Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Mrto4'

735303

Institutional Source

Beutler Lab

Gene Symbol

Mrto4

Ensembl Gene

ENSMUSG00000028741

Gene Name

mRNA turnover 4, ribosome maturation factor

Synonyms

Mrt4, 2610012O22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139347435-139352576 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139349070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 70 (N70I)

Ref Sequence

ENSEMBL: ENSMUSP00000099561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030513] [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000102503] [ENSMUST00000147999] [ENSMUST00000155257] [ENSMUST00000179784]

AlphaFold

Q9D0I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030513
AA Change: N70I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741
AA Change: N70I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	18	121	7.9e-23	PFAM
low complexity region	222	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042096

SMART Domains

Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	5.3e-9	PFAM
Pfam:DUF1620	787	993	1.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082262

SMART Domains

Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	4.7e-10	PFAM
Pfam:DUF1620	791	996	1.1e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102503
AA Change: N70I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741
AA Change: N70I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	18	121	4.6e-24	PFAM
low complexity region	223	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147999

SMART Domains

Protein: ENSMUSP00000117419
Gene: ENSMUSG00000066036

Domain	Start	End	E-Value	Type
low complexity region	170	226	N/A	INTRINSIC
low complexity region	617	629	N/A	INTRINSIC
Pfam:E3_UbLigase_R4	1205	1301	4.5e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155257
AA Change: N23I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741
AA Change: N23I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L10	1	61	4.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179784

SMART Domains

Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517

Domain	Start	End	E-Value	Type
Pfam:PQQ_2	21	258	5.3e-9	PFAM
Pfam:DUF1620	790	996	1.1e-66	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably damaging	Het

Other mutations in Mrto4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0083:Mrto4	UTSW	4	139347968	missense	possibly damaging	0.87
R0416:Mrto4	UTSW	4	139349732	splice site	probably null
R1959:Mrto4	UTSW	4	139349638	missense	probably damaging	0.98
R2062:Mrto4	UTSW	4	139349023	missense	probably benign	0.03
R2063:Mrto4	UTSW	4	139349023	missense	probably benign	0.03
R2065:Mrto4	UTSW	4	139349023	missense	probably benign	0.03
R2066:Mrto4	UTSW	4	139349023	missense	probably benign	0.03
R2067:Mrto4	UTSW	4	139349023	missense	probably benign	0.03
R5217:Mrto4	UTSW	4	139348459	missense	probably benign	0.14
R5436:Mrto4	UTSW	4	139347965	missense	probably damaging	1.00
R6173:Mrto4	UTSW	4	139350444	missense	probably benign	0.01
R7812:Mrto4	UTSW	4	139347967	missense	possibly damaging	0.77
R7944:Mrto4	UTSW	4	139349689	missense	probably benign	0.01
R9774:Mrto4	UTSW	4	139347976	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CCTAGTAAGTAGGGGTCATAGCCC -3'
(R):5'- GAGCTGTCTCAAACTGTTGGC -3'

Sequencing Primer
(F):5'- CCCCATGGGTCTGGAGATTAAG -3'
(R):5'- ACTGTTGGCAAGATCCGATC -3'

Posted On

2022-11-14