Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Mafg'

192640

Institutional Source

Beutler Lab

Gene Symbol

Mafg

Ensembl Gene

ENSMUSG00000051510

Gene Name

v-maf musculoaponeurotic fibrosarcoma oncogene family, protein G (avian)

Synonyms

C630022N07Rik

MMRRC Submission

038345-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R0051 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120515943-120524426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120520430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 57 (R57S)

Ref Sequence

ENSEMBL: ENSMUSP00000101788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058162] [ENSMUST00000080202] [ENSMUST00000106180] [ENSMUST00000106181] [ENSMUST00000106182] [ENSMUST00000106183]

AlphaFold

O54790

Predicted Effect

probably damaging
Transcript: ENSMUST00000058162
AA Change: R57S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053899
Gene: ENSMUSG00000051510
AA Change: R57S

Domain	Start	End	E-Value	Type
BRLZ	46	113	4.43e-7	SMART
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080202

SMART Domains

Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138

Domain	Start	End	E-Value	Type
coiled coil region	24	48	N/A	INTRINSIC
low complexity region	65	78	N/A	INTRINSIC
Pfam:SIR2	134	276	1.1e-22	PFAM
low complexity region	393	400	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106180
AA Change: R57S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101786
Gene: ENSMUSG00000051510
AA Change: R57S

Domain	Start	End	E-Value	Type
BRLZ	46	113	4.43e-7	SMART
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106181
AA Change: R57S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101787
Gene: ENSMUSG00000051510
AA Change: R57S

Domain	Start	End	E-Value	Type
BRLZ	46	113	4.43e-7	SMART
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106182
AA Change: R57S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101788
Gene: ENSMUSG00000051510
AA Change: R57S

Domain	Start	End	E-Value	Type
BRLZ	46	113	4.43e-7	SMART
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106183

SMART Domains

Protein: ENSMUSP00000101789
Gene: ENSMUSG00000025138

Domain	Start	End	E-Value	Type
coiled coil region	24	48	N/A	INTRINSIC
low complexity region	65	78	N/A	INTRINSIC
SCOP:d1icia_	92	113	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181502

Meta Mutation Damage Score

0.9383

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit a background sensitive increase in perinatal lethality, hemopoietic abnormalities, and locomotor difficulties. [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
4930432E11Rik	A	G	7: 29,278,526 (GRCm39)		noncoding transcript	Het
Abr	T	A	11: 76,363,328 (GRCm39)	Q163L	probably benign	Het
Ankrd11	C	A	8: 123,616,481 (GRCm39)	C2457F	probably damaging	Het
Anks3	G	C	16: 4,765,613 (GRCm39)	T163S	probably benign	Het
Cacna1d	G	A	14: 29,833,052 (GRCm39)	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,521,902 (GRCm39)	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,613,524 (GRCm39)	A348E	probably damaging	Het
Cfap46	A	G	7: 139,255,951 (GRCm39)	C300R	probably damaging	Het
Cimap1a	C	A	7: 140,430,134 (GRCm39)		probably benign	Het
Coq2	T	C	5: 100,811,551 (GRCm39)	N146S	probably benign	Het
Dalrd3	T	C	9: 108,449,414 (GRCm39)	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,538,441 (GRCm39)		probably benign	Het
Ddx39a	A	G	8: 84,447,251 (GRCm39)	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,274,890 (GRCm39)		probably null	Het
Dmbt1	G	T	7: 130,721,225 (GRCm39)	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,560,245 (GRCm39)		probably benign	Het
Dpp7	A	G	2: 25,246,107 (GRCm39)	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,477,957 (GRCm39)	S317G	probably benign	Het
Ecpas	A	G	4: 58,832,729 (GRCm39)	L877S	probably damaging	Het
Ecsit	C	T	9: 21,987,584 (GRCm39)	V152I	probably benign	Het
Eeig1	G	A	2: 32,448,065 (GRCm39)	R58Q	possibly damaging	Het
Emc1	T	A	4: 139,102,474 (GRCm39)	M923K	possibly damaging	Het
Fcrl6	A	T	1: 172,426,320 (GRCm39)	L159Q	probably benign	Het
Frrs1	T	C	3: 116,678,946 (GRCm39)		probably benign	Het
Hspd1	A	G	1: 55,121,205 (GRCm39)		probably benign	Het
Impg2	T	A	16: 56,078,411 (GRCm39)	S458T	probably damaging	Het
Klf17	T	C	4: 117,617,589 (GRCm39)	Y256C	probably damaging	Het
Lnx2	A	G	5: 146,966,163 (GRCm39)	F319L	probably damaging	Het
Med13l	T	A	5: 118,880,720 (GRCm39)	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,096,962 (GRCm39)	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,763,384 (GRCm39)	E315G	probably damaging	Het
Naip1	T	C	13: 100,547,509 (GRCm39)	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,253,867 (GRCm39)	S320P	probably damaging	Het
Nek11	A	G	9: 105,095,738 (GRCm39)		probably benign	Het
Nlrp2	A	T	7: 5,325,333 (GRCm39)		probably benign	Het
Rbm26	A	C	14: 105,389,976 (GRCm39)	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,692,338 (GRCm39)	D178G	probably damaging	Het
Rtel1	C	T	2: 180,992,449 (GRCm39)	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,990,400 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,699,420 (GRCm39)	D890G	probably damaging	Het
Scarb1	C	A	5: 125,358,164 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,593,156 (GRCm39)		probably benign	Het
Slc12a5	T	A	2: 164,828,583 (GRCm39)	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,453,676 (GRCm39)	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,722,056 (GRCm39)	F440L	probably damaging	Het
Stac3	G	A	10: 127,344,017 (GRCm39)	R305H	probably damaging	Het
Stk32b	A	G	5: 37,616,940 (GRCm39)		probably benign	Het
Syna	A	T	5: 134,588,397 (GRCm39)	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,494,302 (GRCm39)	N401S	probably damaging	Het
Tut4	T	G	4: 108,384,201 (GRCm39)	S1089R	probably damaging	Het
Yeats2	T	A	16: 20,012,474 (GRCm39)	Y557*	probably null	Het
Zfp352	T	C	4: 90,112,522 (GRCm39)	S221P	probably damaging	Het
Zfp575	A	G	7: 24,285,512 (GRCm39)	V43A	probably benign	Het
Zfp775	A	G	6: 48,597,706 (GRCm39)	T527A	probably benign	Het

Other mutations in Mafg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
index	UTSW	11	120,520,415 (GRCm39)	frame shift	probably null
R0051:Mafg	UTSW	11	120,520,430 (GRCm39)	missense	probably damaging	1.00
R1735:Mafg	UTSW	11	120,520,504 (GRCm39)	missense	possibly damaging	0.46
R9106:Mafg	UTSW	11	120,520,415 (GRCm39)	frame shift	probably null
Z1176:Mafg	UTSW	11	120,520,354 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAGACCTGCCTGGCAACTG -3'
(R):5'- AAGCTTCCTGTTGGGGTGTAAAAGAG -3'

Sequencing Primer
(F):5'- ACGGTCCTGGCAAAGTTCTG -3'
(R):5'- AGAGTGCCTGCTCACTGTG -3'

Posted On

2014-05-20