Mutagenetix > Incidental Mutation

Incidental Mutation 'R8139:Elac2'

632429

Institutional Source

Beutler Lab

Gene Symbol

Elac2

Ensembl Gene

ENSMUSG00000020549

Gene Name

elaC ribonuclease Z 2

Synonyms

tRNase Z(L), D11Wsu80e, 1110017O07Rik

MMRRC Submission

067567-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8139 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

64869864-64892895 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64871440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000071788 (fasta)

Gene Model

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

AlphaFold

Q80Y81

Predicted Effect

probably benign
Transcript: ENSMUST00000071891
AA Change: I117T

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071788
Gene: ENSMUSG00000020549
AA Change: I117T

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: I117T

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000098610
Gene: ENSMUSG00000020549
AA Change: I117T

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: I117T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104337
Gene: ENSMUSG00000020549
AA Change: I117T

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

Meta Mutation Damage Score

0.2720

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

100% (84/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	T	X: 69,438,120 (GRCm39)	Q58K	possibly damaging	Het
Aamdc	T	C	7: 97,214,450 (GRCm39)	M42V	probably benign	Het
Abca6	T	A	11: 110,074,959 (GRCm39)	Q1368L	probably damaging	Het
Best3	G	A	10: 116,840,331 (GRCm39)	G254R	probably damaging	Het
Cacna1h	A	T	17: 25,602,697 (GRCm39)	I1478N	probably damaging	Het
Ccdc113	T	A	8: 96,285,366 (GRCm39)	M350K	possibly damaging	Het
Cdc42bpa	A	T	1: 179,896,884 (GRCm39)	H389L	probably damaging	Het
Cnn3	G	T	3: 121,248,718 (GRCm39)	M208I	probably damaging	Het
Col11a1	A	G	3: 113,890,698 (GRCm39)	D345G	unknown	Het
Degs1l	A	G	1: 180,882,358 (GRCm39)	D40G	probably damaging	Het
Dnah14	G	T	1: 181,582,853 (GRCm39)	V3131F	probably damaging	Het
Dst	T	A	1: 34,230,933 (GRCm39)	M2842K	probably benign	Het
Dus3l	C	T	17: 57,074,058 (GRCm39)	Q211*	probably null	Het
Eftud2	A	G	11: 102,758,685 (GRCm39)	F171S	probably benign	Het
Fam13b	A	G	18: 34,606,686 (GRCm39)	C302R	possibly damaging	Het
Fbxl5	G	A	5: 43,916,087 (GRCm39)	Q442*	probably null	Het
Fhdc1	A	G	3: 84,358,790 (GRCm39)	S370P	probably damaging	Het
Gtf3c6	T	C	10: 40,133,469 (GRCm39)		probably null	Het
I830077J02Rik	A	G	3: 105,835,314 (GRCm39)	V21A	probably benign	Het
Inf2	G	T	12: 112,568,074 (GRCm39)	E209*	probably null	Het
Irag1	A	G	7: 110,498,879 (GRCm39)		probably null	Het
Irs1	A	T	1: 82,267,460 (GRCm39)	M252K	probably damaging	Het
Kcng3	C	A	17: 83,938,516 (GRCm39)	V178L	probably damaging	Het
Kif16b	A	C	2: 142,743,285 (GRCm39)	S3A	probably benign	Het
Kit	T	C	5: 75,813,465 (GRCm39)	M884T	probably damaging	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Kptn	T	C	7: 15,857,901 (GRCm39)	I243T	probably benign	Het
Loxhd1	G	A	18: 77,468,192 (GRCm39)	E947K	possibly damaging	Het
Lyl1	A	T	8: 85,429,476 (GRCm39)	I62L	probably damaging	Het
Mmp24	C	T	2: 155,655,965 (GRCm39)	R468*	probably null	Het
Mtx2	G	A	2: 74,706,714 (GRCm39)	D230N	probably benign	Het
Ndufa5	A	T	6: 24,522,757 (GRCm39)	Y28*	probably null	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Nrxn3	A	G	12: 90,171,438 (GRCm39)	N923S	probably benign	Het
Ogfod2	C	T	5: 124,251,538 (GRCm39)	T116M	possibly damaging	Het
Oosp1	T	C	19: 11,645,118 (GRCm39)	E182G	possibly damaging	Het
Or4c115	A	G	2: 88,928,187 (GRCm39)	V28A	probably benign	Het
Or5p67	T	A	7: 107,922,113 (GRCm39)	T257S	probably benign	Het
Or7g20	A	T	9: 18,946,871 (GRCm39)	I151F	probably benign	Het
Or7g28	A	C	9: 19,272,504 (GRCm39)	V49G	probably damaging	Het
Oxnad1	C	A	14: 31,814,048 (GRCm39)	T47K	possibly damaging	Het
Pcdha5	A	G	18: 37,095,791 (GRCm39)	M767V	possibly damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pde4dip	G	T	3: 97,604,309 (GRCm39)	Q2224K	probably benign	Het
Pgr	A	T	9: 8,956,341 (GRCm39)	H763L	possibly damaging	Het
Plec	T	C	15: 76,058,510 (GRCm39)	D3809G	probably damaging	Het
Ppfia1	A	G	7: 144,074,430 (GRCm39)	S155P	probably damaging	Het
Ppfia4	A	G	1: 134,228,266 (GRCm39)	V1090A	probably benign	Het
Ptgdr	T	C	14: 45,096,142 (GRCm39)	E190G	probably benign	Het
Rhbdd2	T	A	5: 135,665,189 (GRCm39)	C173*	probably null	Het
Rhobtb1	C	A	10: 69,102,120 (GRCm39)	P134T	probably damaging	Het
Slc25a36	A	T	9: 96,962,505 (GRCm39)	F161L	probably benign	Het
Slc5a11	A	G	7: 122,869,199 (GRCm39)	T596A	probably benign	Het
Slco1a6	T	C	6: 142,035,626 (GRCm39)	Y566C	probably damaging	Het
Snx15	T	G	19: 6,169,945 (GRCm39)	K321T	probably damaging	Het
Snx15	T	C	19: 6,169,946 (GRCm39)	K321E	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Syt8	T	C	7: 141,992,005 (GRCm39)	I32T	probably benign	Het
Thumpd1	T	C	7: 119,319,808 (GRCm39)	N53D	possibly damaging	Het
Timm21	T	C	18: 84,969,263 (GRCm39)	T54A	probably benign	Het
Tmed10	A	G	12: 85,391,091 (GRCm39)	V149A	probably damaging	Het
Tmem108	T	A	9: 103,377,084 (GRCm39)	M122L	probably benign	Het
Tram1l1	A	G	3: 124,115,436 (GRCm39)	I199V	probably benign	Het
Tspan8	A	G	10: 115,675,802 (GRCm39)	N156S	probably benign	Het
Vamp9	A	G	5: 100,072,785 (GRCm39)	I111V	probably benign	Het
Vars1	T	C	17: 35,230,480 (GRCm39)	V521A	probably benign	Het
Vmn2r54	G	T	7: 12,349,743 (GRCm39)	T613N	possibly damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Vps33a	T	C	5: 123,672,015 (GRCm39)	K451R	probably benign	Het
Vsig10l	T	C	7: 43,113,153 (GRCm39)	I35T	probably benign	Het
Xpnpep3	T	A	15: 81,332,660 (GRCm39)	L399Q	probably damaging	Het
Zfp438	T	C	18: 5,214,013 (GRCm39)	E315G	probably benign	Het
Zfp467	C	T	6: 48,416,268 (GRCm39)	G128D	probably damaging	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
R8087:Elac2	UTSW	11	64,870,034 (GRCm39)	missense	probably benign	0.14
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'- TCTGATGCATGGTTAGATCAATGC -3'
(R):5'- GAGATGTGTTTAACTCCACTACCTG -3'

Sequencing Primer
(F):5'- AGTTGCTTATACCCTAGAACAGG -3'
(R):5'- CTACCTGTTATCCTTGAGGGCAGAAG -3'

Posted On

2020-06-30