Mutagenetix > Incidental Mutations

Incidental Mutation 'R5681:D6Ertd527e'

443032

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

R5681 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

87104746-87112997 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87111206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 117 (N117S)

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: N116S

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: N116S

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: N116S

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: N116S

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: N117S

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: N117S

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: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	A	5: 9,459,308		probably null	Het
Acoxl	T	C	2: 127,972,639	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,249,241	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,156,040	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,519,779	D1178N	probably benign	Het
Atp10d	T	C	5: 72,246,946		probably benign	Het
Baiap3	A	G	17: 25,249,373	S264P	probably damaging	Het
BC055324	T	C	1: 163,962,085	N627S	probably damaging	Het
Brinp3	A	T	1: 146,901,746	I644F	probably benign	Het
Ccdc66	T	C	14: 27,486,741	R675G	probably benign	Het
Cnr2	T	G	4: 135,916,689	M26R	probably damaging	Het
Col6a2	A	T	10: 76,609,251		probably null	Het
Cux1	A	G	5: 136,308,184	W696R	probably damaging	Het
Dnah12	T	C	14: 26,815,495	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,249,836	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,283,213	F724L	probably damaging	Het
Enoph1	T	C	5: 100,062,277		probably null	Het
Epha10	A	T	4: 124,902,566	Q356L	unknown	Het
Fbln2	G	T	6: 91,271,796	V1148L	probably damaging	Het
Gm11397	G	A	13: 33,395,829	C20Y	probably damaging	Het
Gm8251	A	T	1: 44,061,464	V158D	possibly damaging	Het
Gp2	C	T	7: 119,452,294	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,363,318	S800C	probably damaging	Het
Hat1	A	G	2: 71,434,209		probably null	Het
Hpdl	A	T	4: 116,820,842	S141T	probably benign	Het
Klhl29	A	G	12: 5,090,669	S658P	possibly damaging	Het
Lifr	T	A	15: 7,191,084	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,937,161		probably benign	Het
March9	T	A	10: 127,058,303	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,087,937	I312V	possibly damaging	Het
Ngf	T	A	3: 102,520,353	F139L	probably damaging	Het
Nipbl	T	C	15: 8,301,382	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nphs1	A	G	7: 30,486,625	D1227G	probably benign	Het
Olfm3	C	A	3: 115,122,275	N285K	probably benign	Het
Olfr1313	T	A	2: 112,072,377	I69F	probably benign	Het
Olfr3	C	A	2: 36,812,681	S137I	probably benign	Het
Olfr855	G	A	9: 19,584,899	D121N	probably damaging	Het
Olfr870	A	G	9: 20,170,795	Y259H	probably damaging	Het
Olfr887	C	T	9: 38,085,631	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,863,486	S128P	probably benign	Het
Otop2	A	T	11: 115,326,859	M174L	probably damaging	Het
Pard3	A	G	8: 127,389,433	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,547,461	T967A	possibly damaging	Het
Pls1	A	G	9: 95,787,012	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,907,659	K64R	probably damaging	Het
Pxn	T	C	5: 115,544,534	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,120	D584G	probably damaging	Het
Safb	G	A	17: 56,599,000		probably benign	Het
Serinc2	A	C	4: 130,265,076	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,946,701	H52L	probably benign	Het
Serpinf2	A	G	11: 75,435,939	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,514,740	S107T	probably benign	Het
Slc41a3	T	C	6: 90,640,946	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,538,735	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,225,135	G788D	probably damaging	Het
Snx7	A	G	3: 117,846,623	I79T	probably benign	Het
Sox11	G	T	12: 27,341,824	D195E	probably benign	Het
Ssc4d	A	G	5: 135,970,220	L43P	probably damaging	Het
Tab2	A	G	10: 7,920,073	I215T	probably damaging	Het
Ttn	C	T	2: 76,830,598	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,546,075		probably null	Het
Wdr17	T	C	8: 54,662,869	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,852,895	M445K	probably damaging	Het
Xpc	A	G	6: 91,504,120	F257L	probably 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
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
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'- TGGTTGATCCAGAAGACATGTG -3'
(R):5'- GCTGATGTTGCCACTAGAGG -3'

Sequencing Primer
(F):5'- CCAGAAGACATGTGTGTGCTGC -3'
(R):5'- CCACTAGAGGGTTGGGGACTG -3'

Posted On

2016-11-09