Mutagenetix > Incidental Mutations

Incidental Mutation 'R7037:Elac2'

546781

Institutional Source

Beutler Lab

Gene Symbol

Elac2

Ensembl Gene

ENSMUSG00000020549

Gene Name

elaC ribonuclease Z 2

Synonyms

1110017O07Rik, tRNase Z(L), D11Wsu80e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64979038-65002069 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64983711 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 218 (E218G)

Ref Sequence

ENSEMBL: ENSMUSP00000104337 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071891
AA Change: E218G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: E218G

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: ENSMUST00000101049
AA Change: E218G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: E218G

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: E218G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: E218G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,768,043	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,774,278	V314D	probably damaging	Het
Arl14epl	T	G	18: 46,932,443	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,149,992	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2b	C	T	2: 59,933,670		probably null	Het
Bicral	T	C	17: 46,824,634	H550R	probably benign	Het
C1rl	A	G	6: 124,508,639	Y323C	probably damaging	Het
Ccr9	T	A	9: 123,779,971	H239Q	possibly damaging	Het
Cdh16	T	A	8: 104,617,635	R91*	probably null	Het
Coro1c	A	G	5: 113,845,396	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,176,129	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,470,748	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,118	E247G	probably damaging	Het
Dbr1	T	A	9: 99,576,568		probably null	Het
Dclk1	T	C	3: 55,463,048	S23P	probably damaging	Het
Diexf	A	C	1: 193,120,723		probably null	Het
Dpyd	A	T	3: 118,899,289	I361F	probably benign	Het
Eml4	T	A	17: 83,425,327	D136E	probably benign	Het
Fam198a	G	T	9: 121,965,526	V249L	possibly damaging	Het
Fam71e2	G	T	7: 4,758,585		probably benign	Het
Foxred1	A	T	9: 35,207,548	S223T	probably benign	Het
Gm11595	A	G	11: 99,772,648	C69R	unknown	Het
Gm14124	G	T	2: 150,266,456	V46F	possibly damaging	Het
Gna14	A	T	19: 16,533,764	H59L		Het
H2-Ab1	T	A	17: 34,267,989	I239N	probably damaging	Het
Ints7	T	C	1: 191,619,605	S809P	probably benign	Het
Itgb4	T	A	11: 116,005,565	Y1379*	probably null	Het
Kank1	A	G	19: 25,430,341	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,607,161	D846E	probably benign	Het
Lyst	A	G	13: 13,616,666	H38R	probably damaging	Het
Mc3r	T	C	2: 172,249,634	F259L	probably damaging	Het
Med25	A	G	7: 44,882,782	Y384H	probably damaging	Het
Met	A	T	6: 17,547,128		probably benign	Het
Mmp16	T	C	4: 18,116,148	V584A	possibly damaging	Het
Mpp5	T	A	12: 78,797,199	I59N	probably damaging	Het
Mrgprb3	A	G	7: 48,643,194	L203P	probably damaging	Het
Mus81	A	G	19: 5,486,080	L185P	probably damaging	Het
Naaa	A	G	5: 92,277,075	V75A	possibly damaging	Het
Obscn	T	A	11: 59,043,929	T5292S	probably damaging	Het
Obscn	T	C	11: 59,052,604	S4801G	probably damaging	Het
Olfr703	T	C	7: 106,845,336	S242P	probably damaging	Het
Otof	T	C	5: 30,381,538	D1112G	probably benign	Het
Pbx4	A	G	8: 69,864,875	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Plce1	A	T	19: 38,702,017	D715V	probably damaging	Het
Pms1	T	C	1: 53,207,611	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,374,267	D350G	probably damaging	Het
Prex1	A	G	2: 166,587,180	V661A	probably benign	Het
Ptbp2	A	G	3: 119,751,908	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,851,975	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,117,703	R75K	probably null	Het
Ryr3	T	A	2: 112,949,130	R259*	probably null	Het
Scai	A	T	2: 39,190,621	S8T	probably benign	Het
Scn4a	C	A	11: 106,320,900	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,847	K1035R	probably damaging	Het
Siah3	A	G	14: 75,525,585	H92R	probably benign	Het
Smc4	G	A	3: 69,018,195	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,700,324	C1330Y	possibly damaging	Het
St18	C	A	1: 6,803,036	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,898,934	E480D	possibly damaging	Het
Tex14	A	T	11: 87,497,915	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,064,077		probably null	Het
Tmem241	G	T	18: 12,113,406	H62Q	probably benign	Het
Tmem54	T	A	4: 129,110,801		probably null	Het
Tomm34	A	G	2: 164,070,478	L39P	probably damaging	Het
Triml2	T	A	8: 43,193,536	V354D	probably damaging	Het
Usp19	T	C	9: 108,496,958	I738T	possibly damaging	Het
Utrn	T	A	10: 12,826,770		probably null	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
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
R7869:Elac2	UTSW	11	64999387	missense	probably damaging	0.99
R8087:Elac2	UTSW	11	64979208	missense	probably benign	0.14
R8139:Elac2	UTSW	11	64980614	missense	probably benign	0.28
X0020:Elac2	UTSW	11	64987458	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTGCAGGGAAAGGAGTTCTG -3'
(R):5'- GGCCACACTATACTGTGATCAC -3'

Sequencing Primer
(F):5'- TTCGCACATGTGAACACCTGG -3'
(R):5'- TCACAGAAAGCCATGTGGTTGC -3'

Posted On

2019-05-13