Mutagenetix > Incidental Mutation

Incidental Mutation 'R8087:Elac2'

629731

Institutional Source

Beutler Lab

Gene Symbol

Elac2

Ensembl Gene

ENSMUSG00000020549

Gene Name

elaC ribonuclease Z 2

Synonyms

tRNase Z(L), D11Wsu80e, 1110017O07Rik

MMRRC Submission

067520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8087 (G1)

Quality Score

167.009

Status

Not validated

Chromosome

Chromosomal Location

64869864-64892895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64870034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 33 (H33R)

Ref Sequence

ENSEMBL: ENSMUSP00000071788 (fasta)

Gene Model

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

AlphaFold

Q80Y81

Predicted Effect

probably benign
Transcript: ENSMUST00000071891
AA Change: H33R

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: H33R

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: H33R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: H33R

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: H33R

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: H33R

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	G	7: 126,430,052 (GRCm39)	V73A	possibly damaging	Het
Abcg1	T	C	17: 31,283,459 (GRCm39)	L48P	probably benign	Het
Ablim1	A	G	19: 57,170,688 (GRCm39)	W18R		Het
Acss1	A	G	2: 150,484,668 (GRCm39)	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,168,324 (GRCm39)	N769S	probably benign	Het
BC004004	T	A	17: 29,513,064 (GRCm39)	L163I	probably damaging	Het
Bco1	A	T	8: 117,835,501 (GRCm39)	T151S	possibly damaging	Het
Btbd8	T	A	5: 107,632,953 (GRCm39)	Y264N	probably damaging	Het
C1ra	G	A	6: 124,490,831 (GRCm39)	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380 (GRCm38)	W527G	probably damaging	Het
Calca	T	C	7: 114,231,809 (GRCm39)	N85D	probably benign	Het
Capn13	A	G	17: 73,623,279 (GRCm39)	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,788,705 (GRCm39)	I381V	probably benign	Het
Ccr1	A	G	9: 123,764,371 (GRCm39)	V53A	probably benign	Het
Cd27	G	T	6: 125,210,325 (GRCm39)	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,188,532 (GRCm39)	V46E	probably damaging	Het
Cspp1	T	G	1: 10,174,489 (GRCm39)	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,441,220 (GRCm39)	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,402,706 (GRCm39)	S3279T	probably benign	Het
Ddx11	T	A	17: 66,456,988 (GRCm39)	Y772N	probably damaging	Het
Dennd11	T	A	6: 40,395,526 (GRCm39)	D194V	possibly damaging	Het
Dgkd	T	A	1: 87,844,569 (GRCm39)	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,840,379 (GRCm39)	T270I	possibly damaging	Het
Emilin1	T	A	5: 31,074,444 (GRCm39)	D228E	probably damaging	Het
F2rl1	A	G	13: 95,650,507 (GRCm39)	L125P	probably damaging	Het
Fam186a	A	G	15: 99,839,725 (GRCm39)	V2173A	possibly damaging	Het
Foxp4	C	A	17: 48,215,355 (GRCm39)	G30C	probably damaging	Het
Fyn	T	A	10: 39,405,553 (GRCm39)	L273*	probably null	Het
Garnl3	G	T	2: 32,935,548 (GRCm39)	D196E	probably benign	Het
Glb1	A	T	9: 114,259,483 (GRCm39)	T220S	probably damaging	Het
Hsdl2	G	T	4: 59,592,228 (GRCm39)	A31S	unknown	Het
Irak3	T	A	10: 120,018,440 (GRCm39)	I103F	probably benign	Het
Khdrbs2	A	T	1: 32,454,057 (GRCm39)	M148L	probably benign	Het
Kif2c	A	T	4: 117,022,615 (GRCm39)	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,534,250 (GRCm39)	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,278,473 (GRCm39)	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,381,002 (GRCm39)	I39L	probably benign	Het
Muc13	G	T	16: 33,619,397 (GRCm39)	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,062,897 (GRCm39)	I721N	probably benign	Het
Ntsr1	A	T	2: 180,141,965 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,212 (GRCm39)		probably null	Het
Or2h2c	T	C	17: 37,422,440 (GRCm39)	I145V	probably benign	Het
Ovol3	A	C	7: 29,933,797 (GRCm39)	D108E	probably damaging	Het
Pcdhb4	C	A	18: 37,441,717 (GRCm39)	N342K	probably damaging	Het
Pcgf3	A	G	5: 108,634,102 (GRCm39)	D120G	probably benign	Het
Pde6b	T	C	5: 108,536,328 (GRCm39)	V8A	probably benign	Het
Pkhd1	G	T	1: 20,593,313 (GRCm39)	T1600K	probably damaging	Het
Pkp3	A	G	7: 140,667,551 (GRCm39)	I451V	possibly damaging	Het
Plce1	A	G	19: 38,724,965 (GRCm39)	T1439A	probably damaging	Het
Prr27	C	A	5: 87,994,168 (GRCm39)	N347K	probably benign	Het
Prss41	T	C	17: 24,056,076 (GRCm39)	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,369,248 (GRCm39)	I457V	probably benign	Het
Rspry1	G	A	8: 95,380,925 (GRCm39)	V534M	probably benign	Het
Rxrb	T	C	17: 34,254,763 (GRCm39)	V306A	probably benign	Het
Sim1	T	C	10: 50,785,651 (GRCm39)	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,886,887 (GRCm39)	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,643,747 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,375,698 (GRCm39)	M993T	probably benign	Het
Sstr2	G	A	11: 113,515,501 (GRCm39)	R140H	probably damaging	Het
Syne1	C	T	10: 5,283,034 (GRCm39)	R1553Q	probably benign	Het
Tchp	T	C	5: 114,857,665 (GRCm39)	I386T	probably damaging	Het
Tmem273	G	T	14: 32,507,926 (GRCm39)		probably benign	Het
Traf7	G	T	17: 24,731,038 (GRCm39)	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,155,957 (GRCm39)	L798F	probably damaging	Het
Ttc3	C	T	16: 94,243,812 (GRCm39)	P1272L	probably benign	Het
Ttf2	G	T	3: 100,871,412 (GRCm39)	A83E	probably damaging	Het
Uba3	T	A	6: 97,162,344 (GRCm39)	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,550,550 (GRCm39)		probably null	Het
Ulk4	A	G	9: 121,095,317 (GRCm39)	L112P	probably damaging	Het
Unc5a	A	G	13: 55,143,985 (GRCm39)	N150S	probably damaging	Het
Vac14	A	T	8: 111,446,532 (GRCm39)	K760N	probably benign	Het
Vmn2r113	A	T	17: 23,177,711 (GRCm39)	I832L	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,697,094 (GRCm39)	Y717F	probably benign	Het
Xpot	T	C	10: 121,437,232 (GRCm39)	I830V	probably benign	Het
Zfp101	G	A	17: 33,599,977 (GRCm39)	T593I	probably benign	Het
Zfp54	A	C	17: 21,655,260 (GRCm39)	T585P	probably damaging	Het
Zfp663	T	C	2: 165,195,679 (GRCm39)	D180G	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
R6800:Elac2	UTSW	11	64,890,265 (GRCm39)	critical splice donor site	probably null
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
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'- ATTGGTCAGTTCCGCCATG -3'
(R):5'- AGCCATGCTGACTAAGGGAG -3'

Sequencing Primer
(F):5'- CTTGTCAGCCTGGTGTGGTC -3'
(R):5'- CAGGATTGGACAGGAGGCCTC -3'

Posted On

2020-06-30