Mutagenetix > Incidental Mutation

Incidental Mutation 'R6398:D6Ertd527e'

516066

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

MMRRC Submission

044381-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R6398 (G1)

Quality Score

119.008

Status

Not validated

Chromosome

Chromosomal Location

87081729-87089979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 87088506 bp (GRCm39)

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	T	A	4: 126,342,601 (GRCm39)	Q514L	probably benign	Het
Alpi	G	C	1: 87,027,184 (GRCm39)	T365S	probably damaging	Het
Cbx4	A	T	11: 118,971,908 (GRCm39)	V489E	probably damaging	Het
Ccdc162	T	C	10: 41,503,145 (GRCm39)	D999G	probably damaging	Het
Clspn	A	G	4: 126,457,740 (GRCm39)	E88G	probably damaging	Het
Ddx1	A	T	12: 13,295,721 (GRCm39)	I33N	probably damaging	Het
Diaph3	G	A	14: 87,103,922 (GRCm39)	L821F	probably damaging	Het
Duox2	C	T	2: 122,126,851 (GRCm39)	M221I	probably benign	Het
Gm15130	A	T	2: 110,965,787 (GRCm39)	M154K	unknown	Het
Gm3233	G	T	10: 77,595,249 (GRCm39)		probably benign	Het
Heg1	A	C	16: 33,587,145 (GRCm39)	I1327L	probably damaging	Het
Ifnar1	G	A	16: 91,302,303 (GRCm39)		probably null	Het
Itpr1	C	T	6: 108,482,864 (GRCm39)	L2310F	probably damaging	Het
Or5b98	T	C	19: 12,931,681 (GRCm39)	S243P	probably damaging	Het
Pcdhb7	A	G	18: 37,476,487 (GRCm39)	N541S	possibly damaging	Het
Prelp	A	G	1: 133,842,479 (GRCm39)	L222P	probably damaging	Het
Prl8a8	A	G	13: 27,692,412 (GRCm39)	I193T	probably damaging	Het
Prpf4b	G	T	13: 35,084,354 (GRCm39)	R914L	probably damaging	Het
Ptbp2	G	C	3: 119,514,484 (GRCm39)	Q448E	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc9a9	A	T	9: 94,552,280 (GRCm39)	M56L	probably benign	Het
Slfn4	A	G	11: 83,078,000 (GRCm39)	I263V	possibly damaging	Het
Taar2	A	G	10: 23,817,177 (GRCm39)	N239S	probably benign	Het
Trrap	T	A	5: 144,727,680 (GRCm39)	I467N	possibly damaging	Het
Ttc28	T	C	5: 111,424,142 (GRCm39)	Y1439H	probably damaging	Het
Usp34	A	G	11: 23,438,666 (GRCm39)	I3409M	probably benign	Het
Zbbx	G	T	3: 74,985,872 (GRCm39)	N388K	probably damaging	Het
Znhit2	A	G	19: 6,112,287 (GRCm39)	N344S	probably damaging	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
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
R9735: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

2018-05-04