Incidental Mutation 'R4177:Maf'
| ID |
368334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maf
|
| Ensembl Gene |
ENSMUSG00000055435 |
| Gene Name |
MAF bZIP transcription factor |
| Synonyms |
A230108G15Rik, 2810401A20Rik, c-maf |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.774)
|
| Stock # |
R4177 (G1)
|
| Quality Score |
64.1 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
116429992-116433633 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 116433210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 131
(Y131*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069009]
[ENSMUST00000109104]
|
| AlphaFold |
P54843 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069009
AA Change: Y131*
|
| SMART Domains |
Protein: ENSMUSP00000067704
Gene: ENSMUSG00000055435
AA Change: Y131*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
82 |
N/A |
INTRINSIC |
|
Pfam:Maf_N
|
86 |
119 |
6.7e-23 |
PFAM |
|
low complexity region
|
134 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
253 |
N/A |
INTRINSIC |
|
BRLZ
|
281 |
347 |
8.4e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109104
AA Change: Y131*
|
| SMART Domains |
Protein: ENSMUSP00000104732
Gene: ENSMUSG00000055435
AA Change: Y131*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
82 |
N/A |
INTRINSIC |
|
Pfam:Maf_N
|
86 |
120 |
9.3e-24 |
PFAM |
|
low complexity region
|
134 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
253 |
N/A |
INTRINSIC |
|
BRLZ
|
281 |
347 |
8.4e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134649
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| 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 DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes show increased mortality at embryonic day 17.5-18.5, low postnatal survival, abnormal differentiation of lens fiber cells causing microphthalmia, defective lens development and impaired IL4 production by CD4+ T cells and natural killer cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aicda |
A |
T |
6: 122,538,043 (GRCm39) |
D67V |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,158,510 (GRCm39) |
R182G |
probably null |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,120 (GRCm39) |
D16G |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,294 (GRCm39) |
V506A |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,400,816 (GRCm39) |
Q441L |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,937,663 (GRCm39) |
M700K |
possibly damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,394,910 (GRCm39) |
Y142C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,962,394 (GRCm39) |
M602T |
probably benign |
Het |
| Dysf |
C |
T |
6: 84,044,013 (GRCm39) |
R254* |
probably null |
Het |
| Ednra |
A |
C |
8: 78,401,677 (GRCm39) |
I204M |
possibly damaging |
Het |
| Fabp2 |
A |
G |
3: 122,690,547 (GRCm39) |
T77A |
possibly damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Gnb1 |
T |
C |
4: 155,625,113 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
T |
C |
5: 138,275,621 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,732,280 (GRCm39) |
|
probably benign |
Het |
| Lypla2 |
T |
C |
4: 135,696,403 (GRCm39) |
|
probably benign |
Het |
| Mfsd4a |
T |
A |
1: 131,968,295 (GRCm39) |
H335L |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,302 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,734,137 (GRCm39) |
Q342L |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,955,513 (GRCm39) |
|
probably null |
Het |
| Or5t15 |
A |
T |
2: 86,681,745 (GRCm39) |
M99K |
possibly damaging |
Het |
| Pomt1 |
A |
G |
2: 32,138,689 (GRCm39) |
N435S |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,203 (GRCm39) |
I257V |
probably benign |
Het |
| Rab9 |
G |
T |
X: 165,241,296 (GRCm39) |
S5* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,327,083 (GRCm39) |
Y59N |
probably damaging |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,532,616 (GRCm39) |
T462M |
possibly damaging |
Het |
| Selenoo |
C |
T |
15: 88,983,662 (GRCm39) |
|
probably benign |
Het |
| Sptb |
G |
C |
12: 76,659,953 (GRCm39) |
D982E |
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubald1 |
A |
G |
16: 4,693,745 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
T |
C |
10: 71,094,033 (GRCm39) |
K101R |
probably damaging |
Het |
| Unc5cl |
A |
G |
17: 48,769,298 (GRCm39) |
T261A |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,798,395 (GRCm39) |
K197N |
probably damaging |
Het |
| Zfp268 |
T |
C |
4: 145,347,225 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfyve19 |
A |
G |
2: 119,046,693 (GRCm39) |
T296A |
possibly damaging |
Het |
|
| Other mutations in Maf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01992:Maf
|
APN |
8 |
116,432,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Maf
|
UTSW |
8 |
116,432,495 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1529:Maf
|
UTSW |
8 |
116,419,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4435:Maf
|
UTSW |
8 |
116,433,592 (GRCm39) |
missense |
unknown |
|
|
R4941:Maf
|
UTSW |
8 |
116,433,532 (GRCm39) |
missense |
unknown |
|
|
R5855:Maf
|
UTSW |
8 |
116,432,531 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6718:Maf
|
UTSW |
8 |
116,433,539 (GRCm39) |
missense |
unknown |
|
|
R7499:Maf
|
UTSW |
8 |
116,419,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8399:Maf
|
UTSW |
8 |
116,433,251 (GRCm39) |
missense |
unknown |
|
|
R8788:Maf
|
UTSW |
8 |
116,432,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGTCACCAACTGCTCG -3'
(R):5'- CTTCGATCTGATGAAGTTTGAAGTG -3'
Sequencing Primer
(F):5'- TCACCAACTGCTCGTCCGAG -3'
(R):5'- GACCGCATCATCAGCCAGTG -3'
|
| Posted On |
2016-01-28 |
Incidental Mutation