Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03204:Smg9'

413087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smg9

Ensembl Gene

ENSMUSG00000002210

Gene Name

SMG9 nonsense mediated mRNA decay factor

Synonyms

smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans), 1500002O20Rik, N28092

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03204

Quality Score

Status

Chromosome

Chromosomal Location

24099106-24122197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24120337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 437 (E437G)

Ref Sequence

ENSEMBL: ENSMUSP00000002280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002280]

AlphaFold

Q9DB90

Predicted Effect

probably benign
Transcript: ENSMUST00000002280
AA Change: E437G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000002280
Gene: ENSMUSG00000002210
AA Change: E437G

Domain	Start	End	E-Value	Type
low complexity region	79	93	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
Pfam:DUF2146	199	373	3.7e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000123188
AA Change: E112G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148288

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a severe hypomorphic allele exhibit edema, hemorrhage, exencephaly, preaxial polydactyly, reduced size and growth, decreased mid- and hindrain size, microphthalmia, thin myocardium and atrioventricular septal defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14a	A	T	9: 106,317,834 (GRCm39)	F191I	probably damaging	Het
Actc1	A	T	2: 113,880,011 (GRCm39)	S201T	possibly damaging	Het
Ankrd36	T	A	11: 5,534,023 (GRCm39)	D291E	possibly damaging	Het
Bltp1	A	G	3: 37,105,083 (GRCm39)		probably benign	Het
Btbd7	T	A	12: 102,774,239 (GRCm39)	R510*	probably null	Het
Cfap20dc	A	G	14: 8,644,436 (GRCm38)	I80T	possibly damaging	Het
Eif4a3	A	T	11: 119,184,442 (GRCm39)	D249E	possibly damaging	Het
Elovl6	A	G	3: 129,426,993 (GRCm39)	M220V	probably benign	Het
Ets1	C	T	9: 32,644,308 (GRCm39)	S156L	possibly damaging	Het
Gja8	C	T	3: 96,827,408 (GRCm39)	V85I	probably damaging	Het
Glipr2	T	A	4: 43,970,507 (GRCm39)	D7E	probably benign	Het
Il22	C	T	10: 118,041,085 (GRCm39)		probably benign	Het
Itln1	A	G	1: 171,358,172 (GRCm39)	V80A	probably damaging	Het
Kdr	A	T	5: 76,133,042 (GRCm39)	C79S	possibly damaging	Het
Kif26a	A	T	12: 112,141,213 (GRCm39)	H672L	probably damaging	Het
Klhl40	A	T	9: 121,611,696 (GRCm39)	T570S	probably benign	Het
Macf1	A	G	4: 123,249,070 (GRCm39)		probably benign	Het
Magi3	T	A	3: 104,013,151 (GRCm39)	N112I	probably damaging	Het
Moxd2	T	C	6: 40,864,239 (GRCm39)	T64A	probably benign	Het
Myh4	T	C	11: 67,141,122 (GRCm39)	V728A	possibly damaging	Het
Or8u10	G	T	2: 85,916,015 (GRCm39)	Y35*	probably null	Het
Prkdc	A	G	16: 15,587,665 (GRCm39)	I2517V	probably benign	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Snx4	A	G	16: 33,090,039 (GRCm39)	K188R	probably benign	Het
Sox14	A	G	9: 99,757,110 (GRCm39)	S210P	probably benign	Het
Spata1	A	G	3: 146,194,434 (GRCm39)	F77L	probably benign	Het
Spata18	G	T	5: 73,828,449 (GRCm39)		probably benign	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Wdr59	T	C	8: 112,212,002 (GRCm39)	H356R	probably benign	Het
Zfp462	A	G	4: 55,080,785 (GRCm39)	D1380G	possibly damaging	Het

Other mutations in Smg9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Smg9	APN	7	24,116,376 (GRCm39)	missense	probably damaging	1.00
IGL01432:Smg9	APN	7	24,120,691 (GRCm39)	critical splice donor site	probably null
IGL01869:Smg9	APN	7	24,115,949 (GRCm39)	missense	probably damaging	1.00
IGL02376:Smg9	APN	7	24,114,455 (GRCm39)	missense	probably benign	0.01
IGL03175:Smg9	APN	7	24,121,730 (GRCm39)	missense	probably damaging	1.00
R0318:Smg9	UTSW	7	24,120,313 (GRCm39)	missense	possibly damaging	0.80
R0578:Smg9	UTSW	7	24,114,468 (GRCm39)	missense	probably damaging	1.00
R0786:Smg9	UTSW	7	24,120,289 (GRCm39)	missense	probably benign	0.03
R2043:Smg9	UTSW	7	24,105,001 (GRCm39)	missense	possibly damaging	0.92
R2355:Smg9	UTSW	7	24,119,546 (GRCm39)	critical splice donor site	probably null
R3033:Smg9	UTSW	7	24,115,949 (GRCm39)	missense	probably damaging	1.00
R4091:Smg9	UTSW	7	24,120,292 (GRCm39)	missense	probably null	0.01
R4773:Smg9	UTSW	7	24,107,019 (GRCm39)	missense	possibly damaging	0.84
R5023:Smg9	UTSW	7	24,105,297 (GRCm39)	missense	possibly damaging	0.94
R5517:Smg9	UTSW	7	24,114,338 (GRCm39)	unclassified	probably benign
R6320:Smg9	UTSW	7	24,120,286 (GRCm39)	missense	probably benign
R6394:Smg9	UTSW	7	24,121,732 (GRCm39)	missense	probably damaging	1.00
R7156:Smg9	UTSW	7	24,120,286 (GRCm39)	missense	probably benign
R7269:Smg9	UTSW	7	24,105,495 (GRCm39)	missense	possibly damaging	0.88
R7311:Smg9	UTSW	7	24,120,058 (GRCm39)	missense	probably benign	0.14
R8972:Smg9	UTSW	7	24,120,055 (GRCm39)	missense	probably benign	0.04
R9323:Smg9	UTSW	7	24,114,465 (GRCm39)	missense	probably damaging	1.00
R9589:Smg9	UTSW	7	24,120,246 (GRCm39)	missense	probably damaging	1.00
R9707:Smg9	UTSW	7	24,102,869 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02