Mutagenetix > Incidental Mutation

Incidental Mutation 'R9535:D6Ertd527e'

719646

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R9535 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87104746-87112997 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 87111857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 334 (S334T)

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: S333T

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: S333T

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

unknown
Transcript: ENSMUST00000203747
AA Change: S333T

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: S333T

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: S334T

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: S334T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,487,610	I236V	probably benign	Het
4930583I09Rik	T	A	17: 64,834,331	R65S	unknown	Het
4931408C20Rik	A	C	1: 26,682,151	L1316*	probably null	Het
Abcc6	A	G	7: 45,977,263	S1457P	probably damaging	Het
Alad	T	C	4: 62,510,540	D259G	probably damaging	Het
Atmin	A	G	8: 116,956,588	D329G	probably damaging	Het
Cdkal1	A	G	13: 29,850,024	F29L	probably benign	Het
Chrng	C	T	1: 87,211,480	P518S	probably benign	Het
Cpa1	G	T	6: 30,641,848	D224Y	probably damaging	Het
Dennd5b	T	C	6: 148,993,867	I1222V	probably benign	Het
Dnm1	A	T	2: 32,312,332	S773T	probably benign	Het
Fam208b	T	A	13: 3,573,559	R2130S	possibly damaging	Het
Glmn	A	T	5: 107,558,502	V419E	possibly damaging	Het
Il18rap	T	A	1: 40,547,830	V424E	probably benign	Het
Kdm6b	C	A	11: 69,406,450	G359*	probably null	Het
Krt84	A	G	15: 101,529,581		probably null	Het
Lig4	C	A	8: 9,972,325	C485F	probably damaging	Het
Mpo	T	A	11: 87,799,968	W411R	probably damaging	Het
Mpv17l	A	G	16: 13,941,285	E8G	probably benign	Het
Mrps34	T	C	17: 24,895,477	Y104H	probably benign	Het
Muc15	T	A	2: 110,731,662	W148R	probably damaging	Het
Nrg1	T	C	8: 31,949,967	D134G	probably benign	Het
Prdm1	T	C	10: 44,441,612	Y405C	probably damaging	Het
Ptprb	T	C	10: 116,322,526	S501P	possibly damaging	Het
Pwp1	C	A	10: 85,888,094	S486R	possibly damaging	Het
Rtl1	T	C	12: 109,590,737	E1556G	probably damaging	Het
Rtl1	T	C	12: 109,595,264	Q47R	unknown	Het
Siglece	A	G	7: 43,657,631	F311L	probably benign	Het
Slc27a3	A	G	3: 90,386,311	L589P	probably damaging	Het
Synrg	T	A	11: 83,990,834	M332K	probably benign	Het
Tecta	T	A	9: 42,359,463	N1183I	probably damaging	Het
Tmed11	A	G	5: 108,779,049	I119T	possibly damaging	Het
Ttll3	C	T	6: 113,412,873	R740W	probably damaging	Het
Usp40	T	C	1: 88,007,439		probably benign	Het
Vmn1r236	C	T	17: 21,287,156	H179Y	probably benign	Het
Wwtr1	T	C	3: 57,477,404	M298V	possibly damaging	Het
Xrcc4	T	A	13: 89,940,999	M280L	probably benign	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
R5150: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
R9503:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9537:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9538:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9593:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9635:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9639:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9664:D6Ertd527e	UTSW	6	87111926	missense	unknown
R9669:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9672:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9734:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9735:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9736:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9737:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9740:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9767:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9769:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9770:D6Ertd527e	UTSW	6	87111857	missense	unknown
R9783:D6Ertd527e	UTSW	6	87111620	missense	unknown
S24628:D6Ertd527e	UTSW	6	87111524	missense	unknown
V1662:D6Ertd527e	UTSW	6	87111892	missense	unknown

Predicted Primers

Posted On

2022-07-18