Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02396:Maf1'

294341

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: 0.586) question?

Stock #

IGL02396

Quality Score

Status

Chromosome

Chromosomal Location

76235494-76238578 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 76237457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 166 (Y166*)

Ref Sequence

ENSEMBL: ENSMUSP00000125387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000161527] [ENSMUST00000160172] [ENSMUST00000160853] [ENSMUST00000160560] [ENSMUST00000160914] [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 null
Transcript: ENSMUST00000023212
AA Change: Y166*

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
AA Change: Y166*

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: ENSMUST00000152151

Predicted Effect

probably null
Transcript: ENSMUST00000161527
AA Change: Y166*

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
AA Change: Y166*

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

Predicted Effect

probably null
Transcript: ENSMUST00000160172
AA Change: Y166*

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
AA Change: Y166*

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

Predicted Effect

probably null
Transcript: ENSMUST00000160853
AA Change: Y166*

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
AA Change: Y166*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160097

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

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: 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: ENSMUST00000162871

Predicted Effect

probably benign
Transcript: ENSMUST00000208833

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,882,256 (GRCm39)		probably benign	Het
Bhmt1b	A	G	18: 87,774,780 (GRCm39)	E101G	possibly damaging	Het
Bmp3	C	A	5: 99,020,578 (GRCm39)	Q334K	possibly damaging	Het
Bnc2	G	T	4: 84,194,246 (GRCm39)	S1026R	probably benign	Het
Bsn	C	T	9: 107,993,245 (GRCm39)	G836S	possibly damaging	Het
Cand2	A	G	6: 115,768,149 (GRCm39)		probably benign	Het
Ccdc24	T	C	4: 117,726,826 (GRCm39)	T296A	possibly damaging	Het
Ccdc38	A	G	10: 93,409,994 (GRCm39)	N271S	possibly damaging	Het
Ccdc81	T	G	7: 89,530,857 (GRCm39)	I362L	probably benign	Het
Cdhr3	T	A	12: 33,095,195 (GRCm39)	I625F	possibly damaging	Het
Col12a1	T	A	9: 79,569,865 (GRCm39)	R1568S	probably benign	Het
Cpeb4	T	A	11: 31,875,441 (GRCm39)	S547T	probably benign	Het
Dennd4c	T	A	4: 86,743,237 (GRCm39)	N1075K	probably damaging	Het
Esrra	C	A	19: 6,889,373 (GRCm39)	V339L	probably benign	Het
Ghr	A	T	15: 3,487,480 (GRCm39)	M1K	probably null	Het
Gm4987	T	A	X: 45,544,991 (GRCm39)		noncoding transcript	Het
Golga2	G	T	2: 32,188,656 (GRCm39)		probably benign	Het
Gys1	T	A	7: 45,089,012 (GRCm39)	I137N	probably damaging	Het
Hs3st5	A	T	10: 36,704,699 (GRCm39)	M1L	probably benign	Het
Hsd3b5	T	A	3: 98,529,343 (GRCm39)	T96S	probably benign	Het
Ighv6-3	T	C	12: 114,355,356 (GRCm39)	D111G	probably damaging	Het
Immp1l	T	A	2: 105,767,351 (GRCm39)	I70N	probably damaging	Het
Ints4	G	A	7: 97,187,107 (GRCm39)	V866I	possibly damaging	Het
Large2	G	T	2: 92,196,668 (GRCm39)	Y529*	probably null	Het
Manba	T	A	3: 135,250,525 (GRCm39)	M384K	probably damaging	Het
Mapk4	C	A	18: 74,067,068 (GRCm39)		probably null	Het
Mc5r	T	C	18: 68,472,537 (GRCm39)	S299P	possibly damaging	Het
Mdn1	T	A	4: 32,700,120 (GRCm39)	N1404K	probably damaging	Het
Milr1	C	A	11: 106,656,065 (GRCm39)	Y212*	probably null	Het
Ncor2	A	G	5: 125,114,978 (GRCm39)	S1115P	probably damaging	Het
Or10ag57	A	T	2: 87,218,049 (GRCm39)		probably benign	Het
Or4f61	C	A	2: 111,922,812 (GRCm39)	C78F	probably benign	Het
Osbpl7	T	G	11: 96,946,377 (GRCm39)	L158R	probably damaging	Het
Psmd4	A	T	3: 94,943,221 (GRCm39)	L61Q	probably damaging	Het
Rassf9	A	T	10: 102,381,554 (GRCm39)	N310I	possibly damaging	Het
Rpl21-ps6	A	G	17: 56,222,400 (GRCm39)		noncoding transcript	Het
Slc31a2	T	C	4: 62,215,310 (GRCm39)	I119T	probably damaging	Het
Srgap2	C	A	1: 131,220,413 (GRCm39)	C187F	probably damaging	Het
Tekt5	C	A	16: 10,196,931 (GRCm39)	A307S	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Ttn	A	G	2: 76,775,432 (GRCm39)	V1916A	unknown	Het
Wee1	T	G	7: 109,741,300 (GRCm39)	V641G	probably damaging	Het
Zfand6	G	A	7: 84,267,111 (GRCm39)	P157L	probably 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
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

2015-04-16