Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Smg7'

222726

Institutional Source

Beutler Lab

Gene Symbol

Smg7

Ensembl Gene

ENSMUSG00000042772

Gene Name

Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)

Synonyms

9430023P16Rik

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152836995-152902646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152860508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 166 (N166K)

Ref Sequence

ENSEMBL: ENSMUSP00000107467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836]

AlphaFold

Q5RJH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043560
AA Change: N174K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: N174K

Domain	Start	End	E-Value	Type
Pfam:EST1	63	177	3.4e-30	PFAM
Pfam:EST1_DNA_bind	179	438	3.3e-64	PFAM
low complexity region	457	465	N/A	INTRINSIC
low complexity region	615	633	N/A	INTRINSIC
low complexity region	682	710	N/A	INTRINSIC
low complexity region	711	729	N/A	INTRINSIC
low complexity region	874	898	N/A	INTRINSIC
low complexity region	906	922	N/A	INTRINSIC
low complexity region	931	947	N/A	INTRINSIC
low complexity region	1008	1034	N/A	INTRINSIC
low complexity region	1126	1140	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073441
AA Change: N166K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: N166K

Domain	Start	End	E-Value	Type
Pfam:EST1	52	172	2.3e-26	PFAM
Pfam:EST1_DNA_bind	171	430	3.6e-66	PFAM
low complexity region	449	457	N/A	INTRINSIC
low complexity region	653	671	N/A	INTRINSIC
low complexity region	720	748	N/A	INTRINSIC
low complexity region	749	767	N/A	INTRINSIC
low complexity region	919	935	N/A	INTRINSIC
low complexity region	996	1022	N/A	INTRINSIC
low complexity region	1114	1128	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111836
AA Change: N166K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: N166K

Domain	Start	End	E-Value	Type
Pfam:EST1	52	172	2.3e-26	PFAM
Pfam:EST1_DNA_bind	171	430	3.7e-66	PFAM
low complexity region	449	457	N/A	INTRINSIC
low complexity region	607	625	N/A	INTRINSIC
low complexity region	674	702	N/A	INTRINSIC
low complexity region	703	721	N/A	INTRINSIC
low complexity region	866	890	N/A	INTRINSIC
low complexity region	898	914	N/A	INTRINSIC
low complexity region	923	939	N/A	INTRINSIC
low complexity region	1000	1026	N/A	INTRINSIC
low complexity region	1118	1132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186692

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	A	11: 101,987,218	H35Q	probably damaging	Het
1700015F17Rik	T	A	5: 5,455,964	I106L	probably benign	Het
Abca9	A	T	11: 110,131,846	M1022K	probably benign	Het
Abhd4	T	A	14: 54,262,832	H74Q	probably damaging	Het
Actg1	A	G	11: 120,346,810	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,767,878	G678S	probably benign	Het
Aire	T	C	10: 78,042,958	D85G	probably damaging	Het
Akr1c18	T	A	13: 4,145,309	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,792,109	A185E	probably damaging	Het
Apc	A	G	18: 34,315,591	I1813V	probably damaging	Het
Armc8	A	T	9: 99,483,105	C661*	probably null	Het
Bbs10	C	T	10: 111,300,855	Q610*	probably null	Het
Blm	T	C	7: 80,502,399	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
Cdk14	T	C	5: 5,380,082	K15R	probably benign	Het
Cdr1	A	G	X: 61,184,814	F249L	probably benign	Het
Cep250	A	C	2: 155,981,453	H1009P	probably damaging	Het
Clasp2	A	G	9: 113,911,500	T495A	possibly damaging	Het
Col19a1	C	G	1: 24,559,753	G53A	unknown	Het
Cpne1	G	A	2: 156,078,388	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,936,427	H129Y	probably benign	Het
Ercc3	A	G	18: 32,248,429	T433A	probably benign	Het
Gm9936	T	A	5: 114,857,421		probably benign	Het
Grina	T	C	15: 76,248,534	V167A	probably damaging	Het
Hcfc2	A	G	10: 82,738,980	N618D	probably benign	Het
Herpud1	T	C	8: 94,392,206	V196A	probably benign	Het
Hist3h2a	T	A	11: 58,954,928	L64Q	probably damaging	Het
Hlcs	A	G	16: 94,262,740	V487A	probably benign	Het
Hspa9	A	T	18: 34,946,648	Y243N	probably damaging	Het
Igll1	A	G	16: 16,863,775	S39P	probably benign	Het
Kdm5a	T	C	6: 120,431,990	S1545P	probably benign	Het
Klra8	C	A	6: 130,115,573	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,665,572	C110S	unknown	Het
Lef1	T	A	3: 131,111,587	I39N	probably damaging	Het
Lnpep	G	A	17: 17,579,063	T110I	probably damaging	Het
Lrp1	T	A	10: 127,540,694	T4282S	probably benign	Het
Lrp6	A	G	6: 134,480,374		probably null	Het
Ly6g5b	A	C	17: 35,114,678	S53A	possibly damaging	Het
M6pr	T	G	6: 122,313,373	N98K	probably damaging	Het
Mal2	T	C	15: 54,600,740	*176Q	probably null	Het
Mansc1	T	C	6: 134,610,311	D301G	possibly damaging	Het
March1	C	A	8: 66,121,821	N11K	probably damaging	Het
Mast3	T	A	8: 70,787,363	I338F	probably benign	Het
Mcm3	A	G	1: 20,803,580	L772P	probably damaging	Het
Mib2	C	T	4: 155,657,880	G176D	probably damaging	Het
Mier2	A	T	10: 79,541,202		probably null	Het
Mogs	C	T	6: 83,117,650	R483*	probably null	Het
Msl2	G	T	9: 101,075,251		probably benign	Het
Naa16	A	T	14: 79,345,059	M530K	probably damaging	Het
Nde1	A	T	16: 14,169,457		probably benign	Het
Ndufb10	T	C	17: 24,722,529		probably null	Het
Nhsl1	A	T	10: 18,511,592	R205W	probably damaging	Het
Npffr2	T	A	5: 89,582,892	I227N	probably damaging	Het
Nup210l	T	A	3: 90,185,432	L1231Q	probably damaging	Het
Olfr1355	T	C	10: 78,879,388	I72T	possibly damaging	Het
Olfr453	A	G	6: 42,744,850	E271G	probably damaging	Het
Pclo	C	A	5: 14,521,501	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 116,350,931		probably null	Het
Plekha5	T	A	6: 140,534,564		probably null	Het
Pls1	A	G	9: 95,761,365	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,474,677	M15T	probably benign	Het
Prkd2	T	A	7: 16,847,677	C152*	probably null	Het
Ptprq	T	G	10: 107,667,422	K792Q	probably damaging	Het
Rbbp8	T	C	18: 11,720,624	M296T	probably benign	Het
Rfc3	T	C	5: 151,647,538		probably null	Het
Rnf17	A	G	14: 56,486,969	N1090S	probably benign	Het
Sash1	A	T	10: 8,729,413	V1071D	probably benign	Het
Sdsl	G	A	5: 120,463,153	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,647,624	Q365L	probably benign	Het
Sgta	A	T	10: 81,051,296	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,609,725	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,981,380	V136G	probably benign	Het
Spata21	C	T	4: 141,107,329	Q505*	probably null	Het
Strn4	T	C	7: 16,833,028	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,299,684	T248M	probably damaging	Het
Trabd	T	A	15: 89,084,726	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,279,827	N178Y	probably damaging	Het
Try5	C	T	6: 41,314,651		probably null	Het
Tsg101	C	T	7: 46,908,904		probably null	Het
Ube3b	A	G	5: 114,411,149	E738G	probably damaging	Het
Unc13d	A	G	11: 116,068,755	S631P	probably damaging	Het
Unc5d	T	C	8: 28,758,979	T297A	probably damaging	Het
Usp18	A	T	6: 121,268,550	E1V	probably damaging	Het
Vapb	C	A	2: 173,771,598	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,612,372	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,315,995	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,620,637	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,142	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,338	G182C	possibly damaging	Het
Wdfy3	A	C	5: 101,860,486	S2778A	probably null	Het
Zbtb2	T	A	10: 4,369,757	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,672,002	V887F	probably benign	Het
Zfp790	A	G	7: 29,828,861	T324A	probably benign	Het
Zufsp	A	G	10: 33,929,824	V437A	possibly damaging	Het

Other mutations in Smg7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01751:Smg7	APN	1	152844061	missense	possibly damaging	0.68
IGL02320:Smg7	APN	1	152868337	missense	possibly damaging	0.49
IGL02336:Smg7	APN	1	152843279	missense	probably benign
IGL02680:Smg7	APN	1	152845394	missense	probably benign	0.15
IGL03232:Smg7	APN	1	152840156	missense	probably damaging	1.00
chill	UTSW	1	152840136	splice site	probably null
R0322:Smg7	UTSW	1	152849873	critical splice donor site	probably null
R0540:Smg7	UTSW	1	152855962	missense	probably benign	0.00
R0685:Smg7	UTSW	1	152866648	missense	probably damaging	1.00
R0707:Smg7	UTSW	1	152870757	splice site	probably null
R1109:Smg7	UTSW	1	152845583	missense	probably damaging	1.00
R1118:Smg7	UTSW	1	152866575	splice site	probably benign
R1119:Smg7	UTSW	1	152866575	splice site	probably benign
R1458:Smg7	UTSW	1	152855843	splice site	probably null
R1759:Smg7	UTSW	1	152848846	missense	probably benign	0.20
R1846:Smg7	UTSW	1	152848850	missense	probably damaging	1.00
R2155:Smg7	UTSW	1	152840313	missense	possibly damaging	0.49
R2199:Smg7	UTSW	1	152854328	missense	probably damaging	1.00
R2234:Smg7	UTSW	1	152868313	missense	probably damaging	1.00
R2235:Smg7	UTSW	1	152868313	missense	probably damaging	1.00
R3861:Smg7	UTSW	1	152852598	missense	probably null	1.00
R4597:Smg7	UTSW	1	152840301	critical splice donor site	probably null
R4672:Smg7	UTSW	1	152845413	missense	probably damaging	1.00
R4851:Smg7	UTSW	1	152844269	missense	probably benign	0.00
R5486:Smg7	UTSW	1	152846176	missense	probably damaging	0.97
R5607:Smg7	UTSW	1	152843234	missense	probably damaging	0.98
R6131:Smg7	UTSW	1	152845211	critical splice donor site	probably null
R6396:Smg7	UTSW	1	152848600	missense	probably benign	0.33
R6401:Smg7	UTSW	1	152840136	splice site	probably null
R6905:Smg7	UTSW	1	152850006	splice site	probably null
R6961:Smg7	UTSW	1	152841583	nonsense	probably null
R7051:Smg7	UTSW	1	152848850	missense	probably damaging	1.00
R7124:Smg7	UTSW	1	152878080	missense	probably benign	0.01
R7146:Smg7	UTSW	1	152861825	missense	probably benign	0.34
R7573:Smg7	UTSW	1	152859489	missense	probably damaging	1.00
R7578:Smg7	UTSW	1	152845430	missense	probably damaging	1.00
R7621:Smg7	UTSW	1	152841544	missense	possibly damaging	0.95
R7956:Smg7	UTSW	1	152844202	missense	probably benign	0.02
R8167:Smg7	UTSW	1	152844372	missense	possibly damaging	0.90
R8751:Smg7	UTSW	1	152843378	missense	probably damaging	0.99
R8905:Smg7	UTSW	1	152840066	missense	probably damaging	1.00
R9082:Smg7	UTSW	1	152840177	missense	probably damaging	0.96
R9229:Smg7	UTSW	1	152845220	missense	possibly damaging	0.72
R9260:Smg7	UTSW	1	152861798	missense	probably damaging	1.00
R9262:Smg7	UTSW	1	152845511	missense	probably damaging	1.00
R9323:Smg7	UTSW	1	152856002	missense	probably benign	0.01
R9519:Smg7	UTSW	1	152859445	missense	probably damaging	1.00
R9732:Smg7	UTSW	1	152860461	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTACTGCTACAATACACTTGG -3'
(R):5'- TTACTGCTGAGTGTCCAAGGAG -3'

Sequencing Primer
(F):5'- TGGAAAGTGGAATCTATTTGCTAGAG -3'
(R):5'- CTGAGTGTCCAAGGAGACGGC -3'

Posted On

2014-08-25