Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Gm7145'

487218

Institutional Source

Beutler Lab

Gene Symbol

Gm7145

Ensembl Gene

ENSMUSG00000100617

Gene Name

predicted gene 7145

Synonyms

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117965939-117986884 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117985888 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 167 (C167S)

Ref Sequence

ENSEMBL: ENSMUSP00000140916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000185381]

Predicted Effect

probably damaging
Transcript: ENSMUST00000185381
AA Change: C167S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140916
Gene: ENSMUSG00000100617
AA Change: C167S

Domain	Start	End	E-Value	Type
KRAB	8	68	4.4e-36	SMART
ZnF_C2H2	109	131	3.6e-6	SMART
ZnF_C2H2	137	159	3.4e-5	SMART
ZnF_C2H2	165	187	1.7e-6	SMART
ZnF_C2H2	193	215	1e-7	SMART
ZnF_C2H2	221	243	2e-5	SMART
ZnF_C2H2	249	271	2.1e-7	SMART
ZnF_C2H2	277	299	9.3e-5	SMART
ZnF_C2H2	305	327	3.4e-4	SMART
ZnF_C2H2	333	355	3.2e-7	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zcchc2	A	C	1: 106,019,879	K117N	probably damaging	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	Het

Other mutations in Gm7145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Gm7145	APN	1	117967687	missense	probably benign	0.00
R6244:Gm7145	UTSW	1	117986140	missense	probably damaging	1.00
R6381:Gm7145	UTSW	1	117985939	nonsense	probably null
R6578:Gm7145	UTSW	1	117985795	missense	probably damaging	0.98
R6853:Gm7145	UTSW	1	117986144	missense	possibly damaging	0.95
R6913:Gm7145	UTSW	1	117985981	missense	probably damaging	1.00
R7159:Gm7145	UTSW	1	117985831	missense	probably benign	0.01
R7196:Gm7145	UTSW	1	117986061	missense	possibly damaging	0.81
R7313:Gm7145	UTSW	1	117986202	missense	probably damaging	1.00
R7343:Gm7145	UTSW	1	117986112	missense	probably damaging	1.00
R7369:Gm7145	UTSW	1	117986108	missense	probably benign	0.01
R8034:Gm7145	UTSW	1	117986164	missense	probably benign	0.03
Z1176:Gm7145	UTSW	1	117986351	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAAGCTCCAGATACTCTTCCTG -3'
(R):5'- GTCTCCAGTATGTAATCTGTGGTGAAC -3'

Sequencing Primer
(F):5'- CACTACAGAATTTCTACTCGAGTGAC -3'
(R):5'- AATCTGTGGTGAACTTTAAGATGTG -3'

Posted On

2017-10-10