Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:D5Ertd579e'

375886

Institutional Source

Beutler Lab

Gene Symbol

D5Ertd579e

Ensembl Gene

ENSMUSG00000029190

Gene Name

DNA segment, Chr 5, ERATO Doi 579, expressed

Synonyms

9030221A05Rik, A930018H20Rik

MMRRC Submission

042502-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R4898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36757829-36853368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36772285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 703 (E703D)

Ref Sequence

ENSEMBL: ENSMUSP00000031091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031091]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031091
AA Change: E703D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: E703D

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	1303	N/A	PFAM
low complexity region	1365	1376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132383

SMART Domains

Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	1	1181	N/A	PFAM
low complexity region	1243	1254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140063

SMART Domains

Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190

Domain	Start	End	E-Value	Type
Pfam:DUF4603	23	77	1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201187

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,639,111 (GRCm39)	Y944C	probably damaging	Het
Acacb	T	C	5: 114,370,999 (GRCm39)	V1747A	probably benign	Het
Acad8	C	T	9: 26,889,698 (GRCm39)	R332H	probably damaging	Het
Acrbp	A	C	6: 125,027,501 (GRCm39)	T50P	probably damaging	Het
Ahctf1	G	T	1: 179,583,077 (GRCm39)	N1500K	probably benign	Het
Aoc1l3	A	G	6: 48,964,651 (GRCm39)	T220A	possibly damaging	Het
Arfgef1	A	G	1: 10,229,798 (GRCm39)	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,842,171 (GRCm39)	S478G	probably benign	Het
Armh1	T	C	4: 117,094,977 (GRCm39)	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,227,779 (GRCm39)	L1045*	probably null	Het
Atp2a3	T	A	11: 72,873,506 (GRCm39)	L793H	probably damaging	Het
B4galnt4	C	A	7: 140,648,173 (GRCm39)	P563Q	probably benign	Het
Bcl2a1b	A	T	9: 89,081,713 (GRCm39)	K94*	probably null	Het
Bod1	T	A	11: 31,616,853 (GRCm39)	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,055,166 (GRCm39)	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588 (GRCm38)	V1250A	possibly damaging	Het
Car12	T	A	9: 66,671,600 (GRCm39)	Y332*	probably null	Het
Ccdc186	A	T	19: 56,790,432 (GRCm39)		probably null	Het
Cdh6	T	C	15: 13,034,774 (GRCm39)	T629A	probably damaging	Het
Cep112	T	A	11: 108,397,471 (GRCm39)	D353E	probably damaging	Het
Cep152	T	C	2: 125,428,301 (GRCm39)	S777G	probably benign	Het
Clec4b2	A	C	6: 123,181,163 (GRCm39)	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926 (GRCm39)	Y323H	probably benign	Het
Cnp	G	T	11: 100,467,202 (GRCm39)	E48D	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,275,224 (GRCm39)	D241V	probably benign	Het
Dlg1	T	C	16: 31,676,764 (GRCm39)	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,651,276 (GRCm39)	S86G	probably benign	Het
Dock3	C	A	9: 106,870,171 (GRCm39)	V638F	possibly damaging	Het
Dock3	A	G	9: 106,807,266 (GRCm39)	F1354L	probably damaging	Het
Eif3c	A	T	7: 126,156,626 (GRCm39)	M407K	probably benign	Het
Eif4a3l1	A	T	6: 136,305,737 (GRCm39)	Q66L	possibly damaging	Het
Epha4	T	A	1: 77,366,712 (GRCm39)	K578*	probably null	Het
Erc2	C	T	14: 27,375,285 (GRCm39)	L168F	probably damaging	Het
Esyt2	A	G	12: 116,305,708 (GRCm39)	I313V	probably benign	Het
Far1	T	A	7: 113,167,432 (GRCm39)	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,547,037 (GRCm39)	N463Y	possibly damaging	Het
Fgg	A	G	3: 82,915,847 (GRCm39)	D96G	probably benign	Het
Gfer	A	G	17: 24,914,274 (GRCm39)	S130P	probably damaging	Het
Hdac10	A	T	15: 89,012,650 (GRCm39)	M1K	probably null	Het
Hsd3b1	A	T	3: 98,760,642 (GRCm39)	S110R	probably benign	Het
Ints15	A	G	5: 143,287,592 (GRCm39)	S438P	probably benign	Het
Itga6	T	C	2: 71,668,717 (GRCm39)	L552P	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,147,214 (GRCm39)	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,628,080 (GRCm39)	Y142F	probably benign	Het
Lyz2	T	A	10: 117,114,614 (GRCm39)	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Map7d1	T	C	4: 126,127,018 (GRCm39)	K731E	unknown	Het
Mgam	A	C	6: 40,619,988 (GRCm39)	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953 (GRCm39)	E104D	probably benign	Het
Morc2a	C	T	11: 3,626,664 (GRCm39)	R241*	probably null	Het
Mtfmt	C	A	9: 65,359,386 (GRCm39)	H354N	probably benign	Het
Myh3	T	C	11: 66,990,233 (GRCm39)	I1626T	probably benign	Het
Ndst1	A	T	18: 60,825,059 (GRCm39)	V753D	probably benign	Het
Neurl4	A	G	11: 69,793,997 (GRCm39)	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,168,194 (GRCm39)	S568G	probably benign	Het
Or10g3b	G	C	14: 52,586,999 (GRCm39)	P168R	probably damaging	Het
Or2t45	T	C	11: 58,669,132 (GRCm39)	Y60H	possibly damaging	Het
Or2t46	T	G	11: 58,472,546 (GRCm39)	L292R	probably damaging	Het
Or4c52	T	C	2: 89,845,762 (GRCm39)	F163L	probably damaging	Het
Or52s1	A	G	7: 102,861,747 (GRCm39)	I216V	probably damaging	Het
Or6c66	A	T	10: 129,461,468 (GRCm39)	I154N	probably benign	Het
Or8b42	A	T	9: 38,342,111 (GRCm39)	M178L	probably benign	Het
Osbpl7	A	G	11: 96,950,976 (GRCm39)	I608V	probably damaging	Het
Pard3b	T	C	1: 61,807,159 (GRCm39)	I58T	probably damaging	Het
Pcare	A	G	17: 72,058,066 (GRCm39)	M537T	probably damaging	Het
Pcdhga1	A	C	18: 37,795,407 (GRCm39)	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,139,072 (GRCm39)	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,230,786 (GRCm39)	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,514,042 (GRCm39)	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,610,899 (GRCm39)	Y183C	probably damaging	Het
Pole	A	C	5: 110,438,090 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,045,313 (GRCm39)	L948P	probably damaging	Het
Prdm2	A	T	4: 142,860,761 (GRCm39)	V843E	probably damaging	Het
Prss56	C	A	1: 87,115,708 (GRCm39)	F527L	probably damaging	Het
Psmd11	T	C	11: 80,329,146 (GRCm39)	L88P	probably damaging	Het
Ptx3	G	C	3: 66,132,412 (GRCm39)	G311A	probably damaging	Het
Rars1	A	T	11: 35,699,385 (GRCm39)	L636H	probably damaging	Het
Rnft2	A	G	5: 118,375,507 (GRCm39)	S81P	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxra	T	A	2: 27,631,195 (GRCm39)	I142N	probably damaging	Het
Scin	T	C	12: 40,154,931 (GRCm39)	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,584,069 (GRCm39)	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,157,783 (GRCm39)	I505F	probably benign	Het
Six5	T	C	7: 18,829,096 (GRCm39)	Y179H	probably damaging	Het
Slc12a4	A	C	8: 106,671,241 (GRCm39)	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,765,237 (GRCm39)	L404F	probably damaging	Het
Smn1	T	C	13: 100,268,931 (GRCm39)	L259P	probably damaging	Het
Sorl1	T	G	9: 41,952,935 (GRCm39)	D702A	probably damaging	Het
Spta1	A	G	1: 174,065,400 (GRCm39)	E1983G	possibly damaging	Het
Srsf1	T	A	11: 87,940,788 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,536,900 (GRCm39)	R4224*	probably null	Het
Sybu	T	G	15: 44,538,895 (GRCm39)	M383L	probably benign	Het
Tbx15	A	C	3: 99,259,583 (GRCm39)	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 137,819,786 (GRCm39)	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616 (GRCm39)	T474N	possibly damaging	Het
Thada	A	T	17: 84,755,470 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,704,235 (GRCm39)	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,914,566 (GRCm39)	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,158,845 (GRCm39)	M623T	probably damaging	Het
Trdn	T	A	10: 33,350,413 (GRCm39)	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,612,056 (GRCm39)	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,707,026 (GRCm39)	R644S	probably benign	Het
Ttyh1	A	T	7: 4,136,735 (GRCm39)	M448L	probably benign	Het
Unc79	G	T	12: 103,128,079 (GRCm39)	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,358,805 (GRCm39)	I2110M	probably benign	Het
Uvssa	G	T	5: 33,571,257 (GRCm39)	E634*	probably null	Het
Vac14	A	C	8: 111,372,440 (GRCm39)	T384P	probably benign	Het
Wdr11	A	G	7: 129,235,445 (GRCm39)	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,157,298 (GRCm39)	T28S	probably benign	Het
Zfp715	A	T	7: 42,949,106 (GRCm39)	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,747,424 (GRCm39)	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,396,085 (GRCm39)	V544M	probably damaging	Het

Other mutations in D5Ertd579e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:D5Ertd579e	APN	5	36,776,098 (GRCm39)	missense	probably damaging	0.99
IGL01925:D5Ertd579e	APN	5	36,771,628 (GRCm39)	missense	possibly damaging	0.67
IGL01933:D5Ertd579e	APN	5	36,773,100 (GRCm39)	missense	probably benign
IGL02164:D5Ertd579e	APN	5	36,772,303 (GRCm39)	missense	probably damaging	1.00
IGL02399:D5Ertd579e	APN	5	36,773,529 (GRCm39)	missense	probably damaging	1.00
IGL02896:D5Ertd579e	APN	5	36,771,326 (GRCm39)	missense	possibly damaging	0.70
IGL03141:D5Ertd579e	APN	5	36,770,621 (GRCm39)	missense	possibly damaging	0.94
IGL03235:D5Ertd579e	APN	5	36,776,172 (GRCm39)	splice site	probably benign
R0201:D5Ertd579e	UTSW	5	36,773,809 (GRCm39)	missense	probably damaging	1.00
R0377:D5Ertd579e	UTSW	5	36,761,911 (GRCm39)	missense	probably benign	0.12
R0830:D5Ertd579e	UTSW	5	36,771,101 (GRCm39)	missense	probably damaging	1.00
R0926:D5Ertd579e	UTSW	5	36,830,210 (GRCm39)	missense	probably damaging	1.00
R1350:D5Ertd579e	UTSW	5	36,771,081 (GRCm39)	missense	probably damaging	1.00
R1448:D5Ertd579e	UTSW	5	36,760,083 (GRCm39)	missense	probably benign
R1672:D5Ertd579e	UTSW	5	36,770,621 (GRCm39)	missense	possibly damaging	0.50
R1676:D5Ertd579e	UTSW	5	36,773,453 (GRCm39)	missense	probably benign	0.01
R1693:D5Ertd579e	UTSW	5	36,771,441 (GRCm39)	missense	probably damaging	0.98
R1698:D5Ertd579e	UTSW	5	36,761,874 (GRCm39)	missense	probably benign
R1868:D5Ertd579e	UTSW	5	36,773,771 (GRCm39)	missense	probably damaging	0.99
R1909:D5Ertd579e	UTSW	5	36,771,402 (GRCm39)	missense	probably benign	0.21
R2034:D5Ertd579e	UTSW	5	36,770,882 (GRCm39)	nonsense	probably null
R2080:D5Ertd579e	UTSW	5	36,773,550 (GRCm39)	missense	probably benign	0.01
R2105:D5Ertd579e	UTSW	5	36,770,793 (GRCm39)	missense	probably benign	0.12
R2197:D5Ertd579e	UTSW	5	36,772,137 (GRCm39)	missense	possibly damaging	0.69
R4212:D5Ertd579e	UTSW	5	36,771,823 (GRCm39)	missense	probably damaging	0.99
R4452:D5Ertd579e	UTSW	5	36,773,814 (GRCm39)	missense	probably damaging	1.00
R4626:D5Ertd579e	UTSW	5	36,771,903 (GRCm39)	missense	possibly damaging	0.92
R4804:D5Ertd579e	UTSW	5	36,786,996 (GRCm39)	splice site	probably null
R4917:D5Ertd579e	UTSW	5	36,773,160 (GRCm39)	missense	probably damaging	1.00
R4960:D5Ertd579e	UTSW	5	36,773,571 (GRCm39)	nonsense	probably null
R4973:D5Ertd579e	UTSW	5	36,830,249 (GRCm39)	missense	probably benign
R5092:D5Ertd579e	UTSW	5	36,760,047 (GRCm39)	missense	probably benign	0.18
R5474:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5475:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5476:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5477:D5Ertd579e	UTSW	5	36,772,601 (GRCm39)	missense	probably damaging	1.00
R5801:D5Ertd579e	UTSW	5	36,761,913 (GRCm39)	missense	probably damaging	1.00
R6019:D5Ertd579e	UTSW	5	36,787,036 (GRCm39)	missense	possibly damaging	0.90
R6184:D5Ertd579e	UTSW	5	36,787,127 (GRCm39)	missense	probably damaging	0.99
R6213:D5Ertd579e	UTSW	5	36,759,978 (GRCm39)	missense	probably damaging	1.00
R6244:D5Ertd579e	UTSW	5	36,772,620 (GRCm39)	missense	probably damaging	0.98
R6276:D5Ertd579e	UTSW	5	36,761,858 (GRCm39)	missense	possibly damaging	0.66
R6285:D5Ertd579e	UTSW	5	36,772,921 (GRCm39)	missense	probably damaging	1.00
R6358:D5Ertd579e	UTSW	5	36,773,580 (GRCm39)	splice site	probably null
R6875:D5Ertd579e	UTSW	5	36,762,001 (GRCm39)	splice site	probably null
R6967:D5Ertd579e	UTSW	5	36,773,100 (GRCm39)	missense	probably benign
R7139:D5Ertd579e	UTSW	5	36,771,320 (GRCm39)	missense	probably damaging	1.00
R7329:D5Ertd579e	UTSW	5	36,773,739 (GRCm39)	missense	probably benign	0.21
R7464:D5Ertd579e	UTSW	5	36,771,129 (GRCm39)	missense	probably damaging	0.99
R7664:D5Ertd579e	UTSW	5	36,771,961 (GRCm39)	missense	probably benign	0.00
R7762:D5Ertd579e	UTSW	5	36,770,725 (GRCm39)	missense
R7951:D5Ertd579e	UTSW	5	36,772,517 (GRCm39)	missense	probably benign
R8175:D5Ertd579e	UTSW	5	36,772,814 (GRCm39)	missense	probably damaging	1.00
R8217:D5Ertd579e	UTSW	5	36,771,402 (GRCm39)	missense	probably benign	0.00
R8233:D5Ertd579e	UTSW	5	36,772,588 (GRCm39)	missense	probably damaging	0.99
R8281:D5Ertd579e	UTSW	5	36,770,664 (GRCm39)	missense
R8398:D5Ertd579e	UTSW	5	36,771,621 (GRCm39)	nonsense	probably null
R8673:D5Ertd579e	UTSW	5	36,830,151 (GRCm39)	missense	probably benign	0.03
R8771:D5Ertd579e	UTSW	5	36,761,940 (GRCm39)	missense	probably damaging	1.00
R8853:D5Ertd579e	UTSW	5	36,787,024 (GRCm39)	missense	probably damaging	0.99
R9106:D5Ertd579e	UTSW	5	36,773,682 (GRCm39)	missense	probably benign	0.39
R9121:D5Ertd579e	UTSW	5	36,772,778 (GRCm39)	missense	probably damaging	1.00
R9413:D5Ertd579e	UTSW	5	36,772,278 (GRCm39)	missense	probably damaging	1.00
R9569:D5Ertd579e	UTSW	5	36,759,979 (GRCm39)	missense	probably damaging	0.97
R9715:D5Ertd579e	UTSW	5	36,787,029 (GRCm39)	missense	possibly damaging	0.94
R9723:D5Ertd579e	UTSW	5	36,772,284 (GRCm39)	missense	probably damaging	0.99
RF022:D5Ertd579e	UTSW	5	36,772,006 (GRCm39)	missense	probably damaging	1.00
X0019:D5Ertd579e	UTSW	5	36,771,302 (GRCm39)	missense	probably damaging	1.00
Z1176:D5Ertd579e	UTSW	5	36,773,106 (GRCm39)	missense	probably benign	0.00
Z1189:D5Ertd579e	UTSW	5	36,772,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGCAAGTTTCATCCTGC -3'
(R):5'- GCAATCAAGAGCCCTTTTCC -3'

Sequencing Primer
(F):5'- GACTCTGGGAACCACATA -3'
(R):5'- GAGCCCTTTTCCAATATTAATGAAGG -3'

Posted On

2016-03-17