Mutagenetix > Incidental Mutations

Incidental Mutation 'R7821:D6Ertd527e'

601864

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

Is this an essential gene?

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

Stock #

R7821 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

87104746-87112997 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87110897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 14 (S14N)

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: S13N

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: S13N

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: S13N

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: S13N

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: S14N

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: S14N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,050	Q81R	possibly damaging	Het
5830473C10Rik	T	C	5: 90,592,888	V560A	possibly damaging	Het
Aass	T	A	6: 23,120,930	T112S	probably damaging	Het
Abca12	G	T	1: 71,259,791	S2320R	probably benign	Het
Abca7	TGGTGCGTGAG	TG	10: 80,002,590		probably benign	Het
Adh7	T	A	3: 138,226,375	I250N	probably damaging	Het
Aoc1	T	A	6: 48,905,811	I229N	probably damaging	Het
C2cd6	A	T	1: 59,067,792	Y291*	probably null	Het
Cacnb4	T	C	2: 52,434,508	D514G	possibly damaging	Het
Clec2g	A	G	6: 128,948,777	T50A	probably benign	Het
Col6a5	T	C	9: 105,864,259	E2487G	probably damaging	Het
D130040H23Rik	A	T	8: 69,300,235		probably null	Het
Dchs1	G	A	7: 105,765,145	T821I	probably benign	Het
Dhcr24	T	C	4: 106,571,436	S138P	possibly damaging	Het
Dhrs9	G	A	2: 69,394,438	G157R	probably damaging	Het
Dnah5	T	A	15: 28,411,532	D3682E	possibly damaging	Het
Dst	T	C	1: 34,275,362		probably null	Het
Fat1	A	T	8: 44,950,224	H4L	probably benign	Het
Flnb	A	G	14: 7,939,113	I2319V	probably benign	Het
Foxe1	T	C	4: 46,344,578	W129R	probably damaging	Het
Foxred2	G	A	15: 77,943,350	P603L	probably benign	Het
Fshr	A	G	17: 88,986,213	S346P	probably damaging	Het
Galnt2	T	A	8: 124,343,395	S550R	possibly damaging	Het
Gpc2	A	G	5: 138,276,297	S312P	probably benign	Het
Gpr150	C	A	13: 76,056,392	A145S	probably benign	Het
Grk4	T	A	5: 34,710,209	W173R	probably damaging	Het
Hoxb9	C	G	11: 96,271,711	P57R	probably damaging	Het
Hsf5	A	G	11: 87,638,128	Q563R	probably benign	Het
Ighv1-58	A	G	12: 115,312,176	F114S	possibly damaging	Het
Klra9	T	A	6: 130,185,600	I158F	probably damaging	Het
Lrrc8d	T	C	5: 105,812,344	S207P	probably damaging	Het
Nbeal2	T	C	9: 110,630,252	E1929G	probably damaging	Het
Ncoa1	A	G	12: 4,296,221	M89T	probably benign	Het
Nkx2-4	T	C	2: 147,085,288	I20V	probably benign	Het
Nup214	T	C	2: 32,026,905	S1191P	possibly damaging	Het
Olfr136	A	G	17: 38,335,964	D269G	probably benign	Het
Pfkp	T	A	13: 6,597,872	N556I	probably damaging	Het
Pidd1	A	T	7: 141,442,280	S199T	probably benign	Het
Pik3r2	T	A	8: 70,769,764	I515F	probably damaging	Het
Plcxd2	T	A	16: 45,965,161	I294F	probably damaging	Het
Prmt6	C	A	3: 110,250,987		probably benign	Het
Prpf8	A	G	11: 75,494,474	I812V	probably benign	Het
Rasa2	T	C	9: 96,580,484		probably null	Het
Rsad1	A	C	11: 94,544,462	D266E	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Shroom3	T	A	5: 92,940,846	V485E	probably damaging	Het
Siae	T	A	9: 37,644,900	Y451N	probably damaging	Het
Slc7a11	A	T	3: 50,381,027	I354N	probably damaging	Het
Spryd7	A	T	14: 61,545,680		probably null	Het
Srcap	A	G	7: 127,530,327		probably benign	Het
Svep1	T	A	4: 58,179,601	D214V	probably damaging	Het
Tmtc4	T	C	14: 122,971,877	I119V	probably benign	Het
Trim5	G	A	7: 104,278,426	T169I	probably benign	Het
Ttc33	T	C	15: 5,212,025	F83S	probably benign	Het
Ubr5	A	T	15: 37,997,187	S1741T	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdcp	A	G	12: 4,857,975	N694S	probably benign	Het
Zfp174	T	A	16: 3,848,177	I102N	probably damaging	Het
Zfp354a	T	C	11: 51,069,712	F248S	probably damaging	Het
Zfyve26	A	T	12: 79,255,324	C404S	probably damaging	Het
Zmynd8	A	T	2: 165,881,080		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
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
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
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'- CACCTTTAGACACTGTGAGTTCAG -3'
(R):5'- GCTGATGTTGCCACTAGAGG -3'

Sequencing Primer
(F):5'- GACACTGTGAGTTCAGCTATAACC -3'
(R):5'- GATGCTGCCCCTGTTACTAGG -3'

Posted On

2019-12-03