Mutagenetix > Incidental Mutation

Incidental Mutation 'R6938:Mex3d'

540393

Institutional Source

Beutler Lab

Gene Symbol

Mex3d

Ensembl Gene

ENSMUSG00000048696

Gene Name

mex3 RNA binding family member D

Synonyms

Rkhd1

MMRRC Submission

045052-MU

Accession Numbers

Essential gene?

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

Stock #

R6938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80216189-80223485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80218074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 381 (N381S)

Ref Sequence

ENSEMBL: ENSMUSP00000100987 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105350
AA Change: N381S

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100987
Gene: ENSMUSG00000048696
AA Change: N381S

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

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	C	4: 152,302,351 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,082,949 (GRCm39)	M320T	probably benign	Het
Adam22	A	T	5: 8,196,499 (GRCm39)	Y259N	probably benign	Het
Akap9	C	A	5: 4,096,628 (GRCm39)	A2501D	possibly damaging	Het
Angpt2	G	T	8: 18,748,105 (GRCm39)	S385*	probably null	Het
Asxl2	G	C	12: 3,526,149 (GRCm39)	R255T	probably damaging	Het
Btg3	T	C	16: 78,157,216 (GRCm39)	I244V	probably benign	Het
Casr	T	C	16: 36,316,283 (GRCm39)	T596A	probably damaging	Het
Ccl1	A	T	11: 82,067,684 (GRCm39)	V82D	probably damaging	Het
Col18a1	T	A	10: 76,948,333 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,873,379 (GRCm39)	D1243G	probably benign	Het
Dnaaf9	A	C	2: 130,617,673 (GRCm39)	H297Q	probably benign	Het
Drc3	A	T	11: 60,284,949 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gbp4	T	C	5: 105,282,943 (GRCm39)	D109G	probably damaging	Het
Gstz1	A	G	12: 87,193,943 (GRCm39)		probably null	Het
Kctd10	C	A	5: 114,508,191 (GRCm39)	E106*	probably null	Het
Kctd20	G	A	17: 29,180,555 (GRCm39)	G110S	probably benign	Het
Klk1b26	A	T	7: 43,665,718 (GRCm39)	T177S	probably benign	Het
Kyat3	T	A	3: 142,431,183 (GRCm39)	V118E	probably damaging	Het
Maml3	T	C	3: 52,011,159 (GRCm39)	K136E	probably damaging	Het
Mmrn2	A	T	14: 34,120,671 (GRCm39)	T514S	probably benign	Het
Nlrp1b	G	A	11: 71,109,042 (GRCm39)	A153V	probably damaging	Het
Or13e8	C	T	4: 43,696,286 (GRCm39)	V296M	probably damaging	Het
Pcolce	T	C	5: 137,603,878 (GRCm39)	T365A	probably benign	Het
Plbd1	T	C	6: 136,593,985 (GRCm39)	I377V	probably benign	Het
Plk2	T	A	13: 110,533,214 (GRCm39)	Y192*	probably null	Het
Rev3l	T	A	10: 39,738,706 (GRCm39)	V2820D	probably damaging	Het
Secisbp2l	G	T	2: 125,592,272 (GRCm39)	P650T	probably damaging	Het
Slc9a5	T	C	8: 106,080,064 (GRCm39)	L69P	probably damaging	Het
Sp9	T	C	2: 73,103,616 (GRCm39)	C57R	probably damaging	Het
Tbl3	A	T	17: 24,924,187 (GRCm39)	V190D	possibly damaging	Het
Timm8b	A	G	9: 50,516,294 (GRCm39)	D49G	possibly damaging	Het
Tmem231	T	C	8: 112,660,144 (GRCm39)	S53G	probably damaging	Het
Topbp1	T	A	9: 103,205,753 (GRCm39)	V797D	probably damaging	Het
Trip11	A	T	12: 101,803,886 (GRCm39)	D1665E	probably damaging	Het
Txk	C	A	5: 72,856,492 (GRCm39)	R433L	probably damaging	Het
Vmn1r19	T	C	6: 57,381,992 (GRCm39)	S182P	possibly damaging	Het
Vps13b	T	G	15: 35,423,344 (GRCm39)	I221M	probably damaging	Het
Xpo7	T	C	14: 70,903,464 (GRCm39)	N1082D	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
R7154:Mex3d	UTSW	10	80,222,584 (GRCm39)	missense
R7241:Mex3d	UTSW	10	80,223,091 (GRCm39)	missense
R7463:Mex3d	UTSW	10	80,217,532 (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'- AAAGTCACAGTCCTCTGGGG -3'
(R):5'- CTAATCCGAGCCACACGTAG -3'

Sequencing Primer
(F):5'- ATGTGAAGCCCCCATTGC -3'
(R):5'- CGAGCCACACGTAGCAAGG -3'

Posted On

2018-11-06