Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Gm15448'

545906

Institutional Source

Beutler Lab

Gene Symbol

Gm15448

Ensembl Gene

ENSMUSG00000074419

Gene Name

predicted gene 15448

Synonyms

ENSMUSG00000074419

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3816781-3825687 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3821262 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 629 (K629*)

Ref Sequence

ENSEMBL: ENSMUSP00000140974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]

Predicted Effect

probably benign
Transcript: ENSMUST00000094911

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108619

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG_like	429	517	6.02e0	SMART
IG	529	618	8.01e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108620

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART
low complexity region	538	547	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000153846
AA Change: K631*

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: K631*

Domain	Start	End	E-Value	Type
IG	7	96	8.01e-3	SMART
low complexity region	132	141	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000189095
AA Change: K629*

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: K629*

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG_like	40	105	1.3e-2	SMART
IG	129	315	5.7e-4	SMART
IG_like	237	302	9e-4	SMART
IG	328	415	2.6e-3	SMART
IG_like	429	517	2.4e-2	SMART
IG	529	618	3.3e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Gm15448

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Gm15448	APN	7	3823089	missense	probably damaging	1.00
IGL01675:Gm15448	APN	7	3822608	splice site	probably benign
IGL02040:Gm15448	APN	7	3821517	splice site	probably benign
IGL02547:Gm15448	APN	7	3821661	missense	probably damaging	0.98
IGL02749:Gm15448	APN	7	3822625	missense	probably damaging	1.00
IGL02822:Gm15448	APN	7	3816918	missense	possibly damaging	0.50
IGL02883:Gm15448	APN	7	3822180	missense	possibly damaging	0.95
IGL03140:Gm15448	APN	7	3823248	missense	probably benign	0.00
IGL03185:Gm15448	APN	7	3823230	missense	probably damaging	1.00
IGL03212:Gm15448	APN	7	3823133	missense	probably benign	0.00
R0347:Gm15448	UTSW	7	3822874	missense	probably damaging	1.00
R0652:Gm15448	UTSW	7	3822763	missense	probably benign	0.02
R0668:Gm15448	UTSW	7	3822700	missense	probably damaging	0.99
R0724:Gm15448	UTSW	7	3816872	missense	possibly damaging	0.83
R0735:Gm15448	UTSW	7	3821782	missense	possibly damaging	0.79
R1074:Gm15448	UTSW	7	3823070	missense	probably damaging	1.00
R1339:Gm15448	UTSW	7	3822156	missense	probably damaging	1.00
R1541:Gm15448	UTSW	7	3816989	missense	probably damaging	1.00
R1570:Gm15448	UTSW	7	3823061	missense	probably benign	0.45
R1880:Gm15448	UTSW	7	3824951	critical splice donor site	probably null
R1892:Gm15448	UTSW	7	3824574	missense	probably benign	0.15
R1909:Gm15448	UTSW	7	3822919	missense	probably benign	0.31
R2881:Gm15448	UTSW	7	3825641	start codon destroyed	probably null	0.98
R2967:Gm15448	UTSW	7	3822687	missense	probably damaging	1.00
R2983:Gm15448	UTSW	7	3821575	missense	probably damaging	1.00
R4213:Gm15448	UTSW	7	3821554	missense	probably damaging	1.00
R4319:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4320:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4321:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4322:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4323:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4536:Gm15448	UTSW	7	3822252	missense	probably benign	0.00
R4597:Gm15448	UTSW	7	3822155	missense	possibly damaging	0.81
R4713:Gm15448	UTSW	7	3822681	nonsense	probably null
R4725:Gm15448	UTSW	7	3821548	missense	probably benign
R4934:Gm15448	UTSW	7	3822677	missense	probably damaging	1.00
R4971:Gm15448	UTSW	7	3822806	missense	probably benign	0.00
R5138:Gm15448	UTSW	7	3824557	nonsense	probably null
R5805:Gm15448	UTSW	7	3822623	missense	probably benign	0.15
R5824:Gm15448	UTSW	7	3824754	missense	probably damaging	1.00
R5841:Gm15448	UTSW	7	3822899	nonsense	probably null
R6027:Gm15448	UTSW	7	3824639	missense	possibly damaging	0.94
R6214:Gm15448	UTSW	7	3821718	missense	probably damaging	0.99
R6329:Gm15448	UTSW	7	3822851	missense	probably damaging	1.00
R6429:Gm15448	UTSW	7	3822346	missense	possibly damaging	0.63
R6650:Gm15448	UTSW	7	3816899	missense	possibly damaging	0.83
R6681:Gm15448	UTSW	7	3822252	missense	probably benign	0.00
R6961:Gm15448	UTSW	7	3825125	missense	probably damaging	1.00
R6989:Gm15448	UTSW	7	3822164	missense	possibly damaging	0.95
R7071:Gm15448	UTSW	7	3821668	missense	unknown
R7194:Gm15448	UTSW	7	3824793	missense
R7215:Gm15448	UTSW	7	3822311	missense	unknown
R7580:Gm15448	UTSW	7	3824612	missense	unknown
R7776:Gm15448	UTSW	7	3823247	missense	unknown
R7863:Gm15448	UTSW	7	3824802	critical splice acceptor site	probably null
R7909:Gm15448	UTSW	7	3821709	missense	unknown
R8131:Gm15448	UTSW	7	3822162	nonsense	probably null
R8178:Gm15448	UTSW	7	3821261	missense	unknown
R8188:Gm15448	UTSW	7	3823127	missense	unknown
R8220:Gm15448	UTSW	7	3822904	missense	unknown
R8226:Gm15448	UTSW	7	3825110	missense
R8441:Gm15448	UTSW	7	3823302	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAAGTGGAGGCTCAATGC -3'
(R):5'- GGACATAAGGCACATTCCTGAG -3'

Sequencing Primer
(F):5'- TTCTGTAGCCCAACAGTTAAGC -3'
(R):5'- GGCACATTCCTGAGCAAATAACTGG -3'

Posted On

2019-05-13