Mutagenetix > Incidental Mutation

Incidental Mutation 'R9774:Mrto4'

733576

Institutional Source

Beutler Lab

Gene Symbol

Mrto4

Ensembl Gene

ENSMUSG00000028741

Gene Name

mRNA turnover 4, ribosome maturation factor

Synonyms

2610012O22Rik, Mrt4

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R9774 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139074751-139079887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139075287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

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 benign
Transcript: ENSMUST00000030513
AA Change: D172G

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741
AA Change: D172G

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 benign
Transcript: ENSMUST00000102503
AA Change: D172G

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741
AA Change: D172G

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 benign
Transcript: ENSMUST00000155257

SMART Domains

Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741

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: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	C	7: 30,399,261 (GRCm39)	Q18H	possibly damaging	Het
Adam23	C	T	1: 63,585,583 (GRCm39)	T390I	probably benign	Het
Adh7	T	A	3: 137,929,847 (GRCm39)	C174*	probably null	Het
Brip1	A	G	11: 86,077,838 (GRCm39)	S197P	possibly damaging	Het
Ccdc146	G	T	5: 21,506,247 (GRCm39)	D731E	probably benign	Het
Cfi	T	C	3: 129,668,645 (GRCm39)	V557A	probably damaging	Het
Col4a4	A	T	1: 82,484,665 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,299,093 (GRCm39)	I424V	unknown	Het
Cubn	C	T	2: 13,433,530 (GRCm39)	V1127I	probably benign	Het
Ehhadh	T	C	16: 21,581,976 (GRCm39)	T339A	probably benign	Het
Ezh2	T	A	6: 47,519,315 (GRCm39)	I506L	probably benign	Het
Fbxw21	T	C	9: 108,991,057 (GRCm39)	M1V	probably null	Het
Herc1	T	A	9: 66,372,032 (GRCm39)	V567E	probably null	Het
Hrh1	A	T	6: 114,457,241 (GRCm39)	E174V	probably benign	Het
Il12rb1	A	G	8: 71,272,040 (GRCm39)	S585G	possibly damaging	Het
Kcnq4	C	A	4: 120,573,076 (GRCm39)	A242S	probably damaging	Het
Ltbp3	A	G	19: 5,804,014 (GRCm39)	N842S	probably benign	Het
Mbd1	A	G	18: 74,408,274 (GRCm39)	Q309R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mroh2b	T	C	15: 4,943,613 (GRCm39)	I383T	probably benign	Het
Muc2	T	G	7: 141,285,811 (GRCm39)	S19A	probably benign	Het
Ndufb2	T	C	6: 39,575,301 (GRCm39)		probably null	Het
Npas3	A	T	12: 53,994,108 (GRCm39)	T246S	probably damaging	Het
Or8u8	C	T	2: 86,012,015 (GRCm39)	V147M	possibly damaging	Het
Pappa2	T	A	1: 158,675,920 (GRCm39)	N942I	probably damaging	Het
Pdzph1	A	G	17: 59,281,751 (GRCm39)	V177A	probably benign	Het
Rab5b	A	G	10: 128,522,658 (GRCm39)	V41A	probably benign	Het
Rnf111	T	C	9: 70,334,303 (GRCm39)	D980G	probably damaging	Het
Rreb1	A	G	13: 38,114,185 (GRCm39)	T515A	probably benign	Het
Rsf1	GCGGC	GCGGCGGCGTCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Serpinb13	T	A	1: 106,923,579 (GRCm39)	F95I	probably benign	Het
Sgsm3	C	T	15: 80,890,673 (GRCm39)	R76C	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Slc22a6	T	C	19: 8,603,134 (GRCm39)	V494A	probably benign	Het
Spag9	A	G	11: 94,005,062 (GRCm39)	E1182G	probably damaging	Het
Spata13	T	C	14: 60,944,196 (GRCm39)	S530P	probably benign	Het
Spatc1l	A	G	10: 76,405,168 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,938,965 (GRCm39)	S330P	probably damaging	Het
Stau2	A	T	1: 16,445,010 (GRCm39)	M306K	probably damaging	Het
Tcea2	C	T	2: 181,328,664 (GRCm39)	T239I	probably damaging	Het
Tlcd2	A	G	11: 75,359,131 (GRCm39)	D34G	probably damaging	Het
Tmem132a	C	T	19: 10,842,904 (GRCm39)	W190*	probably null	Het
Top3a	C	A	11: 60,638,998 (GRCm39)	V551L	probably damaging	Het
Trpm1	G	A	7: 63,898,041 (GRCm39)	E1225K	possibly damaging	Het
Tti2	A	G	8: 31,645,660 (GRCm39)	H350R	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tyw3	T	C	3: 154,302,584 (GRCm39)	D27G	probably damaging	Het
Usp36	G	A	11: 118,153,875 (GRCm39)	A1012V	probably damaging	Het
Vmn2r14	G	A	5: 109,369,126 (GRCm39)	T149I	probably benign	Het
Vps13c	T	A	9: 67,791,873 (GRCm39)	S380T	possibly damaging	Het

Other mutations in Mrto4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0083:Mrto4	UTSW	4	139,075,279 (GRCm39)	missense	possibly damaging	0.87
R0416:Mrto4	UTSW	4	139,077,043 (GRCm39)	splice site	probably null
R1959:Mrto4	UTSW	4	139,076,949 (GRCm39)	missense	probably damaging	0.98
R2062:Mrto4	UTSW	4	139,076,334 (GRCm39)	missense	probably benign	0.03
R2063:Mrto4	UTSW	4	139,076,334 (GRCm39)	missense	probably benign	0.03
R2065:Mrto4	UTSW	4	139,076,334 (GRCm39)	missense	probably benign	0.03
R2066:Mrto4	UTSW	4	139,076,334 (GRCm39)	missense	probably benign	0.03
R2067:Mrto4	UTSW	4	139,076,334 (GRCm39)	missense	probably benign	0.03
R5217:Mrto4	UTSW	4	139,075,770 (GRCm39)	missense	probably benign	0.14
R5436:Mrto4	UTSW	4	139,075,276 (GRCm39)	missense	probably damaging	1.00
R6173:Mrto4	UTSW	4	139,077,755 (GRCm39)	missense	probably benign	0.01
R7812:Mrto4	UTSW	4	139,075,278 (GRCm39)	missense	possibly damaging	0.77
R7944:Mrto4	UTSW	4	139,077,000 (GRCm39)	missense	probably benign	0.01
R9803:Mrto4	UTSW	4	139,076,381 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCGTCCCACATGTATTTGATG -3'
(R):5'- TCTCCAGTCTGCCTTGTAAAG -3'

Sequencing Primer
(F):5'- TACCCAAACAGCTTCTGTGAGAGG -3'
(R):5'- CCTTGTAAAGGCAGAGCTGAGC -3'

Posted On

2022-11-14