Mutagenetix > Incidental Mutations

Incidental Mutation 'R9038:D6Ertd527e'

687531

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 #

R9038 (G1)

Quality Score

137.008

Status

Not validated

Chromosome

Chromosomal Location

87104746-87112997 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 87112251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 465 (*465W)

Ref Sequence

ENSEMBL: ENSMUSP00000145529 (fasta)

Gene Model

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

AlphaFold

A0A0N4SWI3

Predicted Effect

probably null
Transcript: ENSMUST00000170124
AA Change: *464W

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: *464W

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

probably null
Transcript: ENSMUST00000203747
AA Change: *464W

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: *464W

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

probably null
Transcript: ENSMUST00000204927
AA Change: *465W

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: *465W

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: 99.8%
10x: 98.9%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,754,500	Y371N	possibly damaging	Het
Abcb5	A	T	12: 118,931,916	C382S	probably benign	Het
Abcf2	A	G	5: 24,571,193	V296A	possibly damaging	Het
Aco2	C	G	15: 81,872,419		probably benign	Het
Acvrl1	A	G	15: 101,141,130	D436G	possibly damaging	Het
Adamts7	A	G	9: 90,174,639	I254V		Het
Arhgef18	A	G	8: 3,453,257	I888V	probably benign	Het
Arhgef40	C	A	14: 51,997,615	A1083D	probably damaging	Het
Arnt2	C	A	7: 84,304,851	A275S	probably benign	Het
Brip1	C	T	11: 86,189,773	V156I	probably benign	Het
Camk4	C	A	18: 33,158,900	C204*	probably null	Het
Cenpe	A	G	3: 135,218,036	T161A	probably benign	Het
Chd2	G	A	7: 73,455,610	H1256Y	probably damaging	Het
Chd9	G	A	8: 90,989,605	V936I	unknown	Het
Dcaf11	T	A	14: 55,565,657	D309E	probably damaging	Het
Dtna	A	G	18: 23,610,496	N373S	probably benign	Het
Eif2b2	A	G	12: 85,220,123	D104G	probably benign	Het
Fras1	A	T	5: 96,726,883	T2302S	probably benign	Het
Gga1	A	G	15: 78,884,121	K114E	probably damaging	Het
Gm12887	A	G	4: 121,616,419		probably null	Het
Gss	A	T	2: 155,564,874	I396N		Het
H2-M5	T	C	17: 36,988,530	I199M	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ift172	G	T	5: 31,284,055	T245K	possibly damaging	Het
Iqck	A	G	7: 118,899,658	D173G	probably damaging	Het
Itga11	A	G	9: 62,767,757	N857S	possibly damaging	Het
Kdm1b	C	A	13: 47,049,294	S68R	probably benign	Het
Ly6c1	C	A	15: 75,045,451	G116V	probably damaging	Het
Myo6	G	T	9: 80,255,003	V341L	unknown	Het
Nfkbie	C	A	17: 45,559,257	A176E	probably damaging	Het
Nlrp2	C	T	7: 5,327,479	M639I	probably benign	Het
Olfr1090	A	T	2: 86,754,010	S243T	probably damaging	Het
Olfr1140	A	G	2: 87,746,781	N195S	probably damaging	Het
Olfr1512	T	A	14: 52,372,259	S265C	probably damaging	Het
Olfr418	T	A	1: 173,270,580	I135N	possibly damaging	Het
Olfr680-ps1	T	C	7: 105,091,226	I138V	probably benign	Het
Olfr811	T	C	10: 129,801,695	T277A	probably damaging	Het
Pak4	G	A	7: 28,564,838	T213M	probably damaging	Het
Pan2	C	T	10: 128,317,941	Q1003*	probably null	Het
Pde4c	G	C	8: 70,726,901	V34L	probably benign	Het
Pi4k2a	G	A	19: 42,100,796	V199M	probably damaging	Het
Platr25	T	C	13: 62,700,193	E285G	probably damaging	Het
Polr3e	T	C	7: 120,937,683	V356A	possibly damaging	Het
Prcp	A	G	7: 92,917,809	D243G	probably benign	Het
Qsox2	T	C	2: 26,225,234	T161A	probably damaging	Het
Rhoj	A	G	12: 75,308,926	T35A		Het
Scn9a	T	A	2: 66,494,803	M1336L	probably damaging	Het
Sel1l2	G	T	2: 140,275,464	N162K	probably damaging	Het
Slc15a3	T	C	19: 10,843,502	L161P	probably damaging	Het
Slc4a11	G	A	2: 130,691,743	A100V	probably damaging	Het
Sp1	A	G	15: 102,407,885	S41G	probably benign	Het
Tbx15	A	G	3: 99,314,769	M183V	probably benign	Het
Tfip11	A	G	5: 112,333,348	T397A	possibly damaging	Het
Themis	T	C	10: 28,781,753	S259P	probably damaging	Het
Tm7sf2	T	C	19: 6,067,142	Y77C	probably damaging	Het
Tnnt2	C	A	1: 135,846,746	P81H	possibly damaging	Het
Trpc7	T	C	13: 56,888,073	T16A	probably benign	Het
Ttc30a2	G	A	2: 75,977,871	T99I	probably benign	Het
Ttn	T	A	2: 76,914,712	Y5331F	possibly damaging	Het
Virma	A	G	4: 11,526,922	Q1057R	possibly damaging	Het
Vmn2r118	A	T	17: 55,611,649	F81Y	probably damaging	Het
Vmn2r88	T	C	14: 51,414,033	V268A		Het
Vmn2r93	T	A	17: 18,304,209	M155K	probably benign	Het
Vps13b	G	T	15: 35,875,785	C2772F	possibly damaging	Het
Wdr90	T	C	17: 25,857,226	N86D		Het
Zbtb34	T	C	2: 33,411,236	D431G	probably damaging	Het
Zc3h3	G	A	15: 75,839,388	P408L	probably benign	Het
Zfp345	A	G	2: 150,471,944	Y558H	probably benign	Het
Zfp583	G	A	7: 6,316,544	P490S	probably damaging	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
S24628:D6Ertd527e	UTSW	6	87111524	missense	unknown
V1662:D6Ertd527e	UTSW	6	87111892	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCCCCAGATCTAGTAACACAG -3'
(R):5'- ACTCTGTCTGATTGCTGACTG -3'

Sequencing Primer
(F):5'- GATCTAGTAACACAGACAGCAGCAG -3'
(R):5'- CTGATTGCTGACTGGATAATTTCTAC -3'

Posted On

2021-11-19