Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Gm1110'

426127

Institutional Source

Beutler Lab

Gene Symbol

Gm1110

Ensembl Gene

ENSMUSG00000079644

Gene Name

predicted gene 1110

Synonyms

LOC382064

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26879567-26923111 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26889632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 422 (E422G)

Ref Sequence

ENSEMBL: ENSMUSP00000110916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115261]

AlphaFold

F6Y113

Predicted Effect

probably benign
Transcript: ENSMUST00000115261
AA Change: E422G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: E422G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_35	55	368	2e-93	PFAM
Pfam:Glyco_hydro_42	70	229	1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217197

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,080,941	I268V	probably benign	Het
Actn1	T	A	12: 80,170,703	I782F	probably benign	Het
Adamdec1	A	C	14: 68,570,903	S333A	probably benign	Het
Agbl5	C	A	5: 30,890,338	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,414,493		noncoding transcript	Het
Arhgef10l	T	C	4: 140,570,290	N277S	probably benign	Het
Ascc2	A	G	11: 4,659,273	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,420,888	Y835*	probably null	Het
Atp13a4	A	G	16: 29,456,604	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,825,249	S426P	probably damaging	Het
Birc3	T	C	9: 7,861,174	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,271,418	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,269,398	M91T	possibly damaging	Het
Clk3	G	A	9: 57,753,339	T473M	probably damaging	Het
Cog2	T	A	8: 124,545,221	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,669,853	T202I	probably benign	Het
Dennd1a	A	T	2: 37,802,128	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,598,720	A170D	possibly damaging	Het
Fev	T	C	1: 74,882,664		probably null	Het
Flnb	A	G	14: 7,883,881	N369S	probably benign	Het
Flt3	A	G	5: 147,354,823	F606L	probably damaging	Het
Gdf9	T	C	11: 53,433,797	V131A	probably benign	Het
Gdnf	T	A	15: 7,834,684	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,177,489	C56S	possibly damaging	Het
Gli3	T	C	13: 15,714,950	F550L	probably damaging	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,528,526	S334P	probably damaging	Het
Icam2	A	T	11: 106,382,473		probably null	Het
Inca1	C	T	11: 70,690,438		probably null	Het
Itgb8	A	C	12: 119,170,741	C530W	probably damaging	Het
Lrp1	T	C	10: 127,595,297	D332G	probably damaging	Het
Ly75	A	T	2: 60,365,111	N234K	probably benign	Het
Mcm5	G	A	8: 75,123,026	S542N	probably benign	Het
Mcm9	A	T	10: 53,538,692	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,688,232	R986H	possibly damaging	Het
Neu2	T	A	1: 87,596,675		probably null	Het
Nfatc1	G	A	18: 80,636,020	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392		probably benign	Het
Olfr1406	A	T	1: 173,183,680	Y251*	probably null	Het
Otogl	T	C	10: 107,817,138	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,185,287	I111K	probably damaging	Het
Phkb	A	G	8: 86,017,468	D582G	probably damaging	Het
Piwil2	G	T	14: 70,395,397	N575K	probably benign	Het
Pou4f2	T	A	8: 78,435,072	I301F	probably damaging	Het
Prkd1	T	C	12: 50,391,432	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,715,117	K86T	probably damaging	Het
Raly	T	A	2: 154,864,007		probably null	Het
Rangap1	A	G	15: 81,706,446	F482L	probably benign	Het
Rapgef1	T	A	2: 29,737,965	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,935,160		probably null	Het
Sdr16c5	T	C	4: 4,016,277	S50G	probably benign	Het
Sin3a	G	A	9: 57,105,673	R612H	probably damaging	Het
Six6	T	A	12: 72,941,701	L216*	probably null	Het
Slc20a1	A	T	2: 129,208,337	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,211,375		probably null	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,733,277	G306*	probably null	Het
Slc9a8	T	A	2: 167,467,722	F335L	probably damaging	Het
Smyd1	T	G	6: 71,219,390	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,184	V187E	probably damaging	Het
Spag9	T	G	11: 94,091,751		probably null	Het
Tnfsf9	C	A	17: 57,105,592	T54K	probably benign	Het
Trim24	T	G	6: 37,957,744	V798G	probably damaging	Het
Tyr	C	A	7: 87,472,490	A365S	probably damaging	Het
Usp43	T	A	11: 67,897,358		probably null	Het
Vmn2r55	T	C	7: 12,651,947	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,750,897	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,755,598	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,772,501	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,783,846	C21*	probably null	Het
Zfp825	T	C	13: 74,480,546	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,558,213	V275D	probably damaging	Het

Other mutations in Gm1110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gm1110	APN	9	26880874	nonsense	probably null
IGL01089:Gm1110	APN	9	26881860	missense	probably benign
IGL01631:Gm1110	APN	9	26897916	critical splice donor site	probably null
IGL02008:Gm1110	APN	9	26883230	missense	probably benign	0.09
IGL02331:Gm1110	APN	9	26913287	critical splice donor site	probably null
IGL02335:Gm1110	APN	9	26881763	missense	probably benign	0.00
IGL02550:Gm1110	APN	9	26881834	missense	probably benign	0.09
IGL02614:Gm1110	APN	9	26920714	missense	probably benign	0.11
IGL03409:Gm1110	APN	9	26896620	missense	probably benign	0.21
PIT4458001:Gm1110	UTSW	9	26880828	missense	probably benign	0.00
R0189:Gm1110	UTSW	9	26883218	missense	probably null	0.99
R0271:Gm1110	UTSW	9	26920666	missense	probably damaging	1.00
R1034:Gm1110	UTSW	9	26921350	missense	probably damaging	1.00
R1229:Gm1110	UTSW	9	26881806	missense	probably benign
R1355:Gm1110	UTSW	9	26883761	missense	probably benign	0.01
R1566:Gm1110	UTSW	9	26880870	missense	probably damaging	1.00
R1574:Gm1110	UTSW	9	26881126	splice site	probably benign
R1916:Gm1110	UTSW	9	26889638	missense	probably damaging	1.00
R2011:Gm1110	UTSW	9	26894258	missense	probably benign	0.01
R2214:Gm1110	UTSW	9	26902490	missense	probably benign	0.37
R2567:Gm1110	UTSW	9	26920696	missense	probably benign
R2967:Gm1110	UTSW	9	26881043	missense	probably benign	0.05
R4271:Gm1110	UTSW	9	26895648	critical splice donor site	probably null
R4683:Gm1110	UTSW	9	26920594	missense	probably damaging	0.99
R4945:Gm1110	UTSW	9	26920595	missense	possibly damaging	0.46
R5015:Gm1110	UTSW	9	26881866	missense	probably benign	0.01
R5089:Gm1110	UTSW	9	26882387	missense	probably damaging	0.96
R5225:Gm1110	UTSW	9	26902478	missense	probably damaging	1.00
R5239:Gm1110	UTSW	9	26893570	missense	probably benign	0.00
R5783:Gm1110	UTSW	9	26882336	missense	probably benign
R6045:Gm1110	UTSW	9	26883209	critical splice donor site	probably null
R6245:Gm1110	UTSW	9	26920747	missense	probably benign	0.04
R6357:Gm1110	UTSW	9	26914128	splice site	probably null
R6863:Gm1110	UTSW	9	26881064	missense	probably damaging	1.00
R7336:Gm1110	UTSW	9	26914357	missense	probably damaging	0.99
R7454:Gm1110	UTSW	9	26920649	missense	probably benign
R7555:Gm1110	UTSW	9	26893628	missense	probably benign	0.05
R7579:Gm1110	UTSW	9	26883826	missense	possibly damaging	0.93
R7990:Gm1110	UTSW	9	26880841	missense	possibly damaging	0.66
R8062:Gm1110	UTSW	9	26881821	missense	probably damaging	0.99
R8108:Gm1110	UTSW	9	26920661	missense	probably damaging	1.00
R8323:Gm1110	UTSW	9	26902423	critical splice donor site	probably null
R8354:Gm1110	UTSW	9	26883280	missense	probably benign	0.01
R8354:Gm1110	UTSW	9	26883281	missense	probably benign	0.00
R8454:Gm1110	UTSW	9	26883280	missense	probably benign	0.01
R8454:Gm1110	UTSW	9	26883281	missense	probably benign	0.00
R8494:Gm1110	UTSW	9	26880858	missense	probably benign	0.04
R8978:Gm1110	UTSW	9	26895799	splice site	probably benign
R9321:Gm1110	UTSW	9	26920595	missense	probably benign	0.00
R9513:Gm1110	UTSW	9	26883787	missense	possibly damaging	0.95
R9545:Gm1110	UTSW	9	26889681	missense	probably benign	0.00
R9758:Gm1110	UTSW	9	26889598	nonsense	probably null
RF002:Gm1110	UTSW	9	26920640	missense	probably damaging	1.00
X0063:Gm1110	UTSW	9	26894280	missense	probably benign	0.01
Z1088:Gm1110	UTSW	9	26913310	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTGCACTTAGACATTTACCTCAG -3'
(R):5'- TACGAGATTGGTTGGAAAGCC -3'

Sequencing Primer
(F):5'- TGACCCCTTGATGTGATG -3'
(R):5'- AACATGATTGTCCTTGTGTAGTCC -3'

Posted On

2016-08-04