Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Gm10093'

255496

Institutional Source

Beutler Lab

Gene Symbol

Gm10093

Ensembl Gene

ENSMUSG00000061062

Gene Name

predicted pseudogene 10093

Synonyms

EG15181

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78491565-78493541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78492846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 422 (D422G)

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: D422G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: D422G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	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
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
R8920:Gm10093	UTSW	17	78491742	missense	probably benign	0.37
R9618:Gm10093	UTSW	17	78491685	missense	probably damaging	1.00
R9649:Gm10093	UTSW	17	78491646	missense	probably benign	0.03
X0060:Gm10093	UTSW	17	78492128	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAAGCTTCACATCAGCCC -3'
(R):5'- CTTGCTCAGGCCAACTTGAC -3'

Sequencing Primer
(F):5'- GATCAAGCAGCGTCTCTTTGAGAAC -3'
(R):5'- CAGGCCAACTTGACCTCTTC -3'

Posted On

2014-12-29