Incidental Mutation 'IGL00429:Mab21l1'
ID6895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mab21l1
Ensembl Gene ENSMUSG00000056947
Gene Namemab-21-like 1 (C. elegans)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00429
Quality Score
Status
Chromosome3
Chromosomal Location55782510-55785001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 55783136 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 48 (Q48P)
Ref Sequence ENSEMBL: ENSMUSP00000074878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029374] [ENSMUST00000075422]
Predicted Effect probably benign
Transcript: ENSMUST00000029374
SMART Domains Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799

DomainStartEndE-ValueType
low complexity region 19 40 N/A INTRINSIC
Pfam:Laminin_G_3 228 393 2.8e-13 PFAM
Pfam:DUF4704 462 733 4e-113 PFAM
low complexity region 792 802 N/A INTRINSIC
low complexity region 964 969 N/A INTRINSIC
low complexity region 1781 1790 N/A INTRINSIC
low complexity region 1791 1807 N/A INTRINSIC
low complexity region 1835 1845 N/A INTRINSIC
Pfam:DUF1088 1956 2122 3.5e-91 PFAM
Pfam:PH_BEACH 2148 2245 2.6e-32 PFAM
Beach 2276 2553 1.3e-205 SMART
WD40 2659 2696 2.12e2 SMART
WD40 2699 2742 2.22e0 SMART
WD40 2759 2798 9.21e0 SMART
WD40 2842 2880 2.88e-1 SMART
WD40 2883 2922 8.91e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000075422
AA Change: Q48P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074878
Gene: ENSMUSG00000056947
AA Change: Q48P

DomainStartEndE-ValueType
Mab-21 61 347 3.59e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199535
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in male infertility and eye developmental anomalies. Mutant eyes are small, absent of lens and iris, and display malformations of the retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Hist1h2bm T C 13: 21,722,140 S15P possibly damaging Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mre11a T C 9: 14,802,813 F237L probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mylip C A 13: 45,408,567 P282T probably benign Het
Mymk T C 2: 27,062,787 Y103C probably damaging Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Pm20d2 A G 4: 33,187,205 probably benign Het
Ppfibp2 A G 7: 107,697,594 T172A probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Mab21l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Mab21l1 APN 3 55783832 missense probably damaging 1.00
IGL02127:Mab21l1 APN 3 55783595 missense probably benign 0.01
IGL02707:Mab21l1 APN 3 55783084 missense possibly damaging 0.80
vermin UTSW 3 55783886 missense possibly damaging 0.95
R1529:Mab21l1 UTSW 3 55783833 nonsense probably null
R1911:Mab21l1 UTSW 3 55783627 missense possibly damaging 0.64
R5578:Mab21l1 UTSW 3 55784014 nonsense probably null
R5973:Mab21l1 UTSW 3 55783112 missense probably benign 0.32
R6008:Mab21l1 UTSW 3 55783097 missense possibly damaging 0.93
R6373:Mab21l1 UTSW 3 55783084 missense possibly damaging 0.80
R7471:Mab21l1 UTSW 3 55783886 missense possibly damaging 0.95
R7779:Mab21l1 UTSW 3 55783375 missense possibly damaging 0.67
R7878:Mab21l1 UTSW 3 55784017 missense probably benign 0.18
R8122:Mab21l1 UTSW 3 55783484 missense probably benign 0.06
R8405:Mab21l1 UTSW 3 55783238 missense probably damaging 1.00
R8430:Mab21l1 UTSW 3 55783409 missense probably damaging 1.00
R8503:Mab21l1 UTSW 3 55783183 nonsense probably null
Posted On2012-04-20