Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01369:Maf1'

76073

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 #

IGL01369

Quality Score

Status

Chromosome

Chromosomal Location

76235494-76238578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76236892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 44 (F44I)

Ref Sequence

ENSEMBL: ENSMUSP00000124242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160853] [ENSMUST00000160172] [ENSMUST00000160914] [ENSMUST00000161527] [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 damaging
Transcript: ENSMUST00000023212
AA Change: F44I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
AA Change: F44I

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 damaging
Transcript: ENSMUST00000160853
AA Change: F44I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
AA Change: F44I

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 damaging
Transcript: ENSMUST00000160172
AA Change: F44I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
AA Change: F44I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160914
AA Change: F44I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553
AA Change: F44I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161527
AA Change: F44I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
AA Change: F44I

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: ENSMUST00000154477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

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: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162871

Predicted Effect

probably benign
Transcript: ENSMUST00000230314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,401,215 (GRCm39)	T90A	possibly damaging	Het
Abi2	A	G	1: 60,476,215 (GRCm39)	T96A	probably damaging	Het
Adam34	T	A	8: 44,104,094 (GRCm39)	K517M	probably benign	Het
Atm	A	T	9: 53,426,617 (GRCm39)	I547N	probably benign	Het
Cadm4	A	T	7: 24,198,947 (GRCm39)	D74V	possibly damaging	Het
Caprin1	G	A	2: 103,599,210 (GRCm39)	P46S	probably damaging	Het
Cbl	A	T	9: 44,112,358 (GRCm39)	Y112*	probably null	Het
Ccdc180	T	C	4: 45,900,256 (GRCm39)	V246A	probably benign	Het
Chd1	A	T	17: 15,975,259 (GRCm39)	E1103V	probably damaging	Het
Clock	G	A	5: 76,384,933 (GRCm39)	P428L	probably benign	Het
Cntn2	T	A	1: 132,443,843 (GRCm39)	I979F	probably benign	Het
Col2a1	A	G	15: 97,875,707 (GRCm39)	S1193P	unknown	Het
Fga	A	T	3: 82,937,507 (GRCm39)	Y128F	probably benign	Het
Glyr1	A	T	16: 4,838,152 (GRCm39)	D365E	probably benign	Het
Gmppb	G	A	9: 107,928,446 (GRCm39)		probably null	Het
Gmps	A	T	3: 63,909,013 (GRCm39)	H505L	probably benign	Het
Hexim2	A	G	11: 103,029,464 (GRCm39)	N172S	probably benign	Het
Hmgcr	T	C	13: 96,803,030 (GRCm39)	E65G	probably null	Het
Hsd17b4	T	C	18: 50,305,100 (GRCm39)	S446P	possibly damaging	Het
Kirrel3	C	T	9: 34,927,737 (GRCm39)	T382I	probably benign	Het
Klra7	A	T	6: 130,203,498 (GRCm39)	Y169*	probably null	Het
Lmbrd1	T	C	1: 24,745,055 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,416,897 (GRCm39)	E211G	possibly damaging	Het
Mmd2	A	G	5: 142,560,984 (GRCm39)	S84P	probably damaging	Het
Morc2b	T	C	17: 33,357,139 (GRCm39)	E211G	probably benign	Het
Mov10l1	T	C	15: 88,909,040 (GRCm39)		probably benign	Het
Mycbp2	C	A	14: 103,392,946 (GRCm39)	C3205F	possibly damaging	Het
Myg1	G	A	15: 102,242,773 (GRCm39)	V155M	probably benign	Het
Ncam2	A	G	16: 81,258,459 (GRCm39)	N247S	probably benign	Het
Nek11	A	G	9: 105,177,259 (GRCm39)		probably null	Het
Nt5dc3	T	A	10: 86,656,139 (GRCm39)		probably benign	Het
Nudcd3	A	G	11: 6,100,551 (GRCm39)	Y134H	probably damaging	Het
Ogfod1	T	C	8: 94,789,719 (GRCm39)		probably null	Het
Or5b99	A	T	19: 12,977,125 (GRCm39)	L258F	possibly damaging	Het
Orm2	T	C	4: 63,281,215 (GRCm39)	V51A	probably benign	Het
P2ry14	T	C	3: 59,022,756 (GRCm39)	I244V	probably damaging	Het
Poll	A	G	19: 45,542,115 (GRCm39)	V397A	probably damaging	Het
Ppdpf	C	A	2: 180,829,687 (GRCm39)		probably benign	Het
Ptch1	T	C	13: 63,659,495 (GRCm39)	E1249G	probably benign	Het
Rdh16f1	C	A	10: 127,595,844 (GRCm39)	T13K	probably benign	Het
Rrp1	G	A	10: 78,240,905 (GRCm39)		probably benign	Het
Sec14l2	A	G	11: 4,053,432 (GRCm39)	M346T	probably benign	Het
Sh2d2a	A	T	3: 87,759,136 (GRCm39)	Q246L	probably benign	Het
Slc44a1	G	A	4: 53,491,448 (GRCm39)	D62N	probably damaging	Het
Snx22	A	G	9: 65,976,060 (GRCm39)	Y58H	probably damaging	Het
Spata31f1a	T	C	4: 42,852,548 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,599,779 (GRCm39)	D19104V	probably damaging	Het
Ugt2a3	T	C	5: 87,474,979 (GRCm39)	S422G	probably damaging	Het
Zfyve19	G	T	2: 119,041,094 (GRCm39)		probably benign	Het

Other mutations in Maf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02396:Maf1	APN	15	76,237,457 (GRCm39)	nonsense	probably null
IGL02695:Maf1	APN	15	76,236,955 (GRCm39)	missense	possibly damaging	0.71
IGL02899:Maf1	APN	15	76,237,220 (GRCm39)	unclassified	probably benign
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

2013-10-07