Mutagenetix > Incidental Mutations

Incidental Mutation 'R5150:D6Ertd527e'

395303

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R5150 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87104746-87112997 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 87111524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 223 (T223S)

Ref Sequence

ENSEMBL: ENSMUSP00000145529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170124] [ENSMUST00000203747] [ENSMUST00000204927]

AlphaFold

A0A0N4SWI3

Predicted Effect

unknown
Transcript: ENSMUST00000170124
AA Change: T222S

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: T222S

Domain	Start	End	E-Value	Type
low complexity region	7	183	N/A	INTRINSIC
internal_repeat_1	186	207	1.15e-33	PROSPERO
low complexity region	212	243	N/A	INTRINSIC
internal_repeat_2	244	254	2.22e-11	PROSPERO
internal_repeat_2	260	270	2.22e-11	PROSPERO
low complexity region	272	294	N/A	INTRINSIC
internal_repeat_1	297	318	1.15e-33	PROSPERO
low complexity region	323	459	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203725

Predicted Effect

unknown
Transcript: ENSMUST00000203747
AA Change: T222S

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: T222S

Domain	Start	End	E-Value	Type
low complexity region	5	182	N/A	INTRINSIC
internal_repeat_1	185	206	1.04e-33	PROSPERO
low complexity region	211	242	N/A	INTRINSIC
internal_repeat_2	243	253	2.12e-11	PROSPERO
internal_repeat_2	259	269	2.12e-11	PROSPERO
low complexity region	271	293	N/A	INTRINSIC
internal_repeat_1	296	317	1.04e-33	PROSPERO
low complexity region	322	458	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000204927
AA Change: T223S

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: T223S

Domain	Start	End	E-Value	Type
low complexity region	7	183	N/A	INTRINSIC
internal_repeat_1	186	207	1.15e-33	PROSPERO
low complexity region	212	243	N/A	INTRINSIC
internal_repeat_2	244	254	2.22e-11	PROSPERO
internal_repeat_2	260	270	2.22e-11	PROSPERO
low complexity region	272	294	N/A	INTRINSIC
internal_repeat_1	297	318	1.15e-33	PROSPERO
low complexity region	323	459	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205257

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

93% (57/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	G	4: 35,193,270	S228P	possibly damaging	Het
9930021J03Rik	C	A	19: 29,805,550	A109S	probably damaging	Het
Adam33	T	C	2: 131,053,197		probably benign	Het
Ahnak	T	C	19: 9,010,904	V3184A	possibly damaging	Het
Aoc1	A	G	6: 48,906,150	N320S	possibly damaging	Het
Bin2	T	C	15: 100,645,363	E313G	probably damaging	Het
Ccdc47	T	C	11: 106,205,439	D253G	possibly damaging	Het
Ccdc73	A	G	2: 104,992,039	T778A	probably benign	Het
Cops3	C	A	11: 59,820,013	D377Y	probably damaging	Het
Cyp4a14	A	C	4: 115,493,609	V156G	probably damaging	Het
Disp1	C	A	1: 183,089,499	M452I	probably damaging	Het
Fam210b	T	C	2: 172,351,548	Y94H	probably damaging	Het
Fbxo45	C	A	16: 32,246,706		probably benign	Het
Flrt2	T	A	12: 95,779,203	M105K	possibly damaging	Het
Gm26558	G	A	2: 70,661,312		probably benign	Het
Gpr83	T	G	9: 14,860,805	L91R	probably damaging	Het
Greb1l	TTTAATAACTT	TTT	18: 10,555,950		probably null	Het
Hmces	T	A	6: 87,933,235		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Ksr2	A	C	5: 117,555,009	E174A	probably damaging	Het
Lats1	A	G	10: 7,712,651	T1011A	probably benign	Het
Lrrc46	T	C	11: 97,036,131	D120G	probably damaging	Het
Ncstn	C	A	1: 172,067,584		probably benign	Het
Neb	T	C	2: 52,169,118	T6118A	probably benign	Het
Nipsnap2	A	C	5: 129,757,111	M272L	probably benign	Het
Nlgn2	C	T	11: 69,825,390	R775H	probably damaging	Het
Olfr1284	T	A	2: 111,379,253	D84E	probably damaging	Het
Olfr1309	T	A	2: 111,984,021	T18S	probably benign	Het
Olfr1314	T	A	2: 112,092,535	L55F	possibly damaging	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr1474	A	T	19: 13,471,430	Q153H	probably benign	Het
Olfr157	A	G	4: 43,836,301	L63P	probably damaging	Het
Pold1	A	G	7: 44,535,832	V750A	possibly damaging	Het
Prdm11	C	T	2: 92,975,472	E378K	probably damaging	Het
Ptpn9	A	G	9: 57,036,670	D276G	probably benign	Het
Rlf	A	T	4: 121,148,172	F1204I	probably damaging	Het
Robo1	C	A	16: 72,972,304	T537K	possibly damaging	Het
Sec31b	T	A	19: 44,520,531	M670L	probably benign	Het
Sephs1	T	A	2: 4,899,510	V233E	possibly damaging	Het
Serpinb2	T	C	1: 107,523,209		probably null	Het
Sf3b3	T	C	8: 110,823,376	Q670R	possibly damaging	Het
Slc8a2	A	C	7: 16,145,176	D529A	possibly damaging	Het
Sva	A	G	6: 42,042,159	N88D	probably benign	Het
Tcf15	G	T	2: 152,144,131	R169L	probably damaging	Het
Tfr2	A	G	5: 137,574,490	T188A	probably benign	Het
Tshz1	T	A	18: 84,013,215	K1023*	probably null	Het
Ttc28	A	G	5: 111,225,689	N966S	probably damaging	Het
Unc5c	T	A	3: 141,757,793	I225N	probably damaging	Het
Ush2a	T	C	1: 188,451,870	L1457S	possibly damaging	Het
Zbtb34	G	T	2: 33,411,121	H469Q	probably damaging	Het
Zfp692	T	C	11: 58,307,587	M1T	probably null	Het

Other mutations in D6Ertd527e

Allele	Source	Chr	Coord	Type	Predicted Effect
Bursting	UTSW	6	87111317	missense	unknown
R0739_D6Ertd527e_618	UTSW	6	87111668	missense	unknown
sonenschein	UTSW	6	87111524	missense	unknown
R0325:D6Ertd527e	UTSW	6	87111295	missense	unknown
R0415:D6Ertd527e	UTSW	6	87111524	missense	unknown
R0607:D6Ertd527e	UTSW	6	87111905	missense	unknown
R0739:D6Ertd527e	UTSW	6	87111668	missense	unknown
R0992:D6Ertd527e	UTSW	6	87111524	missense	unknown
R0993:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1193:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1195:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1195:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1195:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1196:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1386:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1413:D6Ertd527e	UTSW	6	87111353	missense	unknown
R1485:D6Ertd527e	UTSW	6	87111085	missense	unknown
R1560:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1561:D6Ertd527e	UTSW	6	87111524	missense	unknown
R1568:D6Ertd527e	UTSW	6	87111524	missense	unknown
R2290:D6Ertd527e	UTSW	6	87111545	missense	unknown
R4155:D6Ertd527e	UTSW	6	87111524	missense	unknown
R4461:D6Ertd527e	UTSW	6	87111317	missense	unknown
R4836:D6Ertd527e	UTSW	6	87111424	small insertion	probably benign
R5102:D6Ertd527e	UTSW	6	87111811	missense	unknown
R5149:D6Ertd527e	UTSW	6	87111524	missense	unknown
R5681:D6Ertd527e	UTSW	6	87111206	missense	unknown
R6250:D6Ertd527e	UTSW	6	87111212	missense	unknown
R6398:D6Ertd527e	UTSW	6	87111524	missense	unknown
R6441:D6Ertd527e	UTSW	6	87111524	missense	unknown
R7001:D6Ertd527e	UTSW	6	87111212	missense	unknown
R7142:D6Ertd527e	UTSW	6	87111524	missense	unknown
R7297:D6Ertd527e	UTSW	6	87111524	missense	unknown
R7821:D6Ertd527e	UTSW	6	87110897	missense	unknown
R8047:D6Ertd527e	UTSW	6	87111472	missense	unknown
R8827:D6Ertd527e	UTSW	6	87111244	missense	unknown
R9038:D6Ertd527e	UTSW	6	87112251	makesense	probably null
S24628:D6Ertd527e	UTSW	6	87111524	missense	unknown
V1662:D6Ertd527e	UTSW	6	87111892	missense	unknown

Predicted Primers

Posted On

2016-06-21