Mutagenetix > Incidental Mutations

Incidental Mutation 'R8002:Gm10093'

616431

Institutional Source

Beutler Lab

Gene Symbol

Gm10093

Ensembl Gene

ENSMUSG00000061062

Gene Name

predicted pseudogene 10093

Synonyms

EG15181

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R8002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78491565-78493541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78492287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 236 (S236P)

Ref Sequence

ENSEMBL: ENSMUSP00000078339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079363]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079363
AA Change: S236P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: S236P

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	18	320	3.2e-84	PFAM
low complexity region	390	402	N/A	INTRINSIC
low complexity region	417	430	N/A	INTRINSIC
low complexity region	443	471	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	C	T	7: 119,573,257	R133C	possibly damaging	Het
Adgrf4	T	C	17: 42,667,792	E220G	probably benign	Het
Alx3	T	A	3: 107,600,739	L188*	probably null	Het
Arhgef2	A	T	3: 88,646,810	I969F	probably damaging	Het
Atf6	A	G	1: 170,819,254	V350A	probably benign	Het
Atp1a3	C	A	7: 25,000,671	G88V	probably damaging	Het
Brd8	T	C	18: 34,608,556	T360A	probably benign	Het
Casp1	C	A	9: 5,303,164	T206K	possibly damaging	Het
Ccdc150	A	G	1: 54,272,497	E214G	probably damaging	Het
Ccdc81	T	C	7: 89,876,135	E477G	probably benign	Het
Celsr2	G	T	3: 108,403,969	R1409S	probably damaging	Het
Chd6	T	C	2: 160,990,321	D977G	probably damaging	Het
Cpne3	A	T	4: 19,528,232	F342I	probably damaging	Het
Crot	A	C	5: 8,993,599	S8A	probably benign	Het
Cyp11b2	T	C	15: 74,856,032	H67R	probably damaging	Het
Dnah1	A	T	14: 31,298,722	L1230H	probably damaging	Het
Dqx1	G	A	6: 83,058,577	D24N	probably damaging	Het
Gabrg3	T	C	7: 56,734,968	T282A	possibly damaging	Het
Gm13199	A	G	2: 5,862,647	S13P	unknown	Het
Gnptab	A	T	10: 88,440,268	D1139V	probably benign	Het
Jtb	T	C	3: 90,233,944	S76P	probably benign	Het
Klk1b27	T	A	7: 44,056,021	D172E	probably benign	Het
Lpcat4	G	A	2: 112,244,354	V307I	probably benign	Het
Ltn1	A	C	16: 87,415,947	S575R	probably benign	Het
Map3k13	A	G	16: 21,905,128	T287A	probably benign	Het
Marco	T	G	1: 120,494,780	I58L	probably benign	Het
Nadk	G	T	4: 155,577,198		probably null	Het
Olfr746	A	T	14: 50,653,857	I207F	probably damaging	Het
Otof	G	A	5: 30,380,610	T1215I	probably benign	Het
Pigw	A	T	11: 84,878,423	C27S	probably benign	Het
Pla2g10	A	T	16: 13,725,048	M125K	unknown	Het
Rfx4	A	C	10: 84,840,857	M204L	probably damaging	Het
Sept1	T	C	7: 127,215,902	D209G	probably damaging	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc26a4	T	C	12: 31,547,970	D159G	probably benign	Het
Sptbn4	C	A	7: 27,417,992	S444I	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stard6	T	A	18: 70,500,526	D201E	possibly damaging	Het
Tas2r114	T	C	6: 131,689,139	T309A	probably damaging	Het
Tdrd6	C	A	17: 43,629,819	A113S	probably damaging	Het
Tigd2	T	G	6: 59,210,509	N120K	probably damaging	Het
Tomm70a	A	G	16: 57,136,734	N224S	probably damaging	Het
Tspo	T	C	15: 83,571,439	V9A	probably benign	Het
Vmn1r21	T	A	6: 57,844,214	I82L	probably benign	Het
Vmn2r103	T	A	17: 19,799,249	C532S	probably damaging	Het
Vmn2r76	T	C	7: 86,230,063	N343S	probably benign	Het
Wdr62	T	C	7: 30,252,360	K665E	probably damaging	Het
Xpc	T	A	6: 91,492,305	N820I	probably damaging	Het
Zfp418	A	G	7: 7,181,874	T279A	probably benign	Het

Other mutations in Gm10093

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Gm10093	APN	17	78492129	missense	probably damaging	1.00
IGL01983:Gm10093	APN	17	78492853	missense	probably benign
IGL02543:Gm10093	APN	17	78491874	missense	probably damaging	0.97
buttress	UTSW	17	78492914	missense	possibly damaging	0.91
Chartre	UTSW	17	78492540	missense	probably damaging	0.99
R1174:Gm10093	UTSW	17	78492078	missense	probably benign	0.01
R1605:Gm10093	UTSW	17	78492108	missense	probably damaging	0.98
R2416:Gm10093	UTSW	17	78492516	missense	probably damaging	1.00
R2919:Gm10093	UTSW	17	78492846	missense	probably damaging	0.98
R2920:Gm10093	UTSW	17	78492846	missense	probably damaging	0.98
R3846:Gm10093	UTSW	17	78492972	missense	possibly damaging	0.91
R4544:Gm10093	UTSW	17	78492959	missense	probably benign	0.02
R4546:Gm10093	UTSW	17	78492959	missense	probably benign	0.02
R5223:Gm10093	UTSW	17	78492438	missense	probably benign	0.02
R5297:Gm10093	UTSW	17	78492758	missense	probably benign
R6164:Gm10093	UTSW	17	78492287	missense	probably damaging	0.99
R6568:Gm10093	UTSW	17	78492588	missense	probably damaging	1.00
R6726:Gm10093	UTSW	17	78492858	missense	probably damaging	0.99
R6901:Gm10093	UTSW	17	78492660	missense	probably benign	0.07
R6923:Gm10093	UTSW	17	78492914	missense	possibly damaging	0.91
R7838:Gm10093	UTSW	17	78492018	missense	probably damaging	1.00
R8728:Gm10093	UTSW	17	78492903	missense	probably benign	0.01
R8821:Gm10093	UTSW	17	78492540	missense	probably damaging	0.99
R8920:Gm10093	UTSW	17	78491742	missense	probably benign	0.37
X0060:Gm10093	UTSW	17	78492128	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGCTAAAGTACCACCAGAGGG -3'
(R):5'- AGCATGGGCAAGTTGAAACTC -3'

Sequencing Primer
(F):5'- GACATTGATATTCACCATGGCG -3'
(R):5'- CATGGGCAAGTTGAAACTCTTCACG -3'

Posted On

2020-01-23