Incidental Mutation 'IGL01479:Mab21l1'
ID88549
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 #IGL01479
Quality Score
Status
Chromosome3
Chromosomal Location55782510-55785001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55783832 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 280 (Y280C)
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: Y280C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074878
Gene: ENSMUSG00000056947
AA Change: Y280C

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Mab21l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Mab21l1 APN 3 55783136 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
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
Posted On2013-11-18