Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:D3Ertd254e'

392405

Institutional Source

Beutler Lab

Gene Symbol

D3Ertd254e

Ensembl Gene

ENSMUSG00000033883

Gene Name

DNA segment, Chr 3, ERATO Doi 254, expressed

Synonyms

MMRRC Submission

042690-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36151017-36170342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36162665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 55 (C55Y)

Ref Sequence

ENSEMBL: ENSMUSP00000142829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165956] [ENSMUST00000197653] [ENSMUST00000205077]

AlphaFold

A0A0G2JEM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165956
AA Change: C54Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131779
Gene: ENSMUSG00000033883
AA Change: C54Y

Domain	Start	End	E-Value	Type
KRAB	3	63	2.91e-34	SMART
ZnF_C2H2	342	364	1.08e-1	SMART
ZnF_C2H2	395	417	1.56e-2	SMART
ZnF_C2H2	423	445	3.11e-2	SMART
ZnF_C2H2	451	473	5.9e-3	SMART
ZnF_C2H2	479	501	1.82e-3	SMART
ZnF_C2H2	507	529	5.21e-4	SMART
ZnF_C2H2	535	557	1.84e-4	SMART
ZnF_C2H2	563	585	1.95e-3	SMART
ZnF_C2H2	591	613	2.05e-2	SMART
ZnF_C2H2	619	641	1.6e-4	SMART
ZnF_C2H2	647	669	5.21e-4	SMART
ZnF_C2H2	675	697	1.69e-3	SMART
ZnF_C2H2	703	725	2.61e-4	SMART
ZnF_C2H2	731	753	1.12e-3	SMART
ZnF_C2H2	759	779	3.85e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197653
AA Change: C55Y

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142829
Gene: ENSMUSG00000033883
AA Change: C55Y

Domain	Start	End	E-Value	Type
KRAB	4	64	1.2e-36	SMART
ZnF_C2H2	343	365	4.4e-4	SMART
ZnF_C2H2	396	418	6.7e-5	SMART
ZnF_C2H2	424	446	1.3e-4	SMART
ZnF_C2H2	452	474	2.5e-5	SMART
ZnF_C2H2	480	502	7.9e-6	SMART
ZnF_C2H2	508	530	2.2e-6	SMART
ZnF_C2H2	536	558	7.7e-7	SMART
ZnF_C2H2	564	586	8e-6	SMART
ZnF_C2H2	592	614	8.9e-5	SMART
ZnF_C2H2	620	642	6.6e-7	SMART
ZnF_C2H2	648	670	2.2e-6	SMART
ZnF_C2H2	676	698	7.1e-6	SMART
ZnF_C2H2	704	726	1.1e-6	SMART
ZnF_C2H2	732	754	4.8e-6	SMART
ZnF_C2H2	760	780	1.6e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205077
AA Change: C23Y

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	A	G	5: 124,338,891	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778	R518C	probably damaging	Het
Apbb2	A	T	5: 66,312,249		probably null	Het
Arhgap45	C	T	10: 80,021,428	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986		probably benign	Het
Bmp4	T	C	14: 46,384,001	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,111,811	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180		probably null	Het
Dnajb5	G	A	4: 42,956,639	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970	N564K	probably damaging	Het
Fam234b	T	C	6: 135,209,284	S97P	probably benign	Het
Fam53b	G	A	7: 132,715,955	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977	K244Q	probably benign	Het
Gm12800	T	C	4: 101,909,239	F40S	probably damaging	Het
Golim4	A	G	3: 75,903,272	I192T	possibly damaging	Het
Gpr1	A	G	1: 63,183,167	V303A	probably damaging	Het
Gprin1	T	C	13: 54,739,763	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123		probably null	Het
Hmgcs2	T	C	3: 98,280,470		probably benign	Het
Ide	T	A	19: 37,314,984	I271L	unknown	Het
Kat8	G	A	7: 127,924,816	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423		probably null	Het
Lhx6	T	C	2: 36,094,210		probably null	Het
Lrp2	C	T	2: 69,489,158	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017		probably null	Het

Other mutations in D3Ertd254e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:D3Ertd254e	APN	3	36164580	missense	possibly damaging	0.86
IGL02089:D3Ertd254e	APN	3	36164728	missense	possibly damaging	0.53
IGL02162:D3Ertd254e	APN	3	36164061	missense	probably benign	0.18
R0243:D3Ertd254e	UTSW	3	36165154	missense	possibly damaging	0.47
R0512:D3Ertd254e	UTSW	3	36166113	missense	probably damaging	0.96
R0722:D3Ertd254e	UTSW	3	36165069	missense	probably benign	0.35
R0762:D3Ertd254e	UTSW	3	36165867	missense	possibly damaging	0.92
R0792:D3Ertd254e	UTSW	3	36164562	missense	probably benign	0.01
R0894:D3Ertd254e	UTSW	3	36164786	nonsense	probably null
R1731:D3Ertd254e	UTSW	3	36164471	missense	probably benign	0.18
R2098:D3Ertd254e	UTSW	3	36166140	missense	probably benign
R2099:D3Ertd254e	UTSW	3	36164212	missense	possibly damaging	0.86
R3709:D3Ertd254e	UTSW	3	36159576	missense	possibly damaging	0.71
R3808:D3Ertd254e	UTSW	3	36165643	splice site	probably null
R4035:D3Ertd254e	UTSW	3	36164840	missense	possibly damaging	0.53
R4288:D3Ertd254e	UTSW	3	36159598	missense	possibly damaging	0.71
R4289:D3Ertd254e	UTSW	3	36159598	missense	possibly damaging	0.71
R4959:D3Ertd254e	UTSW	3	36164136	missense	possibly damaging	0.91
R4973:D3Ertd254e	UTSW	3	36164136	missense	possibly damaging	0.91
R5462:D3Ertd254e	UTSW	3	36165820	missense	possibly damaging	0.95
R5548:D3Ertd254e	UTSW	3	36165491	missense	possibly damaging	0.90
R5782:D3Ertd254e	UTSW	3	36164979	missense	possibly damaging	0.73
R6153:D3Ertd254e	UTSW	3	36165154	missense	possibly damaging	0.47
R6225:D3Ertd254e	UTSW	3	36166203	missense	probably benign	0.18
R6602:D3Ertd254e	UTSW	3	36164855	missense	possibly damaging	0.86
R6785:D3Ertd254e	UTSW	3	36165452	nonsense	probably null
R7513:D3Ertd254e	UTSW	3	36164643	missense	possibly damaging	0.53
R7846:D3Ertd254e	UTSW	3	36165589	missense	probably benign	0.43
R8120:D3Ertd254e	UTSW	3	36164491	missense	possibly damaging	0.96
R8265:D3Ertd254e	UTSW	3	36159528	start gained	probably benign
R8415:D3Ertd254e	UTSW	3	36165033	missense	probably damaging	0.98
R8826:D3Ertd254e	UTSW	3	36164106	missense	possibly damaging	0.86
R9026:D3Ertd254e	UTSW	3	36164917	missense	possibly damaging	0.96
R9159:D3Ertd254e	UTSW	3	36165753	missense	possibly damaging	0.47
X0021:D3Ertd254e	UTSW	3	36164191	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TGTCTGTAGGGAAACAACAATTGG -3'
(R):5'- ACTGCAGGACAATGAGGCTC -3'

Sequencing Primer
(F):5'- AAACAACAATTGGAAAAGTAATGGTC -3'
(R):5'- ATGCCCTTCGGTGACAAAG -3'

Posted On

2016-06-15