Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02899:Maf1'

363531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maf1

Ensembl Gene

ENSMUSG00000022553

Gene Name

MAF1 homolog, negative regulator of RNA polymerase III

Synonyms

Maf1, 1110068E11Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

IGL02899

Quality Score

Status

Chromosome

Chromosomal Location

76235494-76238578 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 76237220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000161527] [ENSMUST00000160172] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000160560] [ENSMUST00000208833] [ENSMUST00000230314]

AlphaFold

Q9D0U6

Predicted Effect

probably benign
Transcript: ENSMUST00000023211

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
Pfam:Sharpin_PH	13	125	1.2e-44	PFAM
low complexity region	187	202	N/A	INTRINSIC
PDB:4DBG\|A	203	299	1e-17	PDB
SCOP:d1euvb_	212	301	2e-5	SMART
Blast:UBQ	218	299	2e-26	BLAST
ZnF_RBZ	343	367	9.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023212

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.8e-69	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147001

Predicted Effect

probably benign
Transcript: ENSMUST00000161527

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.8e-69	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

probably benign
Transcript: ENSMUST00000160172

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.7e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160853

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	25	202	4.6e-67	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160914

SMART Domains

Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
Pfam:Maf1	84	202	4.3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161072

SMART Domains

Protein: ENSMUSP00000125332
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
low complexity region	24	53	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160560

SMART Domains

Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
PDB:4EMO\|D	24	62	2e-13	PDB
low complexity region	64	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

probably benign
Transcript: ENSMUST00000230314

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 protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit slow postnatal weight gain, reduced fertility, decreased food intake, decreased susceptibility to hepatic steatosis and diet-induced obesity, increased energy expenditure, altered lipid homeostasis, high levels of amino acids and spermidine, and an extended life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,710,971 (GRCm39)		probably benign	Het
Btbd7	A	G	12: 102,803,921 (GRCm39)	L373P	probably damaging	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc186	A	T	19: 56,781,920 (GRCm39)	I753N	probably benign	Het
Ccser2	G	A	14: 36,662,716 (GRCm39)	T156I	probably benign	Het
Celsr1	A	G	15: 85,915,927 (GRCm39)	M682T	probably damaging	Het
Cep97	C	A	16: 55,738,903 (GRCm39)	S267I	probably damaging	Het
Dhx35	A	G	2: 158,643,370 (GRCm39)	Y39C	probably damaging	Het
Dscam	A	T	16: 96,510,447 (GRCm39)	D937E	probably damaging	Het
Elmod2	A	G	8: 84,043,562 (GRCm39)	Y202H	probably damaging	Het
Fyco1	T	C	9: 123,659,396 (GRCm39)	N260S	possibly damaging	Het
Gm5591	A	G	7: 38,218,842 (GRCm39)	L677P	probably damaging	Het
Gmppa	A	G	1: 75,418,474 (GRCm39)		probably null	Het
Hltf	C	T	3: 20,153,981 (GRCm39)	T639I	probably damaging	Het
Inhca	C	A	9: 103,154,773 (GRCm39)	V173L	probably damaging	Het
Kpnb1	T	C	11: 97,066,612 (GRCm39)	Y321C	probably damaging	Het
Lgr4	G	A	2: 109,748,598 (GRCm39)	G45R	probably damaging	Het
Ltn1	T	C	16: 87,179,547 (GRCm39)	D1538G	probably benign	Het
Morn5	T	C	2: 35,945,049 (GRCm39)	F91S	probably damaging	Het
Ncan	C	T	8: 70,567,698 (GRCm39)	R138H	possibly damaging	Het
Or10ak7	A	T	4: 118,791,859 (GRCm39)	M62K	probably damaging	Het
Or5ac21	G	T	16: 59,123,649 (GRCm39)	L44F	probably damaging	Het
Parg	T	C	14: 31,960,531 (GRCm39)	L82S	probably damaging	Het
Ppp2r2b	A	T	18: 42,778,874 (GRCm39)	H417Q	probably damaging	Het
Rb1cc1	T	C	1: 6,334,807 (GRCm39)	L98P	probably damaging	Het
Ryr1	C	A	7: 28,748,220 (GRCm39)	V3752L	possibly damaging	Het
Slc25a12	A	G	2: 71,109,979 (GRCm39)	L489P	probably damaging	Het
Slc38a8	C	T	8: 120,212,282 (GRCm39)	V354M	probably benign	Het
Slf2	A	G	19: 44,930,459 (GRCm39)	E512G	probably benign	Het
Tarbp1	A	G	8: 127,180,583 (GRCm39)	M597T	probably damaging	Het
Tgfb3	G	A	12: 86,116,550 (GRCm39)	R163C	probably damaging	Het
Tmco5b	A	G	2: 113,127,265 (GRCm39)	M279V	probably benign	Het
Ttll9	G	A	2: 152,844,871 (GRCm39)	G413D	probably damaging	Het
Tut1	A	G	19: 8,939,751 (GRCm39)	D245G	probably damaging	Het
Usf3	T	A	16: 44,041,589 (GRCm39)	V2023E	probably damaging	Het
Vps33a	C	T	5: 123,669,239 (GRCm39)	G554D	probably damaging	Het
Zfp27	C	A	7: 29,595,680 (GRCm39)	R95M	possibly damaging	Het

Other mutations in Maf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Maf1	APN	15	76,236,892 (GRCm39)	missense	probably damaging	0.99
IGL02396:Maf1	APN	15	76,237,457 (GRCm39)	nonsense	probably null
IGL02695:Maf1	APN	15	76,236,955 (GRCm39)	missense	possibly damaging	0.71
R2004:Maf1	UTSW	15	76,237,563 (GRCm39)	missense	probably damaging	1.00
R2207:Maf1	UTSW	15	76,236,718 (GRCm39)	missense	probably benign	0.01
R4395:Maf1	UTSW	15	76,236,357 (GRCm39)	unclassified	probably benign
R4850:Maf1	UTSW	15	76,237,162 (GRCm39)	missense	possibly damaging	0.92
R5354:Maf1	UTSW	15	76,237,330 (GRCm39)	unclassified	probably benign
R5658:Maf1	UTSW	15	76,237,420 (GRCm39)	missense	possibly damaging	0.65
R6112:Maf1	UTSW	15	76,236,312 (GRCm39)	unclassified	probably benign
R7956:Maf1	UTSW	15	76,236,696 (GRCm39)	missense	probably benign	0.06

Posted On

2015-12-18