Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02407:Elac2'

292120

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 #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

64979038-65002069 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64999175 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 612 (V612A)

Ref Sequence

ENSEMBL: ENSMUSP00000098610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047463] [ENSMUST00000071891] [ENSMUST00000093002] [ENSMUST00000101049] [ENSMUST00000108697]

Predicted Effect

probably benign
Transcript: ENSMUST00000047463

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	530	556	N/A	INTRINSIC
low complexity region	561	575	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC
low complexity region	616	631	N/A	INTRINSIC
low complexity region	664	689	N/A	INTRINSIC
low complexity region	695	707	N/A	INTRINSIC
low complexity region	716	746	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071891
AA Change: V612A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: V612A

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

probably benign
Transcript: ENSMUST00000093002

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	536	562	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	598	612	N/A	INTRINSIC
low complexity region	622	637	N/A	INTRINSIC
low complexity region	670	695	N/A	INTRINSIC
low complexity region	701	713	N/A	INTRINSIC
low complexity region	722	752	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101049
AA Change: V612A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: V612A

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

probably benign
Transcript: ENSMUST00000108697
AA Change: V611A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: V611A

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

noncoding transcript
Transcript: ENSMUST00000128693

Predicted Effect

probably benign
Transcript: ENSMUST00000130420

SMART Domains

Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389

Domain	Start	End	E-Value	Type
Pfam:BAR	1	117	1.1e-29	PFAM
RhoGAP	141	317	1.07e-66	SMART
low complexity region	411	437	N/A	INTRINSIC
low complexity region	442	456	N/A	INTRINSIC
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC
low complexity region	545	570	N/A	INTRINSIC
low complexity region	576	588	N/A	INTRINSIC
low complexity region	597	627	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140369

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,256,484	N393K	probably damaging	Het
A2m	G	A	6: 121,668,616	W1040*	probably null	Het
Adgrv1	C	A	13: 81,479,670	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,889,227	Y345*	probably null	Het
Aplp2	A	T	9: 31,158,527	Y496*	probably null	Het
Ash1l	T	C	3: 89,072,548	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,826,933	D575E	probably benign	Het
Ceacam20	G	T	7: 19,970,407	V128F	probably benign	Het
Cers4	A	T	8: 4,520,306	K204*	probably null	Het
Cog1	T	C	11: 113,654,026	Y345H	probably benign	Het
Col14a1	T	C	15: 55,448,876		probably benign	Het
Col19a1	A	T	1: 24,312,372		probably null	Het
Ctnnd2	T	A	15: 30,966,768	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,451,842	M275K	probably damaging	Het
Degs2	T	G	12: 108,691,995	T242P	probably damaging	Het
Elovl6	T	A	3: 129,605,084	F45I	probably damaging	Het
Exoc1	A	C	5: 76,545,346	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309	S101T	possibly damaging	Het
Glyr1	A	G	16: 5,036,948	F89L	probably benign	Het
Herc4	C	A	10: 63,306,424	T668K	probably damaging	Het
Hibadh	C	T	6: 52,548,889	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 138,240,672	D397E	probably damaging	Het
Ift80	G	T	3: 68,898,536	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,573,239		probably benign	Het
Irf9	G	T	14: 55,605,221	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,785,293	V76M	probably damaging	Het
Krt4	T	C	15: 101,921,305	I263V	probably benign	Het
Lgals8	A	G	13: 12,454,818	W87R	probably benign	Het
Mccc2	G	A	13: 99,991,308	P96L	probably damaging	Het
Megf11	A	C	9: 64,680,249	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,423,127		probably benign	Het
Ndor1	A	G	2: 25,249,269	V230A	probably benign	Het
Nif3l1	G	T	1: 58,457,797	V294L	possibly damaging	Het
Olfr1285	T	A	2: 111,408,578		noncoding transcript	Het
Pcdhb13	T	A	18: 37,443,075	Y169N	probably damaging	Het
Peg3	A	G	7: 6,707,636	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,146,844	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,567,639	R242W	unknown	Het
Prrc2a	A	T	17: 35,160,504	D255E	unknown	Het
Rapgef6	G	T	11: 54,676,355	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,754,958	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,843,268		probably benign	Het
Slc30a9	A	G	5: 67,352,722	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,690,243	S172G	probably benign	Het
Slfn2	C	A	11: 83,069,576	T127K	probably benign	Het
Smurf1	A	T	5: 144,884,724	M496K	probably damaging	Het
Srgap2	A	T	1: 131,319,602	V564D	probably damaging	Het
Stk32a	T	C	18: 43,297,511	I162T	probably benign	Het
Tchhl1	A	T	3: 93,471,327	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584	H211Q	probably damaging	Het
Trim3	T	C	7: 105,613,011	N586S	probably benign	Het
Trpm1	A	G	7: 64,219,121	E507G	probably damaging	Het
Tyk2	G	T	9: 21,109,227		probably benign	Het
Ugt3a2	A	T	15: 9,365,230	K310*	probably null	Het
Unc13a	T	A	8: 71,648,942	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,659,803	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,521,508	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,349,315	M25T	probably benign	Het
Zfp563	G	A	17: 33,104,821	R130Q	probably benign	Het
Zhx2	A	G	15: 57,823,406	S724G	probably benign	Het

Other mutations in Elac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00664:Elac2	APN	11	64980650	missense	possibly damaging	0.92
IGL02035:Elac2	APN	11	65001835	missense	probably benign
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

2015-04-16