Mutagenetix > Incidental Mutations

Incidental Mutation 'R1485:D6Ertd527e'

163396

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

MMRRC Submission

039538-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1485 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

87104746-87112997 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87111085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 77 (S77C)

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: S76C

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: S76C

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: S76C

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: S76C

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: S77C

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: S77C

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,285,580	Y1836C	probably damaging	Het
4930402H24Rik	A	G	2: 130,748,683		probably null	Het
4931408C20Rik	T	G	1: 26,685,880	K73T	possibly damaging	Het
Adgrv1	A	G	13: 81,579,619	S301P	probably damaging	Het
AI987944	C	A	7: 41,374,530	G342*	probably null	Het
Alox5	A	T	6: 116,424,164	F212I	probably damaging	Het
Apaf1	A	T	10: 91,060,243	D322E	probably benign	Het
Aste1	T	A	9: 105,397,810	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,746,143		probably null	Het
Ccdc77	G	A	6: 120,338,140	Q183*	probably null	Het
Ccdc92	T	C	5: 124,836,271	T65A	probably benign	Het
Chrna2	C	T	14: 66,143,363	A27V	probably benign	Het
Coch	G	T	12: 51,598,289	V209F	probably damaging	Het
Cops3	G	A	11: 59,827,889	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,388		probably null	Het
Defb7	A	G	8: 19,495,094		probably null	Het
Entpd6	T	A	2: 150,768,923		probably null	Het
Evc2	C	T	5: 37,370,556	A303V	probably benign	Het
Fhod1	T	C	8: 105,336,798		probably null	Het
Gatsl2	T	A	5: 134,137,133	L240Q	probably damaging	Het
Gcn1l1	T	A	5: 115,574,617	F54I	probably benign	Het
Gm6768	A	G	12: 119,261,050		noncoding transcript	Het
Gm7104	C	A	12: 88,285,563		noncoding transcript	Het
Grid1	A	T	14: 34,822,583	D37V	probably damaging	Het
Icam5	G	A	9: 21,036,406	A560T	probably benign	Het
Igf2r	A	C	17: 12,691,285	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,326,362	V65A	probably benign	Het
Kif3b	T	C	2: 153,322,931		probably null	Het
Kmt2a	T	G	9: 44,826,928		probably benign	Het
March6	T	A	15: 31,498,693	T153S	probably damaging	Het
Mcam	T	A	9: 44,136,763	I72N	probably damaging	Het
Nkain3	T	C	4: 20,484,932	I48M	probably damaging	Het
Nop58	T	A	1: 59,698,345	I107N	probably damaging	Het
Notch2	A	G	3: 98,100,257	H441R	probably benign	Het
Nr1d1	G	A	11: 98,770,361	R360C	probably benign	Het
Olfr683	A	G	7: 105,143,681	I210T	probably benign	Het
Pclo	T	C	5: 14,713,779	S4089P	unknown	Het
Pi4kb	A	G	3: 94,994,387	E455G	probably damaging	Het
Piezo1	T	C	8: 122,482,049	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,417,673	V283A	possibly damaging	Het
Pramef8	G	A	4: 143,417,618	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,733,680	V161E	probably benign	Het
Rasa2	A	G	9: 96,544,348	I815T	probably benign	Het
Rev1	A	T	1: 38,088,572	D202E	probably benign	Het
Sept14	C	T	5: 129,693,054	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,719,026	S112G	probably benign	Het
Siah3	T	A	14: 75,525,554	Y82N	probably benign	Het
Slc2a7	T	C	4: 150,166,396	S425P	probably damaging	Het
Slc9a2	C	T	1: 40,726,388	L313F	probably damaging	Het
Smdt1	T	C	15: 82,346,232	V50A	probably benign	Het
Supt3	G	A	17: 45,036,720	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492	I742T	possibly damaging	Het
Tex44	T	A	1: 86,427,918	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,370,917	D171E	probably damaging	Het
Trim31	A	C	17: 36,898,676	D108A	probably damaging	Het
Ubr1	T	C	2: 120,961,098	N135S	probably benign	Het
Uso1	G	A	5: 92,180,563	V340I	possibly damaging	Het
Utp6	A	C	11: 79,948,923	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,374,847	V554A	possibly damaging	Het
Xdh	C	A	17: 73,914,019	E572*	probably null	Het
Zbtb7c	T	C	18: 76,136,990	S50P	probably damaging	Het
Zfp672	A	G	11: 58,329,569		probably benign	Het
Zzef1	A	G	11: 72,900,809		probably null	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
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
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'- CCTATGCAGAAGAACATTGGCGGTC -3'
(R):5'- TGCCCCTGTTACTAGGTCTGATGC -3'

Sequencing Primer
(F):5'- agcagcagcagtcggag -3'
(R):5'- ctgatgctgctgttgctg -3'

Posted On

2014-03-28