Mutagenetix > Incidental Mutation

Incidental Mutation 'R0687:Mtrex'

61203

Institutional Source

Beutler Lab

Gene Symbol

Mtrex

Ensembl Gene

ENSMUSG00000016018

Gene Name

Mtr4 exosome RNA helicase

Synonyms

Skiv2l2, 2610528A15Rik

MMRRC Submission

038872-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0687 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

113004306-113063914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113050895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 227 (T227A)

Ref Sequence

ENSEMBL: ENSMUSP00000022281 (fasta)

Gene Model

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

AlphaFold

Q9CZU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022281
AA Change: T227A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: T227A

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: ENSMUST00000225037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225997

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,606 (GRCm39)	D42V	possibly damaging	Het
B3gnt9	T	A	8: 105,981,415 (GRCm39)		probably benign	Het
Ccdc150	A	T	1: 54,324,790 (GRCm39)		probably null	Het
Fstl5	A	G	3: 76,615,119 (GRCm39)	I727V	possibly damaging	Het
Garre1	T	G	7: 33,944,843 (GRCm39)	Q679P	possibly damaging	Het
Nae1	C	A	8: 105,239,876 (GRCm39)	R484L	probably damaging	Het
Nudt19	T	A	7: 35,250,897 (GRCm39)	T281S	probably benign	Het
Osgin1	T	A	8: 120,172,571 (GRCm39)	V455E	probably damaging	Het
Pcnx3	A	T	19: 5,734,361 (GRCm39)	D655E	probably damaging	Het
Plch1	C	T	3: 63,623,450 (GRCm39)	V617M	probably damaging	Het
Polk	A	T	13: 96,620,525 (GRCm39)	N579K	probably damaging	Het
Scube2	C	A	7: 109,428,335 (GRCm39)	V513F	possibly damaging	Het
Spen	T	C	4: 141,215,339 (GRCm39)	M498V	unknown	Het
Tm7sf3	T	A	6: 146,523,388 (GRCm39)	N163I	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Usp24	A	T	4: 106,277,701 (GRCm39)	K2277I	probably damaging	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
IGL01972:Mtrex	APN	13	113,017,595 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAAAACCATGTTACGTGCAAAA -3'
(R):5'- CCGCTGTAGTCAAGTGACTAGAGTCAAA -3'

Sequencing Primer
(F):5'- TCTTACTGTGATAAATACCCAGGC -3'
(R):5'- GACTAGAGTCAAATGTCCTTGTCC -3'

Posted On

2013-07-30