Mutagenetix > Incidental Mutation

Incidental Mutation 'R8972:Smg9'

683166

Institutional Source

Beutler Lab

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

MMRRC Submission

068806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24099106-24122197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24120055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 386 (Q386L)

Ref Sequence

ENSEMBL: ENSMUSP00000002280 (fasta)

Gene Model

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

AlphaFold

Q9DB90

Predicted Effect

probably benign
Transcript: ENSMUST00000002280
AA Change: Q386L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002280
Gene: ENSMUSG00000002210
AA Change: Q386L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (70/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,278,138 (GRCm39)	S3106F	probably damaging	Het
Acss1	G	T	2: 150,484,809 (GRCm39)	R145S	probably damaging	Het
Acss3	T	C	10: 106,920,783 (GRCm39)	Y109C	probably damaging	Het
Adgre4	G	T	17: 56,109,189 (GRCm39)	G399C	probably damaging	Het
Alpk1	A	G	3: 127,473,232 (GRCm39)	S924P	probably damaging	Het
Anapc4	T	A	5: 53,007,884 (GRCm39)	D382E	possibly damaging	Het
Arfgef2	C	T	2: 166,709,253 (GRCm39)	A1110V	possibly damaging	Het
Arhgap20	T	C	9: 51,760,311 (GRCm39)	F721L	probably benign	Het
Arhgef39	T	C	4: 43,497,185 (GRCm39)	S269G	probably benign	Het
Asap2	C	T	12: 21,279,249 (GRCm39)	T377M	probably damaging	Het
Baiap3	G	T	17: 25,466,010 (GRCm39)	A558E	probably benign	Het
Birc6	A	C	17: 75,009,313 (GRCm39)	T4862P	probably benign	Het
Cc2d2a	A	G	5: 43,867,884 (GRCm39)	T843A	probably benign	Het
Ccdc187	A	T	2: 26,171,079 (GRCm39)	D466E	probably benign	Het
Ccdc88a	T	G	11: 29,435,888 (GRCm39)	N1270K	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cntn1	T	G	15: 92,150,278 (GRCm39)	Y371D	probably benign	Het
Cpsf1	T	C	15: 76,481,528 (GRCm39)	D1141G	probably damaging	Het
Crebbp	C	T	16: 3,925,935 (GRCm39)	V1193I	probably benign	Het
Csf2ra	A	T	19: 61,213,597 (GRCm39)	S371T	probably null	Het
Csf2rb2	T	C	15: 78,172,115 (GRCm39)	N432D	probably benign	Het
Cul9	A	T	17: 46,854,177 (GRCm39)	L175Q	probably damaging	Het
Dlc1	T	A	8: 37,405,394 (GRCm39)	R132*	probably null	Het
Dock5	C	A	14: 68,013,749 (GRCm39)	L1324F	probably damaging	Het
Dop1a	T	C	9: 86,403,300 (GRCm39)	V36A	possibly damaging	Het
Fap	A	G	2: 62,378,927 (GRCm39)	V158A	probably benign	Het
G2e3	T	A	12: 51,410,277 (GRCm39)	S319T	possibly damaging	Het
Gatd3a	T	C	10: 78,003,323 (GRCm39)	I110V	possibly damaging	Het
Gphn	T	C	12: 78,656,013 (GRCm39)		probably null	Het
Gucy2g	A	G	19: 55,226,406 (GRCm39)	I170T	probably benign	Het
Hmgxb4	T	A	8: 75,748,466 (GRCm39)	W438R	probably damaging	Het
Igkv14-126	G	T	6: 67,873,329 (GRCm39)	G19V	probably damaging	Het
Kansl1l	C	T	1: 66,812,101 (GRCm39)	C506Y	probably damaging	Het
Kif2a	T	C	13: 107,115,543 (GRCm39)	T321A	probably damaging	Het
Krtap6-5	C	T	16: 88,844,607 (GRCm39)	R42H	unknown	Het
Map4	T	A	9: 109,864,185 (GRCm39)	M470K	probably benign	Het
Mill1	T	C	7: 17,996,982 (GRCm39)	V191A	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mkln1	A	T	6: 31,473,681 (GRCm39)	H669L	probably damaging	Het
Mrgprb3	A	T	7: 48,293,422 (GRCm39)	V43E	possibly damaging	Het
Mucl2	T	A	15: 103,927,860 (GRCm39)		probably null	Het
Mybbp1a	T	A	11: 72,337,076 (GRCm39)	I604N	probably benign	Het
Myo18b	T	C	5: 112,841,164 (GRCm39)	T2210A	probably benign	Het
Nlrp4f	T	C	13: 65,330,749 (GRCm39)	I881M	probably benign	Het
Obscn	C	A	11: 58,943,442 (GRCm39)	A4236S	probably benign	Het
Or13a23-ps1	A	T	7: 140,119,038 (GRCm39)	M203L	unknown	Het
Or4a67	A	C	2: 88,598,630 (GRCm39)	F10V	possibly damaging	Het
Or8d1	A	G	9: 38,767,254 (GRCm39)	K299E	probably damaging	Het
Or8d2b	G	A	9: 38,789,150 (GRCm39)	R226H	probably benign	Het
Phc3	T	A	3: 31,015,926 (GRCm39)	Q83L	possibly damaging	Het
Pira2	T	C	7: 3,845,070 (GRCm39)	Y396C	probably damaging	Het
Prss3	T	A	6: 41,353,872 (GRCm39)	I24F	probably damaging	Het
Psg21	T	C	7: 18,381,293 (GRCm39)	N417D	probably benign	Het
Ros1	G	T	10: 51,999,333 (GRCm39)	R1206S	probably benign	Het
Sncb	T	A	13: 54,907,772 (GRCm39)		probably null	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sorl1	T	A	9: 41,957,848 (GRCm39)	I599F	probably damaging	Het
Sox6	C	A	7: 115,076,218 (GRCm39)	E807*	probably null	Het
Ssu2	G	A	6: 112,360,898 (GRCm39)	A53V	probably benign	Het
Tas2r123	T	C	6: 132,824,333 (GRCm39)	C77R	probably benign	Het
Tcta	T	C	9: 108,181,333 (GRCm39)	R117G	unknown	Het
Tiam1	G	A	16: 89,609,894 (GRCm39)	A1038V	probably damaging	Het
Tram2	A	T	1: 21,074,273 (GRCm39)		probably benign	Het
Tsku	C	A	7: 98,001,704 (GRCm39)	R209L	probably damaging	Het
Twnk	T	C	19: 45,000,149 (GRCm39)	F622L	probably damaging	Het
Ube2t	C	T	1: 134,899,670 (GRCm39)	T106I	probably damaging	Het
Usf1	C	T	1: 171,245,352 (GRCm39)	R255W	probably damaging	Het
Usp28	T	A	9: 48,949,124 (GRCm39)	L906Q	probably null	Het
Vmn2r31	T	A	7: 7,399,654 (GRCm39)	Y101F	probably benign	Het
Vmn2r42	A	G	7: 8,187,331 (GRCm39)	S814P	probably damaging	Het
Wnt2b	T	C	3: 104,858,475 (GRCm39)	R265G	possibly damaging	Het
Zfp62	T	G	11: 49,106,892 (GRCm39)	S328A	possibly damaging	Het
Zfp974	T	C	7: 27,610,589 (GRCm39)	I379V	probably benign	Het
Zmynd15	T	C	11: 70,355,065 (GRCm39)	V484A	possibly damaging	Het
Zzef1	T	C	11: 72,791,499 (GRCm39)	L2201P	probably 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
IGL03204:Smg9	APN	7	24,120,337 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TTGATCACACAGCTGTCCTC -3'
(R):5'- ACGTTGCACTGTAGCATGG -3'

Sequencing Primer
(F):5'- CATCTCTTTCCATCAGGCTAGGG -3'
(R):5'- TTGCACTGTAGCATGGACAGC -3'

Posted On

2021-10-11