Mutagenetix > Incidental Mutations

Incidental Mutation 'R7869:Elac2'

607991

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 #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64979038-65002069 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64999387 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 656 (K656E)

Ref Sequence

ENSEMBL: ENSMUSP00000071788 (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 damaging
Transcript: ENSMUST00000071891
AA Change: K656E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: K656E

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 damaging
Transcript: ENSMUST00000101049
AA Change: K656E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: K656E

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 damaging
Transcript: ENSMUST00000108697
AA Change: K655E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: K655E

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,184,135	R738C	possibly damaging	Het
Acot12	G	A	13: 91,771,725	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,873,703	T1356I	probably damaging	Het
Arhgap27	A	T	11: 103,360,304	N199K	probably damaging	Het
Asic2	T	C	11: 81,967,998	R63G	probably damaging	Het
Aspa	T	A	11: 73,313,552	M197L	probably benign	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Brdt	A	T	5: 107,370,179	I723L	probably benign	Het
C2cd3	T	A	7: 100,469,491	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,410,526	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,476,529	A80E	probably damaging	Het
Cep135	T	C	5: 76,640,956	V1132A	probably benign	Het
Cep85	A	G	4: 134,132,298	C687R	probably damaging	Het
Cln5	A	G	14: 103,076,065	Y251C	probably damaging	Het
Crygc	A	G	1: 65,071,855	M91T	possibly damaging	Het
Ddt	T	C	10: 75,773,226	K33R	probably damaging	Het
Dhfr	G	A	13: 92,357,963	W58*	probably null	Het
Dhx40	T	C	11: 86,797,706	E297G	probably benign	Het
Dner	T	C	1: 84,383,881	Y669C	probably benign	Het
Dpys	G	T	15: 39,793,386	F428L	probably damaging	Het
Dspp	A	C	5: 104,175,665	T225P	probably damaging	Het
Ern1	T	A	11: 106,459,019	R24*	probably null	Het
F2rl2	T	C	13: 95,701,011	I188T	probably damaging	Het
Fam83b	C	T	9: 76,492,144	C559Y	possibly damaging	Het
Fat1	T	G	8: 45,051,222	F4584C	probably benign	Het
Gabra6	G	A	11: 42,316,495	T254I	possibly damaging	Het
Garem1	T	C	18: 21,299,700	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,421,990	L832*	probably null	Het
Gpr68	C	T	12: 100,879,238	D16N	probably benign	Het
Il17b	T	C	18: 61,692,409	I172T	probably damaging	Het
Ildr2	T	G	1: 166,309,292	S567A	probably benign	Het
Kalrn	A	G	16: 33,988,847	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,184,376	S1627P	probably benign	Het
Kif5a	G	A	10: 127,243,474	T285M	probably damaging	Het
Lrif1	G	A	3: 106,733,143		probably null	Het
Lrrn2	C	T	1: 132,939,378	T727I	unknown	Het
Lsg1	T	C	16: 30,564,722	E560G	probably benign	Het
Map4k4	C	A	1: 39,974,044	Q100K	unknown	Het
Mipep	A	T	14: 60,802,936	R302W	probably damaging	Het
Morf4l1	G	T	9: 90,093,791	T316K	probably damaging	Het
Mov10	A	T	3: 104,804,678	V126E	probably damaging	Het
Muc2	T	A	7: 141,749,734	C559S		Het
Myh7	A	G	14: 54,989,073	Y410H	probably damaging	Het
Nf1	T	A	11: 79,418,588	Y433N	probably damaging	Het
Nmd3	T	C	3: 69,726,417	L79P	probably damaging	Het
Nol10	G	T	12: 17,358,238	S155I	probably null	Het
Olfr1208	T	C	2: 88,897,064	I178V	probably benign	Het
Olfr134	T	C	17: 38,175,939	L285P	possibly damaging	Het
Olfr1448	A	G	19: 12,919,547	I254T	probably benign	Het
Olfr668	T	A	7: 104,925,104	Y220F	probably damaging	Het
Pde3b	T	C	7: 114,494,687	S389P	probably benign	Het
Polr1c	C	T	17: 46,244,891	G188D	probably benign	Het
Prpf31	A	G	7: 3,630,860	M65V	probably benign	Het
Pum2	A	G	12: 8,713,595	T251A	probably benign	Het
Rabgap1	G	A	2: 37,487,130	V325I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017	Y203*	probably null	Het
Sac3d1	G	A	19: 6,118,426	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,240,251	I104V	probably benign	Het
Setd2	C	T	9: 110,550,014	Q966*	probably null	Het
Simc1	G	T	13: 54,503,900	D9Y	unknown	Het
Slc5a8	T	C	10: 88,921,705	L519S	probably benign	Het
Srcap	C	A	7: 127,539,194	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,147,736	L91P	probably damaging	Het
Stab1	T	C	14: 31,154,472	T887A	probably benign	Het
Sult2a6	A	G	7: 14,254,812	F8L	not run	Het
Thsd7a	A	T	6: 12,471,124	C498*	probably null	Het
Timp4	T	C	6: 115,250,394	I75V	probably benign	Het
Tspyl4	T	A	10: 34,298,100	M196K	probably damaging	Het
Ubr2	T	C	17: 46,991,008	E172G	probably benign	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Unc13c	T	G	9: 73,694,877	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,052,120	V489A	probably damaging	Het
Vps39	T	C	2: 120,339,394	T226A	possibly damaging	Het
Zan	C	T	5: 137,473,601	E185K	probably damaging	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
R7037:Elac2	UTSW	11	64983711	missense	probably benign
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'- ATTGGAAAGGCTGATAAGCTTG -3'
(R):5'- TCCTGTGATGTGTCCTCAGG -3'

Sequencing Primer
(F):5'- AAGCTTGCTGTTGGAAACATGTGAC -3'
(R):5'- TCCTCAGGACAACAACCAGGAG -3'

Posted On

2019-12-20