Incidental Mutation 'IGL03036:Maff'
ID 408653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Maff
Ensembl Gene ENSMUSG00000042622
Gene Name v-maf musculoaponeurotic fibrosarcoma oncogene family, protein F (avian)
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03036
Quality Score
Status
Chromosome 15
Chromosomal Location 79230821-79243276 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 79241658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 25 (S25*)
Ref Sequence ENSEMBL: ENSMUSP00000155516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074991] [ENSMUST00000096350] [ENSMUST00000163691] [ENSMUST00000178522] [ENSMUST00000228002] [ENSMUST00000229130] [ENSMUST00000229285]
AlphaFold O54791
Predicted Effect probably benign
Transcript: ENSMUST00000074991
SMART Domains Protein: ENSMUSP00000074518
Gene: ENSMUSG00000009035

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
Pfam:Solute_trans_a 46 319 2.9e-94 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000096350
AA Change: S25*
SMART Domains Protein: ENSMUSP00000094076
Gene: ENSMUSG00000042622
AA Change: S25*

DomainStartEndE-ValueType
BRLZ 49 113 5.09e-7 SMART
low complexity region 118 135 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163691
AA Change: S25*
SMART Domains Protein: ENSMUSP00000131628
Gene: ENSMUSG00000042622
AA Change: S25*

DomainStartEndE-ValueType
BRLZ 49 113 5.09e-7 SMART
low complexity region 118 135 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178522
SMART Domains Protein: ENSMUSP00000136416
Gene: ENSMUSG00000009035

DomainStartEndE-ValueType
low complexity region 6 28 N/A INTRINSIC
Pfam:Solute_trans_a 43 319 1.9e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228002
Predicted Effect probably null
Transcript: ENSMUST00000229130
AA Change: S25*
Predicted Effect probably null
Transcript: ENSMUST00000229285
AA Change: S25*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice are viable and fertile and show no obvious functional deficiencies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,421,534 (GRCm39) Y145* probably null Het
Afdn T G 17: 14,108,350 (GRCm39) I1291S probably benign Het
Arfgap3 T G 15: 83,191,127 (GRCm39) I16L possibly damaging Het
Bbs12 T A 3: 37,373,343 (GRCm39) H45Q possibly damaging Het
Brpf3 T C 17: 29,043,022 (GRCm39) L1021P possibly damaging Het
Cep170 A G 1: 176,596,903 (GRCm39) S485P possibly damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Chst3 A T 10: 60,022,261 (GRCm39) Y195* probably null Het
Clmn T C 12: 104,740,782 (GRCm39) Y125C probably damaging Het
Col13a1 A G 10: 61,729,692 (GRCm39) probably null Het
Cpeb3 A T 19: 37,002,348 (GRCm39) I688N probably damaging Het
Cpn2 A T 16: 30,079,647 (GRCm39) L18H probably benign Het
Crybg3 T A 16: 59,375,542 (GRCm39) H1904L possibly damaging Het
Csde1 C T 3: 102,951,155 (GRCm39) P249S probably damaging Het
Dcaf1 T C 9: 106,721,339 (GRCm39) L377P probably damaging Het
Dmwd A T 7: 18,815,054 (GRCm39) K568M probably damaging Het
Dsg2 T C 18: 20,712,134 (GRCm39) I90T probably damaging Het
Dytn A G 1: 63,680,281 (GRCm39) I426T probably damaging Het
Edc4 G A 8: 106,613,943 (GRCm39) probably null Het
Elac1 G T 18: 73,871,985 (GRCm39) Q337K probably benign Het
Exd2 G T 12: 80,536,185 (GRCm39) A272S probably damaging Het
F13b A G 1: 139,435,853 (GRCm39) I220V possibly damaging Het
Fblim1 G T 4: 141,310,435 (GRCm39) R276S possibly damaging Het
Fn1 A C 1: 71,668,932 (GRCm39) L671R probably damaging Het
Frem1 A T 4: 82,877,576 (GRCm39) F1334I possibly damaging Het
H2-T23 T A 17: 36,343,249 (GRCm39) I43F possibly damaging Het
Hp1bp3 G A 4: 137,956,043 (GRCm39) G202D probably damaging Het
Kdm5b A G 1: 134,536,675 (GRCm39) M632V probably damaging Het
Klra5 T A 6: 129,885,830 (GRCm39) S20C probably damaging Het
Lancl1 A T 1: 67,046,074 (GRCm39) C276S probably damaging Het
Lect2 A G 13: 56,690,520 (GRCm39) *152Q probably null Het
Mtr A G 13: 12,262,263 (GRCm39) L171P probably damaging Het
Ndufs1 A T 1: 63,202,855 (GRCm39) Y236* probably null Het
Neb A C 2: 52,134,165 (GRCm39) Y3273D probably damaging Het
Nup133 A T 8: 124,673,333 (GRCm39) I66K probably benign Het
Or4c110 T C 2: 88,832,459 (GRCm39) M58V possibly damaging Het
Psmd14 A G 2: 61,614,205 (GRCm39) Y200C probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Ptk2b T A 14: 66,411,344 (GRCm39) probably benign Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rabl6 C T 2: 25,474,868 (GRCm39) G614D probably benign Het
Ripk3 T C 14: 56,024,796 (GRCm39) D128G probably benign Het
Serinc4 A T 2: 121,270,039 (GRCm39) probably benign Het
Slco1a8 T G 6: 141,954,333 (GRCm39) I47L possibly damaging Het
Sorbs2 T C 8: 46,235,902 (GRCm39) S322P probably benign Het
Spmap2l A C 5: 77,164,197 (GRCm39) K67Q possibly damaging Het
Srebf1 A T 11: 60,111,284 (GRCm39) I29N possibly damaging Het
Stk38l T C 6: 146,670,372 (GRCm39) L238S probably damaging Het
Supt20 T A 3: 54,616,723 (GRCm39) C298* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Ulk2 A T 11: 61,725,660 (GRCm39) L139M probably damaging Het
Unc13b A G 4: 43,235,249 (GRCm39) N3279S probably damaging Het
Ush2a A G 1: 188,596,818 (GRCm39) R3853G possibly damaging Het
Usp7 C T 16: 8,556,078 (GRCm39) M24I probably benign Het
Vil1 A G 1: 74,458,771 (GRCm39) T131A probably damaging Het
Vmn2r2 C T 3: 64,024,321 (GRCm39) M753I probably benign Het
Vmn2r74 A T 7: 85,601,900 (GRCm39) Y579* probably null Het
Zdhhc3 A T 9: 122,929,582 (GRCm39) Y18N probably damaging Het
Zfp609 C T 9: 65,609,927 (GRCm39) S1012N possibly damaging Het
Zfr2 A T 10: 81,077,985 (GRCm39) M271L probably benign Het
Other mutations in Maff
AlleleSourceChrCoordTypePredicted EffectPPH Score
E0374:Maff UTSW 15 79,241,875 (GRCm39) missense probably damaging 1.00
R4616:Maff UTSW 15 79,241,898 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02