Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Mex3d'

487244

Institutional Source

Beutler Lab

Gene Symbol

Mex3d

Ensembl Gene

ENSMUSG00000048696

Gene Name

mex3 RNA binding family member D

Synonyms

Rkhd1

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R6133 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

80380355-80387659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80386786 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 212 (L212P)

Ref Sequence

ENSEMBL: ENSMUSP00000100987 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062946
AA Change: L212P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057962
Gene: ENSMUSG00000048696
AA Change: L212P

Domain	Start	End	E-Value	Type
low complexity region	5	27	N/A	INTRINSIC
low complexity region	30	65	N/A	INTRINSIC
internal_repeat_1	88	132	4.63e-12	PROSPERO
internal_repeat_1	130	174	4.63e-12	PROSPERO
low complexity region	185	201	N/A	INTRINSIC
KH	232	300	6.8e-10	SMART
KH	327	394	4.45e-14	SMART
low complexity region	463	495	N/A	INTRINSIC
low complexity region	570	585	N/A	INTRINSIC
low complexity region	606	631	N/A	INTRINSIC
low complexity region	642	664	N/A	INTRINSIC
RING	667	706	7.34e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105350
AA Change: L212P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100987
Gene: ENSMUSG00000048696
AA Change: L212P

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

noncoding transcript
Transcript: ENSMUST00000122709

Predicted Effect

probably benign
Transcript: ENSMUST00000123141

SMART Domains

Protein: ENSMUSP00000115410
Gene: ENSMUSG00000048696

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Mex3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Mex3d	APN	10	80382035	missense	possibly damaging	0.49
R0316:Mex3d	UTSW	10	80381671	missense	probably damaging	0.97
R0401:Mex3d	UTSW	10	80386894	missense	probably benign	0.33
R0734:Mex3d	UTSW	10	80381532	missense	possibly damaging	0.55
R0894:Mex3d	UTSW	10	80381542	missense	probably benign	0.04
R1452:Mex3d	UTSW	10	80381520	missense	probably damaging	0.99
R1764:Mex3d	UTSW	10	80386936	missense	probably benign	0.15
R1795:Mex3d	UTSW	10	80381542	missense	probably benign	0.04
R4801:Mex3d	UTSW	10	80386954	missense	possibly damaging	0.77
R4802:Mex3d	UTSW	10	80386954	missense	possibly damaging	0.77
R5632:Mex3d	UTSW	10	80382594	missense	probably damaging	1.00
R5701:Mex3d	UTSW	10	80381545	missense	probably benign	0.00
R5964:Mex3d	UTSW	10	80382587	missense	probably damaging	1.00
R6414:Mex3d	UTSW	10	80381371	missense	unknown
R6938:Mex3d	UTSW	10	80382240	missense	possibly damaging	0.61
R7154:Mex3d	UTSW	10	80386750	missense
R7241:Mex3d	UTSW	10	80387257	missense
R7463:Mex3d	UTSW	10	80381698	missense
Z1176:Mex3d	UTSW	10	80386713	missense
Z1177:Mex3d	UTSW	10	80381350	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTATCCAGGAGAATAAGCGCGC -3'
(R):5'- TGACTTGTGCACCCTCGATG -3'

Sequencing Primer
(F):5'- AGAATAAGCGCGCCCCTG -3'
(R):5'- TCGGTGACTTGTGCACC -3'

Posted On

2017-10-10