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

Essential gene?

Probably non essential (E-score: 0.104) 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 (GRCm38)	N83D	probably damaging	Het
Aox4	C	T	1: 58,240,778 (GRCm38)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,312,249 (GRCm38)		probably null	Het
Arhgap45	C	T	10: 80,021,428 (GRCm38)	P254S	probably benign	Het
Arl4c	T	C	1: 88,701,600 (GRCm38)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,400,955 (GRCm38)	T1142A	probably benign	Het
BC035044	T	C	6: 128,884,986 (GRCm38)		probably benign	Het
Bmp4	T	C	14: 46,384,001 (GRCm38)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,487,913 (GRCm38)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,885 (GRCm38)	T401S	probably benign	Het
Cps1	A	T	1: 67,206,793 (GRCm38)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,997,836 (GRCm38)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,810,702 (GRCm38)	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,111,811 (GRCm38)	I319F	unknown	Het
Dchs1	A	T	7: 105,772,177 (GRCm38)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,640,861 (GRCm38)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm38)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm38)	D109N	possibly damaging	Het
Dner	A	T	1: 84,405,970 (GRCm38)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,209,284 (GRCm38)	S97P	probably benign	Het
Fam53b	G	A	7: 132,715,955 (GRCm38)	R60*	probably null	Het
Fmo3	T	G	1: 162,963,977 (GRCm38)	K244Q	probably benign	Het
Gm12800	T	C	4: 101,909,239 (GRCm38)	F40S	probably damaging	Het
Golim4	A	G	3: 75,903,272 (GRCm38)	I192T	possibly damaging	Het
Gpr1	A	G	1: 63,183,167 (GRCm38)	V303A	probably damaging	Het
Gprin1	T	C	13: 54,739,763 (GRCm38)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,003,626 (GRCm38)	V443D	probably damaging	Het
H2afy	C	G	13: 56,096,123 (GRCm38)		probably null	Het
Hmgcs2	T	C	3: 98,280,470 (GRCm38)		probably benign	Het
Ide	T	A	19: 37,314,984 (GRCm38)	I271L	unknown	Het
Kat8	G	A	7: 127,924,816 (GRCm38)	E343K	probably damaging	Het
Kif14	A	G	1: 136,516,403 (GRCm38)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,201,423 (GRCm38)		probably null	Het
Lhx6	T	C	2: 36,094,210 (GRCm38)		probably null	Het
Lrp2	C	T	2: 69,489,158 (GRCm38)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,659,304 (GRCm38)	K142R	probably damaging	Het
Mrpl2	G	A	17: 46,650,038 (GRCm38)	R286Q	probably benign	Het
Nacad	T	A	11: 6,598,528 (GRCm38)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,298,105 (GRCm38)	I275T	possibly damaging	Het
Neb	A	C	2: 52,226,570 (GRCm38)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,822,108 (GRCm38)	A83V	probably damaging	Het
Nos3	A	G	5: 24,371,627 (GRCm38)	D418G	probably damaging	Het
Olfr1126	A	T	2: 87,457,794 (GRCm38)	M210L	probably benign	Het
Olfr353	T	A	2: 36,890,044 (GRCm38)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,565,154 (GRCm38)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,865,386 (GRCm38)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,746,945 (GRCm38)	I191T	possibly damaging	Het
Rab11fip1	T	C	8: 27,156,374 (GRCm38)	K225E	probably damaging	Het
Rara	A	T	11: 98,966,359 (GRCm38)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,149,773 (GRCm38)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,471,236 (GRCm38)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,575,618 (GRCm38)	T106A	probably damaging	Het
Srcap	G	A	7: 127,530,623 (GRCm38)	G539D	probably damaging	Het
Stab1	C	T	14: 31,148,017 (GRCm38)		probably null	Het

Other mutations in D3Ertd254e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:D3Ertd254e	APN	3	36,164,580 (GRCm38)	missense	possibly damaging	0.86
IGL02089:D3Ertd254e	APN	3	36,164,728 (GRCm38)	missense	possibly damaging	0.53
IGL02162:D3Ertd254e	APN	3	36,164,061 (GRCm38)	missense	probably benign	0.18
R0243:D3Ertd254e	UTSW	3	36,165,154 (GRCm38)	missense	possibly damaging	0.47
R0512:D3Ertd254e	UTSW	3	36,166,113 (GRCm38)	missense	probably damaging	0.96
R0722:D3Ertd254e	UTSW	3	36,165,069 (GRCm38)	missense	probably benign	0.35
R0762:D3Ertd254e	UTSW	3	36,165,867 (GRCm38)	missense	possibly damaging	0.92
R0792:D3Ertd254e	UTSW	3	36,164,562 (GRCm38)	missense	probably benign	0.01
R0894:D3Ertd254e	UTSW	3	36,164,786 (GRCm38)	nonsense	probably null
R1731:D3Ertd254e	UTSW	3	36,164,471 (GRCm38)	missense	probably benign	0.18
R2098:D3Ertd254e	UTSW	3	36,166,140 (GRCm38)	missense	probably benign
R2099:D3Ertd254e	UTSW	3	36,164,212 (GRCm38)	missense	possibly damaging	0.86
R3709:D3Ertd254e	UTSW	3	36,159,576 (GRCm38)	missense	possibly damaging	0.71
R3808:D3Ertd254e	UTSW	3	36,165,643 (GRCm38)	splice site	probably null
R4035:D3Ertd254e	UTSW	3	36,164,840 (GRCm38)	missense	possibly damaging	0.53
R4288:D3Ertd254e	UTSW	3	36,159,598 (GRCm38)	missense	possibly damaging	0.71
R4289:D3Ertd254e	UTSW	3	36,159,598 (GRCm38)	missense	possibly damaging	0.71
R4959:D3Ertd254e	UTSW	3	36,164,136 (GRCm38)	missense	possibly damaging	0.91
R4973:D3Ertd254e	UTSW	3	36,164,136 (GRCm38)	missense	possibly damaging	0.91
R5462:D3Ertd254e	UTSW	3	36,165,820 (GRCm38)	missense	possibly damaging	0.95
R5548:D3Ertd254e	UTSW	3	36,165,491 (GRCm38)	missense	possibly damaging	0.90
R5782:D3Ertd254e	UTSW	3	36,164,979 (GRCm38)	missense	possibly damaging	0.73
R6153:D3Ertd254e	UTSW	3	36,165,154 (GRCm38)	missense	possibly damaging	0.47
R6225:D3Ertd254e	UTSW	3	36,166,203 (GRCm38)	missense	probably benign	0.18
R6602:D3Ertd254e	UTSW	3	36,164,855 (GRCm38)	missense	possibly damaging	0.86
R6785:D3Ertd254e	UTSW	3	36,165,452 (GRCm38)	nonsense	probably null
R7513:D3Ertd254e	UTSW	3	36,164,643 (GRCm38)	missense	possibly damaging	0.53
R7846:D3Ertd254e	UTSW	3	36,165,589 (GRCm38)	missense	probably benign	0.43
R8120:D3Ertd254e	UTSW	3	36,164,491 (GRCm38)	missense	possibly damaging	0.96
R8265:D3Ertd254e	UTSW	3	36,159,528 (GRCm38)	start gained	probably benign
R8415:D3Ertd254e	UTSW	3	36,165,033 (GRCm38)	missense	probably damaging	0.98
R8826:D3Ertd254e	UTSW	3	36,164,106 (GRCm38)	missense	possibly damaging	0.86
R9026:D3Ertd254e	UTSW	3	36,164,917 (GRCm38)	missense	possibly damaging	0.96
R9159:D3Ertd254e	UTSW	3	36,165,753 (GRCm38)	missense	possibly damaging	0.47
R9786:D3Ertd254e	UTSW	3	36,165,704 (GRCm38)	nonsense	probably null
X0021:D3Ertd254e	UTSW	3	36,164,191 (GRCm38)	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