Mutagenetix > Incidental Mutations

Incidental Mutation 'R8920:Gm10093'

679216

Institutional Source

Beutler Lab

Gene Symbol

Gm10093

Ensembl Gene

ENSMUSG00000061062

Gene Name

predicted pseudogene 10093

Synonyms

EG15181

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R8920 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78491565-78493541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78491742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 54 (Y54C)

Ref Sequence

ENSEMBL: ENSMUSP00000078339 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079363
AA Change: Y54C

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: Y54C

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: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,074,546	Q160L	probably benign	Het
Apc2	A	T	10: 80,314,100	I1663L	probably benign	Het
Bahcc1	C	G	11: 120,284,505	R1802G	probably damaging	Het
C1qtnf1	T	C	11: 118,448,242	V246A	possibly damaging	Het
Cbl	A	G	9: 44,167,273	M267T	probably damaging	Het
Cd300lf	T	C	11: 115,126,354	K48E	probably benign	Het
Cfap46	G	T	7: 139,652,526	N840K		Het
Cfap54	T	A	10: 92,940,337		probably null	Het
Cnrip1	A	C	11: 17,055,003	K184N	unknown	Het
Dnah11	A	T	12: 118,113,939	L1273Q	probably damaging	Het
Dyrk1a	T	G	16: 94,659,629	I48R	probably benign	Het
Exoc7	T	C	11: 116,289,229	E683G	probably benign	Het
Igtp	A	T	11: 58,206,173	I57F	probably damaging	Het
Inhbb	T	C	1: 119,417,377	N394S	probably damaging	Het
Jag1	T	C	2: 137,089,223	H663R	probably benign	Het
Kcna6	A	G	6: 126,739,647	F93S	probably damaging	Het
L1td1	C	A	4: 98,736,627	S353*	probably null	Het
Lgals12	T	C	19: 7,598,801	I253V	possibly damaging	Het
Lgals4	C	T	7: 28,840,864	R195C	probably benign	Het
Lrp1b	A	T	2: 42,323,598	D67E		Het
Lrrc43	T	C	5: 123,501,131	S408P	probably benign	Het
Madd	T	C	2: 91,176,823	I315V	probably benign	Het
Mdn1	T	C	4: 32,719,280	F2281S	probably damaging	Het
Med13l	A	T	5: 118,747,478	K1499*	probably null	Het
Myoc	A	G	1: 162,647,558	E226G	probably benign	Het
Nmur1	T	C	1: 86,387,855	Y96C	probably damaging	Het
Nwd2	A	T	5: 63,791,520	D145V	probably damaging	Het
Olfr830	C	A	9: 18,876,098	T254K	probably damaging	Het
Paqr8	A	T	1: 20,935,021	Q133L	probably damaging	Het
Plbd2	T	C	5: 120,492,850	D230G	probably damaging	Het
Plekha7	A	G	7: 116,144,983	I694T	probably benign	Het
Rnf139	C	T	15: 58,899,680	T518I	possibly damaging	Het
Ryr1	G	T	7: 29,090,215	S1498R	possibly damaging	Het
Senp6	T	A	9: 80,092,279	S72T	probably benign	Het
Slc12a7	C	T	13: 73,798,449	P554S	probably damaging	Het
Slc6a2	C	A	8: 92,961,362	R39S	probably benign	Het
Snrpe	T	G	1: 133,606,461	H88P	probably benign	Het
Stard9	T	A	2: 120,702,607	V3115E	probably damaging	Het
Stk39	C	T	2: 68,471,847	V11I	unknown	Het
Tapbpl	T	C	6: 125,228,251	Y244C	probably damaging	Het
Tpx2	A	G	2: 152,884,294	E393G	probably damaging	Het
Vmn2r100	A	T	17: 19,521,358	N111Y	probably damaging	Het
Vstm4	C	T	14: 32,863,658	R61C	probably damaging	Het
Washc2	T	A	6: 116,244,654	F698I	possibly damaging	Het
Zfp467	G	A	6: 48,438,480	P413S	probably benign	Het
Zfp532	G	T	18: 65,687,319	A992S	probably benign	Het
Zfp622	G	A	15: 25,996,235	W430*	probably null	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
R8002:Gm10093	UTSW	17	78492287	missense	probably damaging	0.99
R8728:Gm10093	UTSW	17	78492903	missense	probably benign	0.01
R8821:Gm10093	UTSW	17	78492540	missense	probably damaging	0.99
X0060:Gm10093	UTSW	17	78492128	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGCAAGATGGCGCAGACTC -3'
(R):5'- GATGTCCGTCTGCTGCTTATTAAG -3'

Sequencing Primer
(F):5'- ATGGCGCAGACTCAGGGC -3'
(R):5'- CTCCTGTGGACAACTGACAG -3'

Posted On

2021-08-02