Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Mafa'

501946

Institutional Source

Beutler Lab

Gene Symbol

Mafa

Ensembl Gene

ENSMUSG00000047591

Gene Name

MAF bZIP transcription factor A

Synonyms

RIPE3b1

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R5846 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75617339-75620077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75619627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 49 (S49P)

Ref Sequence

ENSEMBL: ENSMUSP00000054226 (fasta)

Gene Model

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

AlphaFold

Q8CF90

Predicted Effect

probably benign
Transcript: ENSMUST00000062002
AA Change: S49P

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054226
Gene: ENSMUSG00000047591
AA Change: S49P

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

Meta Mutation Damage Score

0.0871

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Numb	G	T	12: 83,923,521 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
R5193:Mafa	UTSW	15	75,619,666 (GRCm39)	missense	unknown
R5221:Mafa	UTSW	15	75,618,891 (GRCm39)	missense	possibly damaging	0.82
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'- TCCAGTACAGATCCTCCAGC -3'
(R):5'- GGAAACTTTTGCTGCTGCG -3'

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

Posted On

2018-01-19