Mutagenetix > Incidental Mutations

Incidental Mutation 'R0992:D6Ertd527e'

97765

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

MMRRC Submission

039112-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0992 (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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,211,684	T905A	probably damaging	Het
Arhgap20	A	G	9: 51,816,786	R100G	probably damaging	Het
Bsn	G	A	9: 108,114,354	R1400*	probably null	Het
Clstn2	A	G	9: 97,445,712	S948P	probably benign	Het
Col15a1	G	A	4: 47,300,491	V1029M	probably damaging	Het
Disc1	T	C	8: 125,088,042	I215T	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dst	A	G	1: 34,199,536	N3773S	probably damaging	Het
Gdap1	A	G	1: 17,147,105	Y96C	probably damaging	Het
Glipr1l1	A	G	10: 112,062,325	R112G	probably benign	Het
Gria4	A	G	9: 4,795,238	S13P	probably benign	Het
Noxred1	T	C	12: 87,224,226	N207S	probably benign	Het
Pom121l2	A	T	13: 21,982,759	Q400L	probably benign	Het
Sla2	T	C	2: 156,874,472	E243G	probably damaging	Het
Srpk2	A	G	5: 23,545,543	I54T	probably damaging	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Trim15	C	T	17: 36,865,011	V215M	probably damaging	Het
Uchl3	T	C	14: 101,668,533	I144T	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
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
S24628:D6Ertd527e	UTSW	6	87111524	missense	unknown
V1662:D6Ertd527e	UTSW	6	87111892	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCATCAGACCTAGTAACAGGGGC -3'
(R):5'- GCTGCTGCTACTGCTGCTGC -3'

Sequencing Primer
(F):5'- gcagcatcagcaactatgac -3'
(R):5'- tactgctgctgctgctg -3'

Posted On

2014-01-05