Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Elac2'

533287

Institutional Source

Beutler Lab

Gene Symbol

Elac2

Ensembl Gene

ENSMUSG00000020549

Gene Name

elaC ribonuclease Z 2

Synonyms

tRNase Z(L), D11Wsu80e, 1110017O07Rik

MMRRC Submission

044913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64869864-64892895 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 64890265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104337 (fasta)

Gene Model

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

AlphaFold

Q80Y81

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 null
Transcript: ENSMUST00000071891

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549

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 null
Transcript: ENSMUST00000071891

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549

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 null
Transcript: ENSMUST00000101049

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549

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 null
Transcript: ENSMUST00000101049

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549

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 null
Transcript: ENSMUST00000108697

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549

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 null
Transcript: ENSMUST00000108697

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 60,992,948 (GRCm39)	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 127,836,742 (GRCm39)		probably benign	Het
Acoxl	A	T	2: 127,852,085 (GRCm39)	Q129L	probably damaging	Het
Akna	T	C	4: 63,316,268 (GRCm39)	T32A	probably benign	Het
Alox15	C	T	11: 70,235,645 (GRCm39)		probably null	Het
Antxrl	T	C	14: 33,787,864 (GRCm39)	S296P	probably damaging	Het
Arrb2	G	T	11: 70,328,142 (GRCm39)	G52*	probably null	Het
Bltp2	T	C	11: 78,179,105 (GRCm39)	F2091S	probably benign	Het
Capn2	A	T	1: 182,309,045 (GRCm39)	I499N	probably damaging	Het
Cfhr4	T	A	1: 139,629,719 (GRCm39)	D683V	possibly damaging	Het
Cspg4b	T	A	13: 113,504,686 (GRCm39)	D396E	probably benign	Het
Cubn	T	A	2: 13,326,066 (GRCm39)	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,536,965 (GRCm39)	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,316,467 (GRCm39)	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,379,377 (GRCm39)	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 65,963,565 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,433,029 (GRCm39)		probably null	Het
Espnl	T	C	1: 91,270,351 (GRCm39)	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,422,898 (GRCm39)		probably benign	Het
Fdps	A	C	3: 89,008,068 (GRCm39)	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,346,898 (GRCm39)	I576T	possibly damaging	Het
Gm20939	A	G	17: 95,184,657 (GRCm39)	E435G	possibly damaging	Het
Hivep1	G	A	13: 42,310,852 (GRCm39)	V1031I	probably damaging	Het
Hydin	T	G	8: 111,324,603 (GRCm39)	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,273,157 (GRCm39)		probably benign	Het
Iqgap1	G	T	7: 80,378,729 (GRCm39)	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,443,233 (GRCm39)	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,017,326 (GRCm39)	*1373W	probably null	Het
Mia2	G	A	12: 59,235,332 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,156,896 (GRCm39)	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,371 (GRCm39)	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,169,367 (GRCm39)	V17A	probably benign	Het
Neurod4	A	T	10: 130,106,661 (GRCm39)	Y204*	probably null	Het
Or2n1	A	G	17: 38,486,013 (GRCm39)	I13V	probably benign	Het
Or56a42-ps1	A	T	7: 104,776,217 (GRCm39)	V97E	probably benign	Het
Or5p67	G	A	7: 107,922,460 (GRCm39)	T141I	probably benign	Het
Or6c66b	A	T	10: 129,377,132 (GRCm39)	H242L	probably damaging	Het
Pate2	T	C	9: 35,596,941 (GRCm39)		probably benign	Het
Pcdhgb8	G	A	18: 37,896,580 (GRCm39)	R550Q	probably benign	Het
Phldb3	T	C	7: 24,323,577 (GRCm39)	L437P	possibly damaging	Het
Pianp	C	A	6: 124,978,565 (GRCm39)	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,584,287 (GRCm39)	H140Q	possibly damaging	Het
Rfx2	A	G	17: 57,087,804 (GRCm39)	I529T	probably damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Rp1l1	T	C	14: 64,268,599 (GRCm39)	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,519,035 (GRCm39)	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtel1	C	A	2: 180,964,256 (GRCm39)	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,710,967 (GRCm39)	N99S	probably damaging	Het
Ryr1	C	T	7: 28,723,741 (GRCm39)	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,437,894 (GRCm39)	V71A	probably benign	Het
Sgip1	A	G	4: 102,778,225 (GRCm39)		probably benign	Het
Slc12a4	G	A	8: 106,676,371 (GRCm39)	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Strbp	C	T	2: 37,515,228 (GRCm39)	R266Q	probably damaging	Het
Strn	G	T	17: 78,977,787 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,118,264 (GRCm39)	V55L	probably benign	Het
Tmem178b	A	T	6: 40,231,858 (GRCm39)	Q164L	unknown	Het
Tmprss6	C	T	15: 78,324,457 (GRCm39)	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,770,268 (GRCm39)	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,038,994 (GRCm39)		probably null	Het
Vmn2r51	T	C	7: 9,832,191 (GRCm39)	D465G	probably damaging	Het
Vmp1	A	C	11: 86,556,913 (GRCm39)		probably null	Het
Wdcp	T	C	12: 4,901,358 (GRCm39)	F405L	probably damaging	Het
Zfhx3	A	T	8: 109,676,149 (GRCm39)	T2400S	probably benign	Het
Zfp27	T	C	7: 29,593,860 (GRCm39)	T702A	probably benign	Het
Zfp87	T	C	13: 74,520,080 (GRCm39)	S333G	probably benign	Het

Other mutations in Elac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00664:Elac2	APN	11	64,871,476 (GRCm39)	missense	possibly damaging	0.92
IGL02035:Elac2	APN	11	64,892,661 (GRCm39)	missense	probably benign
IGL02407:Elac2	APN	11	64,890,001 (GRCm39)	missense	probably benign	0.01
R0329:Elac2	UTSW	11	64,870,136 (GRCm39)	missense	probably damaging	1.00
R0360:Elac2	UTSW	11	64,870,136 (GRCm39)	missense	probably damaging	1.00
R0364:Elac2	UTSW	11	64,870,136 (GRCm39)	missense	probably damaging	1.00
R0526:Elac2	UTSW	11	64,890,262 (GRCm39)	missense	probably benign	0.07
R0729:Elac2	UTSW	11	64,889,349 (GRCm39)	missense	possibly damaging	0.62
R1912:Elac2	UTSW	11	64,885,089 (GRCm39)	missense	probably benign
R1929:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign	0.00
R2345:Elac2	UTSW	11	64,891,900 (GRCm39)	missense	probably damaging	0.99
R4765:Elac2	UTSW	11	64,883,048 (GRCm39)	missense	probably damaging	1.00
R4828:Elac2	UTSW	11	64,886,153 (GRCm39)	missense	probably damaging	1.00
R5000:Elac2	UTSW	11	64,876,379 (GRCm39)	missense	probably benign
R5109:Elac2	UTSW	11	64,883,142 (GRCm39)	missense	probably damaging	1.00
R5391:Elac2	UTSW	11	64,885,120 (GRCm39)	missense	probably benign
R5865:Elac2	UTSW	11	64,888,783 (GRCm39)	missense	probably benign	0.39
R5953:Elac2	UTSW	11	64,890,049 (GRCm39)	missense	probably benign	0.00
R6829:Elac2	UTSW	11	64,880,190 (GRCm39)	missense	probably benign
R6870:Elac2	UTSW	11	64,890,589 (GRCm39)	missense	probably null	1.00
R7037:Elac2	UTSW	11	64,874,537 (GRCm39)	missense	probably benign
R7869:Elac2	UTSW	11	64,890,213 (GRCm39)	missense	probably damaging	0.99
R8087:Elac2	UTSW	11	64,870,034 (GRCm39)	missense	probably benign	0.14
R8139:Elac2	UTSW	11	64,871,440 (GRCm39)	missense	probably benign	0.28
R8559:Elac2	UTSW	11	64,872,502 (GRCm39)	critical splice donor site	probably null
R9197:Elac2	UTSW	11	64,892,682 (GRCm39)	missense	probably benign
R9211:Elac2	UTSW	11	64,869,864 (GRCm39)	unclassified	probably benign
R9291:Elac2	UTSW	11	64,883,142 (GRCm39)	missense	probably damaging	1.00
X0020:Elac2	UTSW	11	64,878,284 (GRCm39)	missense	probably damaging	0.96
Z1186:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign
Z1187:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign
Z1188:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign
Z1189:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign
Z1190:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign
Z1191:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign
Z1192:Elac2	UTSW	11	64,870,015 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGCTGTTGGAAACATGTGAC -3'
(R):5'- CCAAATACTCAGCTCTCTCGG -3'

Sequencing Primer
(F):5'- CTGTTGGAAACATGTGACTTAGAAG -3'
(R):5'- AGCTCTCTCGGTCCTGTGATG -3'

Posted On

2018-09-12