Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01972:Mtrex'

181653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtrex

Ensembl Gene

ENSMUSG00000016018

Gene Name

Mtr4 exosome RNA helicase

Synonyms

Skiv2l2, 2610528A15Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL01972

Quality Score

Status

Chromosome

Chromosomal Location

113004306-113063914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113017595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 853 (K853E)

Ref Sequence

ENSEMBL: ENSMUSP00000022281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022281]

AlphaFold

Q9CZU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022281
AA Change: K853E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: K853E

Domain	Start	End	E-Value	Type
low complexity region	20	37	N/A	INTRINSIC
DEXDc	134	317	6.42e-34	SMART
HELICc	437	526	3.14e-19	SMART
Pfam:rRNA_proc-arch	580	839	1.7e-91	PFAM
DSHCT	863	1040	1.69e-96	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224639

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(16) : Targeted(2) Gene trapped(14)

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahr	T	G	12: 35,554,448 (GRCm39)	D557A	possibly damaging	Het
Akap11	T	C	14: 78,745,297 (GRCm39)	Q1697R	probably damaging	Het
Alpi	T	A	1: 87,027,431 (GRCm39)	T312S	probably damaging	Het
Cacna1b	C	A	2: 24,525,107 (GRCm39)		probably null	Het
Car5a	C	T	8: 122,653,821 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,450,883 (GRCm39)	T841A	possibly damaging	Het
Eml6	A	T	11: 29,788,451 (GRCm39)	F545I	possibly damaging	Het
Fam114a2	G	A	11: 57,400,220 (GRCm39)	T156I	probably damaging	Het
Fbxl21	C	T	13: 56,684,672 (GRCm39)	R259*	probably null	Het
Fhip1b	T	C	7: 105,039,352 (GRCm39)	N5S	probably damaging	Het
Gm5117	C	T	8: 32,227,787 (GRCm39)		noncoding transcript	Het
Hc	T	C	2: 34,873,784 (GRCm39)	Y1650C	probably damaging	Het
Med12l	C	A	3: 59,169,314 (GRCm39)	T1568K	probably damaging	Het
Or2ag2b	A	G	7: 106,417,739 (GRCm39)	I150V	probably benign	Het
Or5g27	T	C	2: 85,410,117 (GRCm39)	F178S	probably damaging	Het
Or6n1	G	T	1: 173,916,987 (GRCm39)	C127F	probably damaging	Het
Orm3	A	G	4: 63,277,563 (GRCm39)	S184G	probably benign	Het
Padi1	A	G	4: 140,546,170 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,648,988 (GRCm39)	T357A	probably benign	Het
Tmem17	A	G	11: 22,467,265 (GRCm39)	S60G	probably benign	Het
Ubqlnl	G	T	7: 103,798,904 (GRCm39)	Q198K	probably benign	Het
Vmn1r69	A	T	7: 10,314,586 (GRCm39)	Y48*	probably null	Het
Zfp658	G	A	7: 43,222,134 (GRCm39)	W136*	probably null	Het

Other mutations in Mtrex

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Mtrex	APN	13	113,051,023 (GRCm39)	missense	probably damaging	1.00
IGL01772:Mtrex	APN	13	113,027,859 (GRCm39)	missense	probably benign	0.10
IGL01843:Mtrex	APN	13	113,055,095 (GRCm39)	splice site	probably benign
IGL02451:Mtrex	APN	13	113,027,881 (GRCm39)	missense	probably damaging	1.00
IGL02716:Mtrex	APN	13	113,019,680 (GRCm39)	missense	probably benign	0.13
IGL03234:Mtrex	APN	13	113,017,509 (GRCm39)	splice site	probably benign
K3955:Mtrex	UTSW	13	113,047,513 (GRCm39)	nonsense	probably null
P0038:Mtrex	UTSW	13	113,047,513 (GRCm39)	nonsense	probably null
R0067:Mtrex	UTSW	13	113,023,396 (GRCm39)	missense	probably benign	0.34
R0067:Mtrex	UTSW	13	113,023,396 (GRCm39)	missense	probably benign	0.34
R0086:Mtrex	UTSW	13	113,063,862 (GRCm39)	missense	probably benign	0.00
R0687:Mtrex	UTSW	13	113,050,895 (GRCm39)	missense	probably damaging	1.00
R1216:Mtrex	UTSW	13	113,050,876 (GRCm39)	splice site	probably benign
R1218:Mtrex	UTSW	13	113,054,156 (GRCm39)	missense	probably damaging	1.00
R1312:Mtrex	UTSW	13	113,019,785 (GRCm39)	nonsense	probably null
R1827:Mtrex	UTSW	13	113,049,633 (GRCm39)	critical splice donor site	probably null
R1852:Mtrex	UTSW	13	113,009,461 (GRCm39)	missense	probably benign	0.00
R1889:Mtrex	UTSW	13	113,024,024 (GRCm39)	missense	probably benign	0.00
R2205:Mtrex	UTSW	13	113,035,424 (GRCm39)	missense	probably benign	0.06
R2256:Mtrex	UTSW	13	113,013,046 (GRCm39)	missense	probably damaging	0.98
R2394:Mtrex	UTSW	13	113,019,702 (GRCm39)	missense	probably benign	0.02
R3717:Mtrex	UTSW	13	113,032,129 (GRCm39)	missense	probably damaging	1.00
R3779:Mtrex	UTSW	13	113,039,926 (GRCm39)	splice site	probably benign
R4613:Mtrex	UTSW	13	113,058,273 (GRCm39)	nonsense	probably null
R4939:Mtrex	UTSW	13	113,046,426 (GRCm39)	missense	possibly damaging	0.91
R5452:Mtrex	UTSW	13	113,049,715 (GRCm39)	missense	probably null	0.96
R5591:Mtrex	UTSW	13	113,063,890 (GRCm39)	start codon destroyed	probably null	0.88
R5688:Mtrex	UTSW	13	113,009,590 (GRCm39)	nonsense	probably null
R5761:Mtrex	UTSW	13	113,054,196 (GRCm39)	missense	probably damaging	0.96
R5789:Mtrex	UTSW	13	113,027,819 (GRCm39)	missense	probably benign	0.01
R5851:Mtrex	UTSW	13	113,045,486 (GRCm39)	missense	probably damaging	1.00
R6038:Mtrex	UTSW	13	113,027,824 (GRCm39)	missense	probably benign	0.00
R6038:Mtrex	UTSW	13	113,027,824 (GRCm39)	missense	probably benign	0.00
R6348:Mtrex	UTSW	13	113,047,451 (GRCm39)	missense	possibly damaging	0.88
R7276:Mtrex	UTSW	13	113,050,973 (GRCm39)	missense	probably benign	0.00
R7397:Mtrex	UTSW	13	113,058,220 (GRCm39)	missense	probably benign
R7792:Mtrex	UTSW	13	113,009,443 (GRCm39)	missense	probably benign	0.02
R7863:Mtrex	UTSW	13	113,045,435 (GRCm39)	missense	probably benign	0.00
R7948:Mtrex	UTSW	13	113,058,296 (GRCm39)	missense	probably benign	0.02
R8035:Mtrex	UTSW	13	113,035,336 (GRCm39)	missense	probably benign	0.09
R8124:Mtrex	UTSW	13	113,063,871 (GRCm39)	missense	probably benign	0.01
R8152:Mtrex	UTSW	13	113,009,517 (GRCm39)	nonsense	probably null
R8189:Mtrex	UTSW	13	113,028,515 (GRCm39)	missense	possibly damaging	0.54
R8880:Mtrex	UTSW	13	113,051,034 (GRCm39)	missense	probably benign	0.04
R9228:Mtrex	UTSW	13	113,050,888 (GRCm39)	critical splice donor site	probably null
R9281:Mtrex	UTSW	13	113,046,443 (GRCm39)	nonsense	probably null
R9679:Mtrex	UTSW	13	113,032,055 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07