Mutagenetix > Incidental Mutations

Incidental Mutation 'R1195:D6Ertd527e'

197531

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

MMRRC Submission

039267-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1195 (G1)

Quality Score

225

Status

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: 97.4%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AC073561.5	A	T	12: 114,479,395		probably benign	Het
Agtr1a	C	A	13: 30,381,918	P322Q	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Brd1	T	C	15: 88,700,811	E940G	probably benign	Het
Cd163	T	A	6: 124,325,250		probably benign	Het
Cd28	C	T	1: 60,763,144	T74I	possibly damaging	Het
Cntnap2	T	A	6: 46,483,968	M646K	probably benign	Het
Cyb5d1	C	T	11: 69,394,971		probably null	Het
D430042O09Rik	A	G	7: 125,866,482	R1343G	probably damaging	Het
Dab2ip	T	C	2: 35,718,745		probably benign	Het
Dnajc25	C	T	4: 59,003,415	A62V	probably damaging	Het
Dst	A	G	1: 34,211,154	D4063G	probably damaging	Het
Elmod1	T	C	9: 53,935,768	Y42C	probably damaging	Het
Fam129b	T	C	2: 32,919,803	V304A	probably benign	Het
Hdac5	T	C	11: 102,205,506	I310V	probably damaging	Het
Hpx	A	G	7: 105,599,649		probably benign	Het
Igsf3	A	G	3: 101,458,103	D1130G	probably benign	Het
Kdm4d	A	G	9: 14,463,099	S488P	probably benign	Het
Lingo2	A	G	4: 35,708,538	Y481H	probably damaging	Het
Ltbp1	A	G	17: 75,225,285	Q118R	possibly damaging	Het
Map3k20	C	T	2: 72,438,218	P523L	probably damaging	Het
Msx1	A	G	5: 37,821,281	Y297H	probably damaging	Het
Myo9a	A	G	9: 59,895,200	D1990G	probably damaging	Het
Perp	C	A	10: 18,855,735	Y147*	probably null	Het
Prr16	A	T	18: 51,302,683	D78V	probably damaging	Het
Rfx7	C	T	9: 72,617,946	T806M	probably damaging	Het
Robo2	T	C	16: 73,916,128		probably null	Het
Sema5b	A	T	16: 35,651,660	E496V	probably null	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Spdl1	T	C	11: 34,819,817	Y368C	probably damaging	Het
Sptbn2	G	C	19: 4,745,893	R1700P	possibly damaging	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tln2	T	G	9: 67,258,566	K1000Q	probably damaging	Het
Tmbim7	A	G	5: 3,661,943	T63A	probably benign	Het
Tmed11	T	C	5: 108,779,019	D129G	possibly damaging	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Ttll6	T	C	11: 96,135,729	I113T	probably damaging	Het
Uso1	T	A	5: 92,170,747	F210L	probably damaging	Het
Uspl1	T	A	5: 149,194,321	V224E	probably benign	Het
Zfp639	G	A	3: 32,519,196	V86I	possibly 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
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

2014-05-23