Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02100:Gm28043'

279732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm28043

Ensembl Gene

ENSMUSG00000098374

Gene Name

predicted gene, 28043

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02100

Quality Score

Status

Chromosome

Chromosomal Location

29833850-29922333 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 29910400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024816] [ENSMUST00000130871] [ENSMUST00000137079]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000024816

SMART Domains

Protein: ENSMUSP00000024816
Gene: ENSMUSG00000024019

Domain	Start	End	E-Value	Type
G_patch	84	130	1.93e-10	SMART
Pfam:FtsJ	231	448	9.5e-42	PFAM
SCOP:d1ckma2	625	718	4e-3	SMART
WW	752	785	2.05e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130052

Predicted Effect

probably benign
Transcript: ENSMUST00000130871

SMART Domains

Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374

Domain	Start	End	E-Value	Type
FHA	37	92	5.55e-8	SMART
low complexity region	116	130	N/A	INTRINSIC
low complexity region	299	317	N/A	INTRINSIC
RING	406	443	3.64e-7	SMART
G_patch	524	570	1.93e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137079

SMART Domains

Protein: ENSMUSP00000115603
Gene: ENSMUSG00000024018

Domain	Start	End	E-Value	Type
Pfam:CCDC-167	9	53	1.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172610

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Rnf8 (ring finger protein 8) and Cmtr1 (cap methyltransferase 1) genes on chromosome 17. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,029 (GRCm39)	Q347L	probably null	Het
Acvr2a	T	C	2: 48,788,630 (GRCm39)		probably benign	Het
Ankrd28	T	C	14: 31,449,582 (GRCm39)		probably benign	Het
Atp6v1b1	A	G	6: 83,735,426 (GRCm39)	Y498C	probably damaging	Het
Cdh3	G	A	8: 107,270,322 (GRCm39)	V400I	probably benign	Het
Chrnb1	G	T	11: 69,684,281 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,524,177 (GRCm39)		probably benign	Het
Cyp2j7	A	G	4: 96,124,793 (GRCm39)	L35P	probably damaging	Het
Dennd2c	G	A	3: 103,060,991 (GRCm39)	S561N	probably damaging	Het
Dennd4a	A	T	9: 64,816,988 (GRCm39)		probably benign	Het
Dnai4	A	G	4: 102,907,346 (GRCm39)	C647R	probably damaging	Het
Dynll1	A	C	5: 115,436,852 (GRCm39)	V58G	probably damaging	Het
Eif3a	A	T	19: 60,755,442 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,239,052 (GRCm39)	S47P	probably benign	Het
Fam76b	A	G	9: 13,755,416 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,269,941 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,606,373 (GRCm39)	F140L	probably benign	Het
Gm5117	T	A	8: 32,227,412 (GRCm39)		noncoding transcript	Het
Gstm6	G	T	3: 107,849,653 (GRCm39)	N85K	probably benign	Het
Hip1r	C	T	5: 124,137,006 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,839,706 (GRCm39)	I671T	probably benign	Het
Insrr	T	G	3: 87,718,927 (GRCm39)	F961C	probably damaging	Het
Kbtbd8	T	C	6: 95,099,663 (GRCm39)	Y314H	probably damaging	Het
Kif26b	C	A	1: 178,743,512 (GRCm39)	L756I	probably damaging	Het
Lcor	G	A	19: 41,547,193 (GRCm39)	R259Q	possibly damaging	Het
Mad1l1	T	A	5: 140,129,689 (GRCm39)	S449C	probably damaging	Het
Map1a	T	G	2: 121,133,327 (GRCm39)	L1381R	probably damaging	Het
Mdn1	G	T	4: 32,715,708 (GRCm39)	V1992L	possibly damaging	Het
Pigp	G	A	16: 94,165,626 (GRCm39)	Q99*	probably null	Het
Pip4p2	T	C	4: 14,893,536 (GRCm39)	I133T	probably benign	Het
Rgs8	A	T	1: 153,568,469 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,614,012 (GRCm39)	L36H	probably damaging	Het
Rpap1	T	C	2: 119,599,807 (GRCm39)	S1004G	probably benign	Het
Rpl10a-ps2	T	C	13: 8,990,779 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Scn7a	T	G	2: 66,505,843 (GRCm39)	*1682S	probably null	Het
Sema3d	A	G	5: 12,634,958 (GRCm39)	T675A	probably benign	Het
Slc1a2	T	C	2: 102,586,434 (GRCm39)	F346S	probably damaging	Het
St14	G	T	9: 31,011,426 (GRCm39)		probably benign	Het
Stard5	T	C	7: 83,289,653 (GRCm39)	V173A	possibly damaging	Het
Taf1b	A	G	12: 24,594,394 (GRCm39)	Y309C	possibly damaging	Het
Tet1	T	C	10: 62,648,507 (GRCm39)	N1975S	possibly damaging	Het
Them5	T	A	3: 94,251,782 (GRCm39)	I131N	probably damaging	Het
Tnc	A	C	4: 63,918,398 (GRCm39)	V1171G	possibly damaging	Het
Ttc12	C	A	9: 49,351,482 (GRCm39)	G672W	probably damaging	Het
Usp8	T	C	2: 126,579,774 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,624,807 (GRCm39)	N92S	probably benign	Het
Was	A	T	X: 7,956,554 (GRCm39)	F38L	possibly damaging	Het

Other mutations in Gm28043

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01623:Gm28043	APN	17	29,895,222 (GRCm39)	missense	probably benign	0.04
IGL03118:Gm28043	APN	17	29,853,705 (GRCm39)	missense	probably damaging	1.00
IGL03231:Gm28043	APN	17	29,854,916 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16