het
Dst	T	G	1: 34,214,604	W2304G	probably damaging	Het
Eif2a	A	C	3: 58,548,735	N385T	probably damaging	Het
Eif4ebp2	A	T	10: 61,434,925	H108Q	probably benign	Het
Fam46c	A	G	3: 100,472,822	F206S	probably benign	Het
Fgd3	T	C	13: 49,296,347	D142G	probably benign	Het
Gbp8	T	A	5: 105,050,980	H23L	probably benign	Het
Glt1d1	A	G	5: 127,691,016	E229G	probably benign	Het
Gm428	G	A	4: 73,687,305	V318I	possibly damaging	Het
Gm4955	T	C	1: 173,481,884	E182G		Het
Gpatch8	T	C	11: 102,480,387	D775G	unknown	Het
Heatr1	T	C	13: 12,416,047	Y1008H	probably benign	Het
Heatr5a	T	A	12: 51,959,009	N61I	probably benign	Het
Hydin	A	T	8: 110,592,638	H4391L	possibly damaging	Het
Mbtps1	A	G	8: 119,520,338	S789P	probably damaging	Het
Mup2	T	A	4: 60,137,659	D128V	probably benign	Het
Ndufaf7	G	A	17: 78,947,032	C418Y	probably benign	Het
Nlrp4a	A	G	7: 26,450,794	S609G	probably benign	Het
Obscn	T	A	11: 59,007,871	Y6554F	unknown	Het
Odf2l	A	G	3: 145,150,734		probably benign	Het
Olfr108	T	C	17: 37,446,289	V245A	probably damaging	Het
Olfr113	A	T	17: 37,575,001	C141S	probably damaging	Het
Olfr1199	A	T	2: 88,756,672	M1K	probably null	Het
Plod2	G	T	9: 92,542,318		probably benign	Het
Ptgfr	A	G	3: 151,835,781	V30A	probably benign	Het
Pxdn	T	G	12: 30,006,567	L1259R	probably damaging	Het
Rnf6	A	G	5: 146,210,904	S435P	probably damaging	Het
Sacm1l	G	A	9: 123,586,659		probably null	Het
Scgb2b26	T	C	7: 33,944,408	T36A	probably benign	Het
Slc1a7	A	G	4: 108,008,311	N332S	probably benign	Het
Slfn5	T	C	11: 82,960,718	F614L	probably benign	Het
Smad7	C	A	18: 75,394,048	Q322K	probably damaging	Het
Smap1	T	C	1: 23,849,426	T253A	probably benign	Het
Socs5	G	T	17: 87,133,710	R26L	probably benign	Het
Steap4	A	T	5: 7,976,795	I253F	possibly damaging	Het
Tacc1	G	A	8: 25,182,787	H142Y	probably benign	Het
Tmem117	G	A	15: 95,094,798	M446I	probably benign	Het
Trav7-6	G	A	14: 53,717,093	D47N	probably benign	Het
Trim2	C	A	3: 84,193,339	A162S	probably damaging	Het
Ttc28	A	G	5: 111,225,730	I1011V	possibly damaging	Het
Vmn2r98	T	C	17: 19,081,163	V809A	probably damaging	Het
Wfikkn1	T	A	17: 25,878,097	T418S	probably benign	Het
Zbtb41	T	A	1: 139,429,181	D391E	possibly damaging	Het
Zfp109	G	A	7: 24,229,210	S266F	probably damaging	Het

Other mutations in Mex3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01581:Mex3a	APN	3	88536364	missense	probably damaging	1.00
IGL02930:Mex3a	APN	3	88536225	missense	probably benign	0.21
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
R9288:Mex3a	UTSW	3	88536151	missense	possibly damaging	0.95
R9386:Mex3a	UTSW	3	88536198	missense	possibly damaging	0.55
R9415:Mex3a	UTSW	3	88537173	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCACCTTCAGGCAGAACAG -3'
(R):5'- AAAAGGTTGTGTCCACAGGG -3'

Sequencing Primer
(F):5'- CGTGGACTCGGCCTTTGAG -3'
(R):5'- AGGGCTGCTGTCACTTCAC -3'

Posted On

2020-07-13