Mutagenetix > Incidental Mutations

Incidental Mutation 'R6414:Mex3d'

514871

Institutional Source

Beutler Lab

Gene Symbol

Mex3d

Ensembl Gene

ENSMUSG00000048696

Gene Name

mex3 RNA binding family member D

Synonyms

Rkhd1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80380355-80387659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80381371 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 671 (S671P)

Ref Sequence

ENSEMBL: ENSMUSP00000100987 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000105350
AA Change: S671P

SMART Domains

Protein: ENSMUSP00000100987
Gene: ENSMUSG00000048696
AA Change: S671P

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

unknown
Transcript: ENSMUST00000123141
AA Change: S206P

SMART Domains

Protein: ENSMUSP00000115410
Gene: ENSMUSG00000048696
AA Change: S206P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218129

Coding Region Coverage

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

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,884,336	V367A	probably benign	Het
Alpk1	T	C	3: 127,680,209	D715G	probably benign	Het
Atg101	T	A	15: 101,290,460	C149S	probably benign	Het
Atp2c1	A	T	9: 105,466,656	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,976,131	A360E	probably damaging	Het
Chd3	A	T	11: 69,352,545		probably null	Het
Clcc1	G	A	3: 108,676,851	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,892,266		probably null	Het
Ctnna3	T	C	10: 64,260,865	V394A	probably benign	Het
Ctsll3	A	G	13: 60,800,299	F188S	probably damaging	Het
Cyth4	T	C	15: 78,608,146	V125A	probably damaging	Het
Ddx43	G	A	9: 78,400,936	V131I	probably benign	Het
Elp4	A	G	2: 105,904,443	S16P	possibly damaging	Het
Espl1	T	A	15: 102,315,560	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,090,878	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,920,445	V350D	probably damaging	Het
Frem1	A	G	4: 82,940,536	F1545S	probably damaging	Het
Gata3	T	A	2: 9,858,434	H423L	possibly damaging	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Golt1a	A	T	1: 133,320,294	M87L	probably damaging	Het
Gpr171	A	T	3: 59,098,123	V77E	probably damaging	Het
Hectd2	A	G	19: 36,618,786	D757G	probably benign	Het
Hmmr	A	G	11: 40,715,867		probably null	Het
Il31ra	A	G	13: 112,523,907	V635A	possibly damaging	Het
Lama1	T	C	17: 67,746,910		probably null	Het
Ltbp4	G	A	7: 27,310,715	P1140L	probably damaging	Het
Macf1	A	G	4: 123,493,195	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,108,831	M1L	probably benign	Het
Mrgprb2	C	T	7: 48,552,381	V199I	probably benign	Het
Mroh9	A	T	1: 163,074,702	V114E	probably damaging	Het
Muc5b	A	G	7: 141,859,097	K1927E	unknown	Het
Olfr1275	A	C	2: 111,231,152		probably null	Het
Olfr781	T	A	10: 129,333,709	I276K	probably benign	Het
Otogl	C	T	10: 107,782,050	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh15	T	A	10: 74,185,426	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,413,845	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 100,255,540	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,100,180		probably benign	Het
Rap1gap2	A	G	11: 74,405,790	L457P	probably damaging	Het
Rasef	C	T	4: 73,740,581	V463M	probably benign	Het
Rb1	T	C	14: 73,282,974	S42G	unknown	Het
Reep3	C	A	10: 67,039,577	V36F	probably damaging	Het
Rhcg	A	G	7: 79,598,968		probably null	Het
Sbno1	T	C	5: 124,395,931	S661G	probably benign	Het
Slc25a3	T	G	10: 91,122,328	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,343,805	I395F	probably benign	Het
Slc6a5	C	T	7: 49,910,243		probably benign	Het
Snta1	G	C	2: 154,378,067	T391S	possibly damaging	Het
Spata7	T	C	12: 98,663,220		probably null	Het
Stx17	A	G	4: 48,158,809		probably null	Het
Terf2	A	T	8: 107,076,854	S365T	probably benign	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Trim8	A	T	19: 46,502,907	H155L	probably benign	Het
Wipi2	T	A	5: 142,655,938	V83D	probably damaging	Het
Zfp316	C	A	5: 143,254,884	R460L	possibly damaging	Het
Zfp651	T	G	9: 121,763,659	D348E	probably benign	Het
Zfp799	C	T	17: 32,820,285	V336M	probably damaging	Het
Zfp947	A	T	17: 22,146,414	I93N	probably damaging	Het
Zranb3	A	G	1: 128,040,957	Y74H	probably benign	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
R6133:Mex3d	UTSW	10	80386786	missense	probably damaging	0.99
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'- TGCTGCAGGAGTTAAAGCTG -3'
(R):5'- TTGACTTCCTGGCGCTAGAC -3'

Sequencing Primer
(F):5'- CTGCAGGAGTTAAAGCTGTTTGC -3'
(R):5'- AAGCGTCCCAGATCCAGTG -3'

Posted On

2018-05-04