Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02695:Maf1'

303906

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 #

IGL02695

Quality Score

Status

Chromosome

Chromosomal Location

76235494-76238578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76236955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000125387 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000023212
AA Change: S65P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
AA Change: S65P

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

possibly damaging
Transcript: ENSMUST00000160853
AA Change: S65P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
AA Change: S65P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161527
AA Change: S65P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
AA Change: S65P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160914
AA Change: S65P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553
AA Change: S65P

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 benign
Transcript: ENSMUST00000160172
AA Change: S65P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
AA Change: S65P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

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

noncoding transcript
Transcript: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162871

Predicted Effect

probably benign
Transcript: ENSMUST00000208833

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,287,929 (GRCm39)	M389K	probably benign	Het
Adamts4	C	A	1: 171,080,203 (GRCm39)	T252K	probably damaging	Het
Adgrb2	G	A	4: 129,912,625 (GRCm39)	G1293D	probably damaging	Het
Ankfn1	T	C	11: 89,282,645 (GRCm39)	E1013G	probably damaging	Het
Ankrd34b	C	A	13: 92,576,120 (GRCm39)	H451N	possibly damaging	Het
Cd300c2	C	T	11: 114,892,379 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,919,946 (GRCm39)	Q637P	probably benign	Het
Cpne6	A	T	14: 55,752,037 (GRCm39)	I265F	probably damaging	Het
Dot1l	C	A	10: 80,613,442 (GRCm39)	T18K	probably damaging	Het
Fam83c	T	C	2: 155,673,435 (GRCm39)	D251G	probably benign	Het
Fyb1	A	G	15: 6,610,402 (GRCm39)	K325R	probably damaging	Het
Gas2l2	T	A	11: 83,313,468 (GRCm39)	I615F	probably damaging	Het
Gigyf2	A	G	1: 87,344,549 (GRCm39)	N494S	probably benign	Het
Gnaz	T	C	10: 74,827,974 (GRCm39)		probably null	Het
Haus5	A	T	7: 30,362,702 (GRCm39)	L36Q	probably damaging	Het
Hecw2	C	T	1: 53,965,368 (GRCm39)	G486D	possibly damaging	Het
Hmcn2	T	C	2: 31,298,985 (GRCm39)	F2777S	possibly damaging	Het
Il1rl1	T	C	1: 40,485,718 (GRCm39)	S290P	possibly damaging	Het
Itgam	G	T	7: 127,685,113 (GRCm39)	A409S	possibly damaging	Het
Kdm5b	T	A	1: 134,532,223 (GRCm39)	M467K	possibly damaging	Het
Lama2	A	C	10: 26,876,771 (GRCm39)	V2725G	probably benign	Het
Lhpp	G	A	7: 132,252,063 (GRCm39)	R234Q	probably damaging	Het
Mgat5	T	A	1: 127,339,868 (GRCm39)	H416Q	probably damaging	Het
Mta2	A	G	19: 8,925,728 (GRCm39)	T408A	probably benign	Het
Neb	T	A	2: 52,145,603 (GRCm39)	I2974F	probably damaging	Het
Neb	C	T	2: 52,101,608 (GRCm39)		probably benign	Het
Or1j19	C	T	2: 36,677,332 (GRCm39)	S265L	possibly damaging	Het
Or2d4	A	G	7: 106,543,870 (GRCm39)	S113P	possibly damaging	Het
Or52p1	A	G	7: 104,267,678 (GRCm39)	H264R	probably damaging	Het
Or5w22	C	T	2: 87,362,461 (GRCm39)	T28I	probably benign	Het
Pcca	T	A	14: 122,820,150 (GRCm39)		probably benign	Het
Prlr	T	C	15: 10,328,451 (GRCm39)	F309L	probably benign	Het
Slc28a1	A	T	7: 80,817,739 (GRCm39)	Y536F	probably benign	Het
Slco1a8	A	G	6: 141,933,486 (GRCm39)	V433A	probably damaging	Het
Stab1	T	A	14: 30,881,228 (GRCm39)	N601Y	probably damaging	Het
Stil	G	T	4: 114,873,372 (GRCm39)	V332F	probably damaging	Het
Stk11	A	G	10: 79,961,311 (GRCm39)		probably null	Het
Tmem59	A	G	4: 107,050,511 (GRCm39)	N147S	probably benign	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
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