Mutagenetix > Incidental Mutation

Incidental Mutation 'S24628:D6Ertd527e'

385657

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

S24628 () of strain waterfowl

Quality Score

222

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

Homozygous

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: 98.1%
3x: 97.0%
10x: 94.3%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Gpr183	C	A	14: 121,954,476	C211F	probably damaging	Homo
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Letm1	G	A	5: 33,747,444	P513S	probably benign	Het
Letm1	G	A	5: 33,747,446	P512L	probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Npr3	C	A	15: 11,848,563	M439I	probably benign	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Homo
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Homo
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Tbcel	C	A	9: 42,444,500	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Homo
Tmprss13	A	G	9: 45,337,132		probably null	Het
Tnc	C	T	4: 64,018,012	G229D	probably damaging	Homo
Ugt1a10	TTCATCA	TTCA	1: 88,216,158		probably benign	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Homo
Vmn1r22	G	T	6: 57,900,332	T220K	probably benign	Homo
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Zap70	A	G	1: 36,770,811	M1V	probably null	Homo
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Homo
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Homo

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
R9535: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
V1662:D6Ertd527e	UTSW	6	87111892	missense	unknown

Predicted Primers

Posted On

2016-05-10