Mutagenetix > Incidental Mutation

Incidental Mutation 'R4943:Aen'

383266

Institutional Source

Beutler Lab

Gene Symbol

Aen

Ensembl Gene

ENSMUSG00000030609

Gene Name

apoptosis enhancing nuclease

Synonyms

Isg20l1, 2700083B06Rik

MMRRC Submission

042540-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78895854-78911209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78902361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 23 (V23E)

Ref Sequence

ENSEMBL: ENSMUSP00000103048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107421] [ENSMUST00000107423] [ENSMUST00000107425] [ENSMUST00000138167] [ENSMUST00000205861] [ENSMUST00000205882]

AlphaFold

Q9CZI9

Predicted Effect

probably benign
Transcript: ENSMUST00000107421

SMART Domains

Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
EXOIII	70	236	2.04e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107423
AA Change: V23E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: V23E

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
EXOIII	108	274	2.04e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107425
AA Change: V23E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: V23E

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
EXOIII	108	274	2.04e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123824

Predicted Effect

probably benign
Transcript: ENSMUST00000138167

SMART Domains

Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
Pfam:RNase_T	72	138	1.9e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172017

Predicted Effect

probably benign
Transcript: ENSMUST00000205861

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205882
AA Change: V23E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206661

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,245,327	T366K	possibly damaging	Het
2510039O18Rik	T	A	4: 147,945,098	H508Q	probably damaging	Het
Actl9	G	A	17: 33,433,085	V40M	possibly damaging	Het
Agbl1	G	A	7: 76,420,016	R432K	probably benign	Het
Akap13	T	A	7: 75,749,240	F2689I	probably benign	Het
Arhgap45	A	G	10: 80,026,503	S475G	probably benign	Het
Atg7	A	C	6: 114,697,084	Q231P	probably benign	Het
Calr3	A	T	8: 72,431,377	V226D	probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cops4	A	T	5: 100,547,426	M404L	probably benign	Het
Cpne4	A	T	9: 105,019,773	H375L	probably damaging	Het
D16Ertd472e	A	T	16: 78,575,989	V20D	probably damaging	Het
Dcun1d5	T	C	9: 7,186,844	F55L	possibly damaging	Het
Dhx8	T	A	11: 101,737,700	L93*	probably null	Het
Dtx4	A	G	19: 12,501,060	L53P	probably damaging	Het
Ern2	C	T	7: 122,173,258	R659H	possibly damaging	Het
Etl4	G	A	2: 20,807,281	A1392T	probably benign	Het
Fat2	T	C	11: 55,279,033	R2967G	probably benign	Het
Fat4	A	G	3: 38,980,173	D2658G	probably benign	Het
Ftsj3	A	G	11: 106,249,518	V808A	probably damaging	Het
Gm10447	A	T	11: 53,456,389	Y104*	probably null	Het
Gm27013	A	T	6: 130,676,200	C766*	probably null	Het
Gm438	T	A	4: 144,777,720	E287V	probably benign	Het
Gm5581	A	G	6: 131,167,125		noncoding transcript	Het
Gpr158	G	A	2: 21,827,157	V1023I	probably damaging	Het
Hectd2	T	G	19: 36,604,247		probably null	Het
Hmcn2	T	C	2: 31,335,492	Y138H	probably damaging	Het
Kif28	T	C	1: 179,713,951	I369V	probably benign	Het
Kif4-ps	C	T	12: 101,149,217		noncoding transcript	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Map3k20	G	A	2: 72,371,918	M164I	possibly damaging	Het
Map4k4	A	G	1: 40,019,594	I1050V	probably damaging	Het
Med23	T	A	10: 24,875,669	V133D	possibly damaging	Het
Mycn	A	T	12: 12,937,079	L439Q	probably damaging	Het
Myh2	G	T	11: 67,197,317	A1920S	probably damaging	Het
Myom3	T	C	4: 135,814,274	V1392A	possibly damaging	Het
Nktr	T	A	9: 121,719,954		probably benign	Het
Nme3	A	G	17: 24,896,723	K48E	probably damaging	Het
Nt5dc1	T	C	10: 34,310,391	R58G	probably damaging	Het
Nup205	A	G	6: 35,224,639	E1270G	probably damaging	Het
Olfr106-ps	G	T	17: 37,395,025	A162S	probably benign	Het
Olfr1509	C	G	14: 52,450,594	Y60*	probably null	Het
Olfr630	A	T	7: 103,755,296	F96L	probably benign	Het
Olfr898	C	T	9: 38,349,628	H176Y	probably damaging	Het
Pclo	T	C	5: 14,712,637	L3708P	unknown	Het
Pde4dip	A	T	3: 97,755,511	N590K	probably damaging	Het
Prokr1	A	C	6: 87,581,824	I193S	possibly damaging	Het
Pxdc1	C	A	13: 34,639,006		probably null	Het
Rapgef2	A	T	3: 79,064,547	S1494T	probably benign	Het
Rbms3	G	C	9: 116,678,505		probably benign	Het
Reep3	T	A	10: 67,096,263		probably benign	Het
Rwdd2b	T	C	16: 87,434,534	K244R	possibly damaging	Het
Srrm2	T	C	17: 23,822,415	V2533A	possibly damaging	Het
Stab2	T	C	10: 86,954,162	Y580C	probably damaging	Het
Stac2	G	T	11: 98,041,572	S198R	probably benign	Het
Tdp2	T	A	13: 24,838,265	N222K	probably benign	Het
Tex21	A	G	12: 76,221,700	S103P	probably damaging	Het
Thbs1	A	T	2: 118,113,449	I183F	probably damaging	Het
Tm9sf1	T	C	14: 55,641,168	I256V	probably damaging	Het
Tmem207	C	T	16: 26,517,853	W50*	probably null	Het
Trpm2	C	A	10: 77,966,007	V75L	probably damaging	Het
Vmn1r227	A	T	17: 20,735,361		noncoding transcript	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r75	A	T	7: 86,165,497	S263T	probably damaging	Het
Wdr64	G	A	1: 175,720,316	V140I	probably benign	Het
Xpo4	T	C	14: 57,638,240	I145M	possibly damaging	Het
Zan	G	A	5: 137,457,890	T1336I	unknown	Het
Zdbf2	G	T	1: 63,302,914	V151F	possibly damaging	Het
Zfhx3	T	C	8: 108,948,317	S2000P	probably damaging	Het
Zfp65	T	A	13: 67,710,980	I12F	probably damaging	Het
Zfp703	C	A	8: 26,979,591	Q428K	probably benign	Het
Zfp947	A	C	17: 22,145,832	M287R	probably benign	Het
Zfp976	A	T	7: 42,612,422		probably benign	Het

Other mutations in Aen

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01062:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01065:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01067:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01068:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01069:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01070:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01086:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01089:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01126:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01128:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01133:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01134:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01147:Aen	APN	7	78907302	missense	probably damaging	0.96
R1433:Aen	UTSW	7	78907312	missense	probably damaging	1.00
R1543:Aen	UTSW	7	78902622	missense	probably damaging	1.00
R1615:Aen	UTSW	7	78905912	missense	probably damaging	1.00
R1886:Aen	UTSW	7	78907325	missense	probably damaging	0.98
R1887:Aen	UTSW	7	78907325	missense	probably damaging	0.98
R1918:Aen	UTSW	7	78906029	missense	possibly damaging	0.96
R1919:Aen	UTSW	7	78905912	missense	probably damaging	1.00
R1946:Aen	UTSW	7	78902672	missense	probably damaging	1.00
R2192:Aen	UTSW	7	78906045	critical splice donor site	probably null
R2224:Aen	UTSW	7	78902451	missense	probably benign	0.30
R2225:Aen	UTSW	7	78902451	missense	probably benign	0.30
R2226:Aen	UTSW	7	78902451	missense	probably benign	0.30
R2244:Aen	UTSW	7	78907297	missense	probably damaging	1.00
R2516:Aen	UTSW	7	78905868	missense	probably damaging	1.00
R5634:Aen	UTSW	7	78902507	missense	probably benign	0.01
R5834:Aen	UTSW	7	78907301	missense	probably damaging	1.00
R5961:Aen	UTSW	7	78907159	missense	probably damaging	1.00
R6130:Aen	UTSW	7	78902639	splice site	probably null
R6255:Aen	UTSW	7	78905844	missense	probably damaging	1.00
R6400:Aen	UTSW	7	78907394	missense	probably benign	0.02
R7303:Aen	UTSW	7	78902456	missense	possibly damaging	0.77
R8207:Aen	UTSW	7	78902743	missense	possibly damaging	0.55
R8476:Aen	UTSW	7	78907199	missense	probably damaging	1.00
R9230:Aen	UTSW	7	78902359	missense	probably damaging	0.96
Z1177:Aen	UTSW	7	78902766	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAAGGTGTGAGTTTCAGTCAGG -3'
(R):5'- TTTGCTGCACAGGCCATTG -3'

Sequencing Primer
(F):5'- CAGTCAGGTGCTTGGGGATGAG -3'
(R):5'- CTTGGGACGTTGCCTCCTG -3'

Posted On

2016-04-27