Mutagenetix > Incidental Mutation

Incidental Mutation 'R4342:Gm996'

324153

Institutional Source

Beutler Lab

Gene Symbol

Gm996

Ensembl Gene

ENSMUSG00000029419

Gene Name

predicted gene 996

Synonyms

LOC381353

MMRRC Submission

041100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25575416-25581757 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25579108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 264 (Y264H)

Ref Sequence

ENSEMBL: ENSMUSP00000140109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000187017] [ENSMUST00000188161] [ENSMUST00000191602]

AlphaFold

A2AJA9

Predicted Effect

probably benign
Transcript: ENSMUST00000039156

SMART Domains

Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504

Domain	Start	End	E-Value	Type
Pfam:Ocnus	5	116	1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058137

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

Domain	Start	End	E-Value	Type
Pfam:Ras	45	108	1.5e-7	PFAM
Pfam:Roc	45	112	2.2e-8	PFAM
low complexity region	232	245	N/A	INTRINSIC
low complexity region	291	325	N/A	INTRINSIC
low complexity region	343	364	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
coiled coil region	653	669	N/A	INTRINSIC
low complexity region	708	720	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114217
AA Change: Y264H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: Y264H

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181730

Predicted Effect

probably benign
Transcript: ENSMUST00000187017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188161
AA Change: Y264H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: Y264H

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191602
AA Change: Y264H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: Y264H

Domain	Start	End	E-Value	Type
low complexity region	61	92	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	617	636	N/A	INTRINSIC
low complexity region	815	843	N/A	INTRINSIC
low complexity region	880	894	N/A	INTRINSIC

Meta Mutation Damage Score

0.1167

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,495	C488R	probably benign	Het
Adamts19	A	T	18: 58,942,500	H489L	probably damaging	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Arhgap44	G	A	11: 65,012,061	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,559,688		noncoding transcript	Het
Ccdc174	T	A	6: 91,885,356	L86*	probably null	Het
Cd38	A	C	5: 43,869,089	I72L	probably benign	Het
Cers4	T	C	8: 4,521,223	L264P	probably damaging	Het
Cldn23	A	G	8: 35,825,498	S279P	probably benign	Het
Cth	T	A	3: 157,924,976	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,104,464	L330*	probably null	Het
Epas1	G	A	17: 86,823,800	C336Y	probably damaging	Het
Evi5l	A	C	8: 4,183,492		probably benign	Het
Fam71b	A	G	11: 46,407,216	D449G	possibly damaging	Het
Fbxl2	A	T	9: 113,985,306	H272Q	probably benign	Het
Fgd3	C	T	13: 49,273,709		probably null	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fscn1	T	C	5: 142,972,021	Y308H	probably damaging	Het
Gm5878	G	A	6: 85,125,651	R31*	probably null	Het
Gpatch2l	T	C	12: 86,260,679	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561	M1385K	probably benign	Het
Grin2a	A	G	16: 9,653,589	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,954,671	S49F	probably damaging	Het
Igf2r	C	T	17: 12,709,511	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,523,504	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,988,729	T614S	probably benign	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Mast4	A	G	13: 102,774,248	V461A	probably damaging	Het
Mcts2	G	A	2: 152,687,664	V132M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Nbeal2	A	G	9: 110,631,793		probably benign	Het
Nek4	T	C	14: 30,953,906	V66A	probably damaging	Het
Nfasc	A	G	1: 132,631,705	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,526,689	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,771,814	K118Q	probably damaging	Het
Ntm	T	C	9: 29,109,431	E164G	probably damaging	Het
Olfr576	A	G	7: 102,966,024	N308S	probably benign	Het
Parp1	G	T	1: 180,587,329	A411S	probably benign	Het
Pds5b	A	G	5: 150,800,854	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,058,617	V3954A	probably benign	Het
Pkp4	A	T	2: 59,350,608	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,186,446		probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Ralgds	T	C	2: 28,552,095	L96P	probably damaging	Het
Rbm6	A	T	9: 107,847,247		probably benign	Het
Scp2d1	T	C	2: 144,824,167	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,111,320		probably benign	Het
Sgf29	G	A	7: 126,671,777	C143Y	probably damaging	Het
Slc22a12	A	G	19: 6,541,099	I156T	probably benign	Het
Stambpl1	A	G	19: 34,234,046	Q169R	probably benign	Het
Tex2	T	C	11: 106,567,006		probably benign	Het
Trip11	A	T	12: 101,884,316	I878N	probably damaging	Het
Ttf1	C	T	2: 29,065,476	S284L	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,139,723	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,233,823	Y85N	probably benign	Het
Wdyhv1	T	C	15: 58,152,714	S120P	probably benign	Het
Zfp131	C	T	13: 119,776,018	R268H	probably damaging	Het

Other mutations in Gm996

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Gm996	APN	2	25579407	missense	probably damaging	0.97
IGL01370:Gm996	APN	2	25578957	missense	possibly damaging	0.82
IGL01973:Gm996	APN	2	25579572	nonsense	probably null
IGL01987:Gm996	APN	2	25577958	missense	possibly damaging	0.82
IGL02534:Gm996	APN	2	25577031	nonsense	probably null
R0457:Gm996	UTSW	2	25578346	missense	possibly damaging	0.66
R0799:Gm996	UTSW	2	25578562	missense	possibly damaging	0.83
R0931:Gm996	UTSW	2	25578489	missense	possibly damaging	0.82
R1243:Gm996	UTSW	2	25578558	missense	possibly damaging	0.66
R1477:Gm996	UTSW	2	25579753	missense	possibly damaging	0.66
R1559:Gm996	UTSW	2	25577031	nonsense	probably null
R1661:Gm996	UTSW	2	25579155	missense	possibly damaging	0.90
R1796:Gm996	UTSW	2	25577988	missense	probably damaging	1.00
R3955:Gm996	UTSW	2	25577571	nonsense	probably null
R4005:Gm996	UTSW	2	25578856	missense	probably benign	0.01
R4579:Gm996	UTSW	2	25579649	missense	possibly damaging	0.66
R4621:Gm996	UTSW	2	25578400	missense	probably damaging	0.96
R4770:Gm996	UTSW	2	25579747	missense	possibly damaging	0.94
R4834:Gm996	UTSW	2	25579518	missense	possibly damaging	0.82
R4860:Gm996	UTSW	2	25578753	missense	probably damaging	0.99
R4860:Gm996	UTSW	2	25578753	missense	probably damaging	0.99
R4887:Gm996	UTSW	2	25579747	missense	possibly damaging	0.94
R4888:Gm996	UTSW	2	25579747	missense	possibly damaging	0.94
R5472:Gm996	UTSW	2	25579702	missense	probably benign
R5632:Gm996	UTSW	2	25579264	missense	probably benign
R6816:Gm996	UTSW	2	25579721	frame shift	probably null
R6818:Gm996	UTSW	2	25579721	frame shift	probably null
R6861:Gm996	UTSW	2	25579721	frame shift	probably null
R7164:Gm996	UTSW	2	25578567	missense	possibly damaging	0.66
R7543:Gm996	UTSW	2	25577398	missense	possibly damaging	0.81
R7748:Gm996	UTSW	2	25578959	missense	possibly damaging	0.46
R7783:Gm996	UTSW	2	25577808	missense	probably damaging	0.97
R7826:Gm996	UTSW	2	25578465	missense	possibly damaging	0.66
R8117:Gm996	UTSW	2	25579234	missense	probably benign	0.27
R8694:Gm996	UTSW	2	25579819	missense	possibly damaging	0.83
R8708:Gm996	UTSW	2	25577802	missense	possibly damaging	0.66
R8830:Gm996	UTSW	2	25577250	missense
R8904:Gm996	UTSW	2	25577902	missense	probably benign	0.27
R8928:Gm996	UTSW	2	25578565	missense	possibly damaging	0.92
R9253:Gm996	UTSW	2	25577160	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GTACTTCGCCAGCATAGTAGC -3'
(R):5'- TTTGGACATCAAGCCGGAC -3'

Sequencing Primer
(F):5'- ATAGTAGCTGCCCCCACG -3'
(R):5'- CGAAGCTCGCGATCTTGC -3'

Posted On

2015-06-24