Mutagenetix > Incidental Mutation

Incidental Mutation 'R5658:Maf1'

443947

Institutional Source

Beutler Lab

Gene Symbol

Maf1

Ensembl Gene

ENSMUSG00000022553

Gene Name

MAF1 homolog, negative regulator of RNA polymerase III

Synonyms

Maf1, 1110068E11Rik

MMRRC Submission

043172-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R5658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76235494-76238578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76237420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 154 (V154A)

Ref Sequence

ENSEMBL: ENSMUSP00000125387 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000023212
AA Change: V154A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
AA Change: V154A

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

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

probably benign
Transcript: ENSMUST00000160172
AA Change: V154A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
AA Change: V154A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160853
AA Change: V154A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
AA Change: V154A

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: V154A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
AA Change: V154A

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: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

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

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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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
4930522H14Rik	A	G	4: 109,362,644 (GRCm39)	L221P	probably damaging	Het
Art2b	A	G	7: 101,229,569 (GRCm39)	V110A	probably damaging	Het
Bccip	A	G	7: 133,319,349 (GRCm39)	I147V	possibly damaging	Het
Bcl9l	G	T	9: 44,420,466 (GRCm39)	G1254W	probably damaging	Het
Cep68	C	T	11: 20,191,885 (GRCm39)		probably null	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
F5	C	A	1: 164,019,907 (GRCm39)	T794K	probably damaging	Het
Faf2	T	C	13: 54,789,347 (GRCm39)	V55A	probably benign	Het
Gm7535	T	A	17: 18,131,582 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,326,852 (GRCm39)	V1471A	possibly damaging	Het
Kbtbd4	T	A	2: 90,736,423 (GRCm39)	S145T	probably benign	Het
Kcnh3	C	T	15: 99,139,957 (GRCm39)	P948S	possibly damaging	Het
Kcnq1	G	A	7: 142,917,432 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,815,770 (GRCm39)		probably null	Het
Krt9	A	G	11: 100,081,593 (GRCm39)	I312T	probably damaging	Het
Lactb2	T	A	1: 13,697,642 (GRCm39)	H254L	probably benign	Het
Lama5	A	T	2: 179,850,069 (GRCm39)	Y187*	probably null	Het
Ldc1	A	G	4: 130,114,234 (GRCm39)	V61A	probably benign	Het
Mlh1	A	G	9: 111,076,448 (GRCm39)	V303A	probably damaging	Het
Mrgprh	A	T	17: 13,096,646 (GRCm39)	K295N	possibly damaging	Het
Mtrr	G	T	13: 68,717,034 (GRCm39)	A393D	possibly damaging	Het
Myef2l	C	T	3: 10,153,837 (GRCm39)	S202F	probably damaging	Het
Nebl	A	G	2: 17,353,663 (GRCm39)	Y963H	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pmpcb	A	G	5: 21,943,999 (GRCm39)	T78A	probably damaging	Het
Ptprz1	G	A	6: 23,016,188 (GRCm39)	R1677Q	probably damaging	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,790,514 (GRCm39)		probably null	Het
Sh3bp2	T	A	5: 34,714,291 (GRCm39)	I162N	probably damaging	Het
Slc38a10	C	T	11: 119,996,218 (GRCm39)	A960T	probably benign	Het
Sntb1	C	T	15: 55,655,472 (GRCm39)	C248Y	probably damaging	Het
Sowahc	G	A	10: 59,059,049 (GRCm39)	R395H	possibly damaging	Het
Tbc1d5	T	C	17: 51,120,869 (GRCm39)	R416G	probably benign	Het
Tnfaip6	A	T	2: 51,941,047 (GRCm39)	Y196F	possibly damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Try5	T	C	6: 41,289,361 (GRCm39)	R72G	probably damaging	Het
Vwa8	T	C	14: 79,219,838 (GRCm39)		probably null	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
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
R6112:Maf1	UTSW	15	76,236,312 (GRCm39)	unclassified	probably benign
R7956:Maf1	UTSW	15	76,236,696 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGAATTCAGCCGAGAGCCAAG -3'
(R):5'- GGCTTCCATCTTCCCCAAAG -3'

Sequencing Primer
(F):5'- CTCCGCTGGGTAAGGATGAAC -3'
(R):5'- CCAAAGGGGTCGGAGTCTAGATC -3'

Posted On

2016-11-09