Mutagenetix > Incidental Mutation

Incidental Mutation 'R5193:Mafa'

399891

Institutional Source

Beutler Lab

Gene Symbol

Mafa

Ensembl Gene

ENSMUSG00000047591

Gene Name

MAF bZIP transcription factor A

Synonyms

RIPE3b1

MMRRC Submission

042769-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R5193 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

75617339-75620077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75619666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 36 (P36T)

Ref Sequence

ENSEMBL: ENSMUSP00000054226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062002]

AlphaFold

Q8CF90

Predicted Effect

unknown
Transcript: ENSMUST00000062002
AA Change: P36T

SMART Domains

Protein: ENSMUSP00000054226
Gene: ENSMUSG00000047591
AA Change: P36T

Domain	Start	End	E-Value	Type
low complexity region	46	107	N/A	INTRINSIC
Pfam:Maf_N	109	142	4.7e-23	PFAM
low complexity region	144	160	N/A	INTRINSIC
low complexity region	170	226	N/A	INTRINSIC
BRLZ	256	322	1.68e-7	SMART
low complexity region	324	336	N/A	INTRINSIC
low complexity region	343	355	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice exhibit glucose intolerance and develop diabetes mellitus. Glucose-stimulated insulin secretion is severely impaired and mutant mice display pancreatic islet abnormalities as they age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,677,226 (GRCm39)	*56R	probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arfgap3	C	T	15: 83,216,898 (GRCm39)	A156T	probably benign	Het
Bpifc	T	C	10: 85,836,497 (GRCm39)	T3A	probably benign	Het
Ccdc7a	T	A	8: 129,715,278 (GRCm39)	I269L	probably benign	Het
Cd151	A	G	7: 141,050,606 (GRCm39)	Y253C	probably damaging	Het
Cenpl	C	A	1: 160,911,037 (GRCm39)	S328*	probably null	Het
Cfl1	T	A	19: 5,542,580 (GRCm39)	V20D	probably damaging	Het
Clec14a	A	G	12: 58,315,400 (GRCm39)	L74P	probably damaging	Het
Cnn1	A	T	9: 22,019,132 (GRCm39)	D196V	probably damaging	Het
Cst13	C	A	2: 148,670,143 (GRCm39)	C104*	probably null	Het
Det1	A	G	7: 78,493,302 (GRCm39)	V234A	probably damaging	Het
Efnb2	A	G	8: 8,673,162 (GRCm39)	M165T	probably damaging	Het
Fbxo10	T	A	4: 45,051,573 (GRCm39)	K339*	probably null	Het
Fnta	A	T	8: 26,501,246 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,813,338 (GRCm39)	Y3219F	possibly damaging	Het
Gprin2	C	T	14: 33,916,832 (GRCm39)	V313M	possibly damaging	Het
Hars1	A	G	18: 36,900,358 (GRCm39)	L448S	possibly damaging	Het
Hipk3	A	G	2: 104,260,345 (GRCm39)	I1166T	possibly damaging	Het
Il31ra	T	C	13: 112,660,864 (GRCm39)	E602G	probably benign	Het
Kctd15	A	G	7: 34,344,282 (GRCm39)	L123P	probably damaging	Het
Kifbp	T	C	10: 62,395,175 (GRCm39)	D489G	possibly damaging	Het
Krt1	C	A	15: 101,754,357 (GRCm39)	S631I	unknown	Het
Lancl1	T	A	1: 67,060,173 (GRCm39)	Y84F	probably benign	Het
Lcor	A	G	19: 41,570,969 (GRCm39)	D54G	probably damaging	Het
Magi2	G	A	5: 20,563,970 (GRCm39)		probably null	Het
Mcm9	T	A	10: 53,492,134 (GRCm39)	I396F	probably damaging	Het
Mrgprh	T	C	17: 13,095,942 (GRCm39)	F61L	probably damaging	Het
Or10g1b	A	G	14: 52,628,069 (GRCm39)	W54R	probably benign	Het
Or1e16	TAGCGGTCGTA	T	11: 73,286,479 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or51a7	T	A	7: 102,615,143 (GRCm39)	F279I	possibly damaging	Het
Or5w17	A	T	2: 87,583,448 (GRCm39)	D296E	possibly damaging	Het
Pcsk5	T	A	19: 17,542,174 (GRCm39)	T806S	possibly damaging	Het
Pigc	T	C	1: 161,798,465 (GRCm39)	I149T	possibly damaging	Het
Pou5f2	C	A	13: 78,173,083 (GRCm39)	N8K	probably benign	Het
Pou6f2	T	C	13: 18,300,129 (GRCm39)		probably benign	Het
Prl3d2	T	A	13: 27,306,312 (GRCm39)	M13K	possibly damaging	Het
Pzp	T	C	6: 128,479,297 (GRCm39)	N619D	probably benign	Het
Rnps1	G	A	17: 24,637,517 (GRCm39)	S53N	probably benign	Het
Scaf8	C	G	17: 3,240,440 (GRCm39)	A604G	probably benign	Het
Scn10a	T	C	9: 119,438,721 (GRCm39)	N1716S	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc34a1	A	G	13: 24,003,845 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,141,194 (GRCm39)	D6102G	probably damaging	Het
Tbc1d16	A	T	11: 119,049,646 (GRCm39)	D283E	probably benign	Het
Tet1	T	C	10: 62,674,026 (GRCm39)	D1350G	probably benign	Het
Trpa1	A	G	1: 14,946,141 (GRCm39)	Y997H	possibly damaging	Het
Tyro3	T	C	2: 119,640,998 (GRCm39)	L494P	probably damaging	Het
Uba6	G	T	5: 86,272,281 (GRCm39)	Q803K	probably benign	Het
Vgll2	T	A	10: 51,904,088 (GRCm39)	L317Q	possibly damaging	Het
Wdr62	A	T	7: 29,964,592 (GRCm39)	I384N	probably damaging	Het
Wdtc1	G	A	4: 133,021,678 (GRCm39)	R619*	probably null	Het
Xkr6	A	G	14: 64,056,356 (GRCm39)	D89G	possibly damaging	Het

Other mutations in Mafa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2918:Mafa	UTSW	15	75,619,147 (GRCm39)	missense	probably benign	0.10
R4086:Mafa	UTSW	15	75,618,986 (GRCm39)	missense	probably damaging	1.00
R4180:Mafa	UTSW	15	75,619,413 (GRCm39)	missense	possibly damaging	0.75
R4581:Mafa	UTSW	15	75,619,585 (GRCm39)	missense	unknown
R5017:Mafa	UTSW	15	75,619,338 (GRCm39)	missense	probably benign	0.01
R5221:Mafa	UTSW	15	75,618,891 (GRCm39)	missense	possibly damaging	0.82
R5846:Mafa	UTSW	15	75,619,627 (GRCm39)	missense	probably benign	0.23
R6736:Mafa	UTSW	15	75,619,629 (GRCm39)	missense	unknown
R7085:Mafa	UTSW	15	75,619,536 (GRCm39)	missense	unknown
R8790:Mafa	UTSW	15	75,619,224 (GRCm39)	missense	probably benign	0.01
R9132:Mafa	UTSW	15	75,619,048 (GRCm39)	missense	possibly damaging	0.63
R9620:Mafa	UTSW	15	75,619,161 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGCTCATCCAGTACAGATCC -3'
(R):5'- AAACTTTTGCTGCTGCGC -3'

Sequencing Primer
(F):5'- AGCACCGCTTTTCCTGAGG -3'
(R):5'- GACCAGAGCCTGAGCCCAC -3'

Posted On

2016-07-06