Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00664:Elac2'

13445

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elac2

Ensembl Gene

ENSMUSG00000020549

Gene Name

elaC ribonuclease Z 2

Synonyms

1110017O07Rik, tRNase Z(L), D11Wsu80e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00664

Quality Score

Status

Chromosome

Chromosomal Location

64979038-65002069 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64980650 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 129 (V129A)

Ref Sequence

ENSEMBL: ENSMUSP00000098610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071891] [ENSMUST00000101049] [ENSMUST00000108697] [ENSMUST00000132308]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071891
AA Change: V129A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: V129A

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B_4	53	112	1.5e-16	PFAM
Lactamase_B	494	698	1.75e0	SMART
low complexity region	772	791	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101049
AA Change: V129A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: V129A

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B_4	53	112	3.1e-17	PFAM
Lactamase_B	494	698	1.75e0	SMART
low complexity region	772	791	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108697
AA Change: V129A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: V129A

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B_4	53	112	9.8e-19	PFAM
Lactamase_B	493	697	1.75e0	SMART
low complexity region	771	790	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132308

SMART Domains

Protein: ENSMUSP00000117422
Gene: ENSMUSG00000020549

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	29	95	6e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142574

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bptf	T	A	11: 107,077,665	D1001V	possibly damaging	Het
Clca1	G	A	3: 145,027,899	T92M	probably benign	Het
Fyb2	T	C	4: 105,015,716	I762T	probably damaging	Het
Gm5346	A	T	8: 43,625,969	V406E	probably benign	Het
Ifna4	T	C	4: 88,842,099	V80A	probably benign	Het

Other mutations in Elac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Elac2	APN	11	65001835	missense	probably benign
IGL02407:Elac2	APN	11	64999175	missense	probably benign	0.01
R0329:Elac2	UTSW	11	64979310	missense	probably damaging	1.00
R0360:Elac2	UTSW	11	64979310	missense	probably damaging	1.00
R0364:Elac2	UTSW	11	64979310	missense	probably damaging	1.00
R0526:Elac2	UTSW	11	64999436	missense	probably benign	0.07
R0729:Elac2	UTSW	11	64998523	missense	possibly damaging	0.62
R1912:Elac2	UTSW	11	64994263	missense	probably benign
R1929:Elac2	UTSW	11	64979189	missense	probably benign	0.00
R2345:Elac2	UTSW	11	65001074	missense	probably damaging	0.99
R4765:Elac2	UTSW	11	64992222	missense	probably damaging	1.00
R4828:Elac2	UTSW	11	64995327	missense	probably damaging	1.00
R5000:Elac2	UTSW	11	64985553	missense	probably benign
R5109:Elac2	UTSW	11	64992316	missense	probably damaging	1.00
R5391:Elac2	UTSW	11	64994294	missense	probably benign
R5865:Elac2	UTSW	11	64997957	missense	probably benign	0.39
R5953:Elac2	UTSW	11	64999223	missense	probably benign	0.00
R6800:Elac2	UTSW	11	64999439	critical splice donor site	probably null
R6829:Elac2	UTSW	11	64989364	missense	probably benign
R6870:Elac2	UTSW	11	64999763	missense	probably null	1.00
R7037:Elac2	UTSW	11	64983711	missense	probably benign
R7869:Elac2	UTSW	11	64999387	missense	probably damaging	0.99
R7952:Elac2	UTSW	11	64999387	missense	probably damaging	0.99
X0020:Elac2	UTSW	11	64987458	missense	probably damaging	0.96

Posted On

2012-12-06