Mutagenetix > Incidental Mutation

Incidental Mutation 'R9415:Mex3a'

711983

Institutional Source

Beutler Lab

Gene Symbol

Mex3a

Ensembl Gene

ENSMUSG00000074480

Gene Name

mex3 RNA binding family member A

Synonyms

Rkhd4, 2700083E18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R9415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88439702-88448703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88444480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 519 (F519I)

Ref Sequence

ENSEMBL: ENSMUSP00000134222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008745] [ENSMUST00000172699]

AlphaFold

G3UYU0

Predicted Effect

probably benign
Transcript: ENSMUST00000008745

SMART Domains

Protein: ENSMUSP00000008745
Gene: ENSMUSG00000008601

Domain	Start	End	E-Value	Type
RAB	13	176	2.1e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172699
AA Change: F519I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134222
Gene: ENSMUSG00000074480
AA Change: F519I

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: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,476,598 (GRCm39)	M1340T	probably benign	Het
Arhgef15	A	G	11: 68,842,233 (GRCm39)	L457P	probably damaging	Het
Arih2	A	T	9: 108,486,986 (GRCm39)	C317S	probably damaging	Het
Asb14	A	T	14: 26,633,793 (GRCm39)	T333S	probably damaging	Het
Atp13a4	T	C	16: 29,227,821 (GRCm39)	N1012S		Het
Capn9	C	A	8: 125,332,449 (GRCm39)	D429E	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cntrob	C	T	11: 69,193,741 (GRCm39)	R803Q	possibly damaging	Het
Dnah8	A	G	17: 31,029,297 (GRCm39)	I4089V	probably benign	Het
Fam162b	A	G	10: 51,466,155 (GRCm39)		probably null	Het
Fhod3	A	G	18: 25,102,244 (GRCm39)	D180G	probably damaging	Het
Gtf3c4	A	G	2: 28,723,966 (GRCm39)	S589P	possibly damaging	Het
Jcad	T	C	18: 4,673,912 (GRCm39)	L558P	probably damaging	Het
Kmt2d	A	G	15: 98,737,586 (GRCm39)	I5170T	unknown	Het
Lamb3	T	C	1: 193,008,319 (GRCm39)	F251L	probably benign	Het
Lpxn	T	A	19: 12,802,336 (GRCm39)	D220E	probably benign	Het
Mfap1a	T	C	2: 121,337,001 (GRCm39)	M8V	probably benign	Het
Mical3	T	A	6: 120,934,712 (GRCm39)	D1789V	probably damaging	Het
Mpdz	G	A	4: 81,235,905 (GRCm39)	Q1211*	probably null	Het
Myd88	A	G	9: 119,167,070 (GRCm39)		probably null	Het
Myof	T	A	19: 37,941,412 (GRCm39)	K799N	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntn4	A	G	10: 93,480,488 (GRCm39)	T71A	probably benign	Het
Omd	A	C	13: 49,745,837 (GRCm39)	M416L	probably benign	Het
Oog1	G	C	12: 87,655,086 (GRCm39)	L411F	probably damaging	Het
Or10a3m	T	A	7: 108,313,042 (GRCm39)	W161R	probably damaging	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or56a5	T	G	7: 104,793,498 (GRCm39)	M7L	probably benign	Het
Or7e171-ps1	A	G	9: 19,853,200 (GRCm39)	W179R	probably benign	Het
Pde4dip	T	C	3: 97,660,468 (GRCm39)	Q670R	possibly damaging	Het
Pex13	C	A	11: 23,601,034 (GRCm39)	G272V	probably damaging	Het
Pfkl	A	T	10: 77,824,081 (GRCm39)	V769D	probably damaging	Het
Pkn3	A	G	2: 29,968,332 (GRCm39)	Y10C	probably benign	Het
Pomgnt1	A	G	4: 116,013,378 (GRCm39)	H500R	probably damaging	Het
Rasef	T	C	4: 73,645,882 (GRCm39)	T496A	probably benign	Het
Rgs6	A	G	12: 83,184,166 (GRCm39)	S459G	probably benign	Het
Serpinb6b	A	T	13: 33,159,002 (GRCm39)	M187L		Het
Shcbp1l	A	G	1: 153,321,627 (GRCm39)	I408M	possibly damaging	Het
Slc25a45	T	C	19: 5,934,967 (GRCm39)	V272A	probably damaging	Het
Tlr4	T	C	4: 66,746,160 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,550,064 (GRCm39)	N774I		Het
Urb2	T	A	8: 124,756,613 (GRCm39)	S773R	possibly damaging	Het
Vmn1r35	A	T	6: 66,656,115 (GRCm39)	V185E	probably damaging	Het
Vps13d	A	C	4: 144,796,527 (GRCm39)	V3691G		Het
Wdtc1	A	G	4: 133,022,684 (GRCm39)	V554A	possibly damaging	Het
Xrn1	A	T	9: 95,851,527 (GRCm39)	M182L	probably damaging	Het
Zfp747	T	C	7: 126,973,198 (GRCm39)	H324R	possibly damaging	Het

Other mutations in Mex3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01581:Mex3a	APN	3	88,443,671 (GRCm39)	missense	probably damaging	1.00
IGL02930:Mex3a	APN	3	88,443,532 (GRCm39)	missense	probably benign	0.21
IGL03000:Mex3a	APN	3	88,443,602 (GRCm39)	missense	probably damaging	1.00
IGL03357:Mex3a	APN	3	88,443,553 (GRCm39)	missense	probably benign	0.06
R0143:Mex3a	UTSW	3	88,443,562 (GRCm39)	missense	probably benign	0.04
R1109:Mex3a	UTSW	3	88,443,967 (GRCm39)	missense	possibly damaging	0.90
R1700:Mex3a	UTSW	3	88,443,682 (GRCm39)	missense	probably damaging	1.00
R2312:Mex3a	UTSW	3	88,443,785 (GRCm39)	missense	probably damaging	1.00
R5070:Mex3a	UTSW	3	88,443,694 (GRCm39)	missense	probably damaging	1.00
R6838:Mex3a	UTSW	3	88,444,084 (GRCm39)	missense	probably benign	0.04
R8006:Mex3a	UTSW	3	88,444,393 (GRCm39)	missense	probably damaging	1.00
R8111:Mex3a	UTSW	3	88,444,064 (GRCm39)	missense	probably benign	0.18
R8205:Mex3a	UTSW	3	88,444,159 (GRCm39)	missense	possibly damaging	0.47
R9288:Mex3a	UTSW	3	88,443,458 (GRCm39)	missense	possibly damaging	0.95
R9386:Mex3a	UTSW	3	88,443,505 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GGGTTTCTCTAAACTGGGGAC -3'
(R):5'- ACTTATGGCCCCTCCCAAAG -3'

Sequencing Primer
(F):5'- GCTTTGAGAGTGAAGTGAC -3'
(R):5'- CCAGAGGCTCTGAAAATG -3'

Posted On

2022-05-16