Mutagenetix > Incidental Mutation

Incidental Mutation 'R9735:D6Ertd527e'

731629

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: 0.168) question?

Stock #

R9735 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87081729-87089979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 87088839 bp (GRCm39)

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: 99.8%
3x: 99.6%
10x: 99.1%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,037,262 (GRCm39)	V215A	probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Atp9b	A	T	18: 80,838,629 (GRCm39)	D428E		Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cd6	A	G	19: 10,775,235 (GRCm39)	S296P	probably benign	Het
Cpt1a	A	G	19: 3,420,825 (GRCm39)	R428G	probably benign	Het
Csmd2	A	C	4: 128,402,901 (GRCm39)	T2330P		Het
Dcaf4	T	A	12: 83,572,939 (GRCm39)	I18N	probably benign	Het
Ern1	A	T	11: 106,312,708 (GRCm39)	Y224*	probably null	Het
Ero1a	T	A	14: 45,533,435 (GRCm39)	S224C	possibly damaging	Het
Fcgbpl1	T	A	7: 27,856,435 (GRCm39)	V2074E	probably damaging	Het
Flg2	A	G	3: 93,127,669 (GRCm39)	S2194G	unknown	Het
Fnip1	A	T	11: 54,394,273 (GRCm39)	D903V	probably damaging	Het
Lss	G	T	10: 76,382,615 (GRCm39)	A497S	probably benign	Het
Mark3	T	C	12: 111,621,882 (GRCm39)	F675L	probably benign	Het
Mylk	T	C	16: 34,735,179 (GRCm39)	F720L	probably benign	Het
Nup210	A	C	6: 91,030,630 (GRCm39)	S884A	probably benign	Het
Or2j6	T	A	7: 139,980,378 (GRCm39)	M194L	probably benign	Het
Or4p20	A	T	2: 88,253,501 (GRCm39)	N289K	probably damaging	Het
Osbpl5	C	T	7: 143,248,673 (GRCm39)	V630I	possibly damaging	Het
Pkd1l2	A	G	8: 117,772,820 (GRCm39)	I1069T	possibly damaging	Het
Rnaseh2a	C	T	8: 85,686,661 (GRCm39)	V163M	probably damaging	Het
Septin9	T	A	11: 117,245,680 (GRCm39)	V434E	probably damaging	Het
Slc36a3	A	T	11: 55,026,104 (GRCm39)	I238N	probably damaging	Het
Spin1	T	A	13: 51,293,521 (GRCm39)	L77Q	probably damaging	Het
Spint1	A	G	2: 119,076,897 (GRCm39)	D327G	probably damaging	Het
Tmub2	A	G	11: 102,178,352 (GRCm39)	D123G		Het
Vps13a	A	T	19: 16,701,111 (GRCm39)	L686Q	probably damaging	Het
Zfp51	C	A	17: 21,685,413 (GRCm39)	S676*	probably null	Het

Other mutations in D6Ertd527e

Allele	Source	Chr	Coord	Type	Predicted Effect
Bursting	UTSW	6	87,088,299 (GRCm39)	missense	unknown
R0739_D6Ertd527e_618	UTSW	6	87,088,650 (GRCm39)	missense	unknown
sonenschein	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R0325:D6Ertd527e	UTSW	6	87,088,277 (GRCm39)	missense	unknown
R0415:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R0607:D6Ertd527e	UTSW	6	87,088,887 (GRCm39)	missense	unknown
R0739:D6Ertd527e	UTSW	6	87,088,650 (GRCm39)	missense	unknown
R0992:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R0993:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1193:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1195:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1195:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1195:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1196:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1386:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1413:D6Ertd527e	UTSW	6	87,088,335 (GRCm39)	missense	unknown
R1485:D6Ertd527e	UTSW	6	87,088,067 (GRCm39)	missense	unknown
R1560:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1561:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1568:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R2290:D6Ertd527e	UTSW	6	87,088,527 (GRCm39)	missense	unknown
R4155:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R4461:D6Ertd527e	UTSW	6	87,088,299 (GRCm39)	missense	unknown
R4836:D6Ertd527e	UTSW	6	87,088,406 (GRCm39)	small insertion	probably benign
R5102:D6Ertd527e	UTSW	6	87,088,793 (GRCm39)	missense	unknown
R5149:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R5150:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R5681:D6Ertd527e	UTSW	6	87,088,188 (GRCm39)	missense	unknown
R6250:D6Ertd527e	UTSW	6	87,088,194 (GRCm39)	missense	unknown
R6398:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R6441:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R7001:D6Ertd527e	UTSW	6	87,088,194 (GRCm39)	missense	unknown
R7142:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R7297:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R7821:D6Ertd527e	UTSW	6	87,087,879 (GRCm39)	missense	unknown
R8047:D6Ertd527e	UTSW	6	87,088,454 (GRCm39)	missense	unknown
R8827:D6Ertd527e	UTSW	6	87,088,226 (GRCm39)	missense	unknown
R9038:D6Ertd527e	UTSW	6	87,089,233 (GRCm39)	makesense	probably null
R9503:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9535:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9537:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9538:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9593:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9635:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9639:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9664:D6Ertd527e	UTSW	6	87,088,908 (GRCm39)	missense	unknown
R9669:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9672:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9734:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9736:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9737:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9740:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9767:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9769:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9770:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9783:D6Ertd527e	UTSW	6	87,088,602 (GRCm39)	missense	unknown
S24628:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
V1662:D6Ertd527e	UTSW	6	87,088,874 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2022-11-14