Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Mex3d'

578569

Institutional Source

Beutler Lab

Gene Symbol

Mex3d

Ensembl Gene

ENSMUSG00000048696

Gene Name

mex3 RNA binding family member D

Synonyms

Rkhd1

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R7463 (G1)

Quality Score

131.008

Status

Validated

Chromosome

Chromosomal Location

80216189-80223485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80217532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 562 (G562R)

Ref Sequence

ENSEMBL: ENSMUSP00000100987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105350]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000100987
Gene: ENSMUSG00000048696
AA Change: G562R

Domain	Start	End	E-Value	Type
internal_repeat_2	3	25	3.12e-8	PROSPERO
internal_repeat_1	5	34	7.48e-13	PROSPERO
internal_repeat_1	41	70	7.48e-13	PROSPERO
internal_repeat_2	51	73	3.12e-8	PROSPERO
low complexity region	78	94	N/A	INTRINSIC
KH	125	193	6.8e-10	SMART
KH	220	287	4.45e-14	SMART
low complexity region	356	388	N/A	INTRINSIC
low complexity region	463	478	N/A	INTRINSIC
low complexity region	499	524	N/A	INTRINSIC
low complexity region	535	557	N/A	INTRINSIC
RING	560	599	7.34e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123141
AA Change: G97R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115410
Gene: ENSMUSG00000048696
AA Change: G97R

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
low complexity region	106	121	N/A	INTRINSIC
low complexity region	142	167	N/A	INTRINSIC
low complexity region	178	200	N/A	INTRINSIC
RING	203	242	7.34e-3	SMART

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,698 (GRCm39)	V435E	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy2	T	C	13: 68,878,399 (GRCm39)	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,310,140 (GRCm39)	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,583,452 (GRCm39)	Q309*	probably null	Het
Amy1	A	T	3: 113,363,533 (GRCm39)	C43*	probably null	Het
Bpifc	T	C	10: 85,815,198 (GRCm39)	E256G	probably benign	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Carmil3	C	T	14: 55,739,853 (GRCm39)	P980L	probably damaging	Het
Coch	T	A	12: 51,640,408 (GRCm39)	M1K	probably null	Het
Cpt2	A	T	4: 107,765,354 (GRCm39)	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094 (GRCm39)	I112V	probably benign	Het
Cul9	A	G	17: 46,831,402 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,650,374 (GRCm39)	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,769,761 (GRCm39)	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,540,026 (GRCm39)	E318G	probably damaging	Het
Dip2b	A	G	15: 100,052,038 (GRCm39)	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316 (GRCm39)	H238R	probably damaging	Het
Dnai2	A	C	11: 114,645,232 (GRCm39)	I556L	probably benign	Het
Dnmt1	C	T	9: 20,823,521 (GRCm39)	V1147M	possibly damaging	Het
Egf	G	T	3: 129,533,664 (GRCm39)	Q59K	probably benign	Het
Ermp1	A	T	19: 29,623,662 (GRCm39)	Y109*	probably null	Het
Fer1l6	T	A	15: 58,445,450 (GRCm39)	Y573*	probably null	Het
Fmnl1	T	C	11: 103,083,954 (GRCm39)	L503P	probably damaging	Het
Gnptab	T	G	10: 88,267,251 (GRCm39)	I447M	probably damaging	Het
Hgf	G	A	5: 16,783,448 (GRCm39)	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Igf2r	T	C	17: 12,929,532 (GRCm39)	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,497 (GRCm39)	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,079,593 (GRCm39)	V248A	probably damaging	Het
Krt33b	A	G	11: 99,920,389 (GRCm39)	I88T	probably damaging	Het
Lhx2	G	A	2: 38,241,858 (GRCm39)	E25K	possibly damaging	Het
Myom2	A	T	8: 15,167,679 (GRCm39)	Y1088F	probably null	Het
Ncapg	T	A	5: 45,851,434 (GRCm39)		probably null	Het
Nudc	A	C	4: 133,261,714 (GRCm39)	V190G	possibly damaging	Het
Obscn	G	T	11: 59,013,686 (GRCm39)	R1054S	probably benign	Het
Or10g1	A	G	14: 52,648,168 (GRCm39)	W54R	probably benign	Het
Or10g9	A	G	9: 39,911,860 (GRCm39)	V221A	probably benign	Het
Or2d4	A	T	7: 106,543,380 (GRCm39)	V276E	probably damaging	Het
Or52h9	T	C	7: 104,202,689 (GRCm39)	S188P	possibly damaging	Het
Or56a5	T	A	7: 104,793,144 (GRCm39)	M119L	probably benign	Het
Or8j3	T	C	2: 86,028,182 (GRCm39)	M305V	probably benign	Het
Pcdh10	A	T	3: 45,338,007 (GRCm39)	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,467,602 (GRCm39)	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,878,340 (GRCm39)	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,896,480 (GRCm39)	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,339,072 (GRCm39)		probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,540,839 (GRCm39)	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,319,404 (GRCm39)	H941R	probably benign	Het
Reln	T	C	5: 22,308,433 (GRCm39)	H312R	probably damaging	Het
Rnf166	T	A	8: 123,194,726 (GRCm39)	H208L	probably damaging	Het
Spmap2	T	C	10: 79,412,549 (GRCm39)	E314G	probably damaging	Het
Timeless	T	C	10: 128,086,295 (GRCm39)	S999P	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 155,883,355 (GRCm39)	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,750,804 (GRCm39)	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,896,886 (GRCm39)	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,208,810 (GRCm39)	D427V	probably damaging	Het
Zer1	A	T	2: 30,003,449 (GRCm39)		probably benign	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Mex3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Mex3d	APN	10	80,217,869 (GRCm39)	missense	possibly damaging	0.49
R0316:Mex3d	UTSW	10	80,217,505 (GRCm39)	missense	probably damaging	0.97
R0401:Mex3d	UTSW	10	80,222,728 (GRCm39)	missense	probably benign	0.33
R0734:Mex3d	UTSW	10	80,217,366 (GRCm39)	missense	possibly damaging	0.55
R0894:Mex3d	UTSW	10	80,217,376 (GRCm39)	missense	probably benign	0.04
R1452:Mex3d	UTSW	10	80,217,354 (GRCm39)	missense	probably damaging	0.99
R1764:Mex3d	UTSW	10	80,222,770 (GRCm39)	missense	probably benign	0.15
R1795:Mex3d	UTSW	10	80,217,376 (GRCm39)	missense	probably benign	0.04
R4801:Mex3d	UTSW	10	80,222,788 (GRCm39)	missense	possibly damaging	0.77
R4802:Mex3d	UTSW	10	80,222,788 (GRCm39)	missense	possibly damaging	0.77
R5632:Mex3d	UTSW	10	80,218,428 (GRCm39)	missense	probably damaging	1.00
R5701:Mex3d	UTSW	10	80,217,379 (GRCm39)	missense	probably benign	0.00
R5964:Mex3d	UTSW	10	80,218,421 (GRCm39)	missense	probably damaging	1.00
R6133:Mex3d	UTSW	10	80,222,620 (GRCm39)	missense	probably damaging	0.99
R6414:Mex3d	UTSW	10	80,217,205 (GRCm39)	missense	unknown
R6938:Mex3d	UTSW	10	80,218,074 (GRCm39)	missense	possibly damaging	0.61
R7154:Mex3d	UTSW	10	80,222,584 (GRCm39)	missense
R7241:Mex3d	UTSW	10	80,223,091 (GRCm39)	missense
R8858:Mex3d	UTSW	10	80,217,217 (GRCm39)	missense	unknown
R9359:Mex3d	UTSW	10	80,217,581 (GRCm39)	missense
R9583:Mex3d	UTSW	10	80,218,129 (GRCm39)	missense
Z1176:Mex3d	UTSW	10	80,222,547 (GRCm39)	missense
Z1177:Mex3d	UTSW	10	80,217,184 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCCTCACCTTCAGAACAC -3'
(R):5'- CCAGAGGACTGTGACTTTGG -3'

Sequencing Primer
(F):5'- CTTCCGAGGGGACAGTGTCTAG -3'
(R):5'- GTTTTGACTTCCTGGCGCTAGAC -3'

Posted On

2019-10-07