Incidental Mutation 'R5578:Mab21l1'
ID 437287
Institutional Source Beutler Lab
Gene Symbol Mab21l1
Ensembl Gene ENSMUSG00000056947
Gene Name mab-21-like 1
Synonyms
MMRRC Submission 043133-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5578 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 55689931-55692422 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 55691435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 341 (Q341*)
Ref Sequence ENSEMBL: ENSMUSP00000074878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029374] [ENSMUST00000075422]
AlphaFold O70299
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 null
Transcript: ENSMUST00000075422
AA Change: Q341*
SMART Domains Protein: ENSMUSP00000074878
Gene: ENSMUSG00000056947
AA Change: Q341*

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
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
Acap2 A G 16: 30,926,932 (GRCm39) S521P probably benign Het
Aqp11 A G 7: 97,386,665 (GRCm39) F177S probably damaging Het
Arhgap40 G T 2: 158,373,126 (GRCm39) G128V probably damaging Het
Aspm A T 1: 139,398,455 (GRCm39) K1011I probably damaging Het
Cachd1 A G 4: 100,722,203 (GRCm39) T89A probably benign Het
Cep89 ACTCCTCCTCCTCCTCCTCCTCCTC ACTCCTCCTCCTCCTCCTCCTC 7: 35,109,067 (GRCm39) probably benign Het
Cfhr2 A T 1: 139,758,806 (GRCm39) C81* probably null Het
Chd7 A G 4: 8,847,149 (GRCm39) T1631A probably benign Het
Clca4b T A 3: 144,638,196 (GRCm39) D22V probably benign Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp39a1 T A 17: 43,991,031 (GRCm39) N113K possibly damaging Het
Dnah11 A T 12: 117,982,537 (GRCm39) V2544D probably damaging Het
Dnai3 A T 3: 145,802,983 (GRCm39) Y69* probably null Het
Esr1 A C 10: 4,919,164 (GRCm39) Q418P probably damaging Het
Fam89a T A 8: 125,467,968 (GRCm39) K115* probably null Het
Fstl4 T A 11: 53,056,608 (GRCm39) V455D probably damaging Het
Gm20730 T A 6: 43,058,474 (GRCm39) M113L probably benign Het
H2ac21 T C 3: 96,127,554 (GRCm39) V108A probably damaging Het
Hk3 C T 13: 55,159,994 (GRCm39) V327M probably damaging Het
Itm2c T A 1: 85,830,774 (GRCm39) V57E possibly damaging Het
Lrba T C 3: 86,664,814 (GRCm39) Y565H probably benign Het
Mdm2 C T 10: 117,538,192 (GRCm39) E69K possibly damaging Het
Mdn1 A T 4: 32,728,167 (GRCm39) I2709F probably benign Het
Mpp7 T C 18: 7,355,101 (GRCm39) N442D probably benign Het
Ncoa3 A G 2: 165,896,248 (GRCm39) I384V probably benign Het
Pm20d1 A G 1: 131,743,760 (GRCm39) N475S probably benign Het
Rhpn2 A G 7: 35,070,135 (GRCm39) D131G probably damaging Het
S1pr5 T A 9: 21,155,847 (GRCm39) Y193F probably damaging Het
Sdk1 A T 5: 141,598,880 (GRCm39) K182* probably null Het
Slx4 T A 16: 3,804,726 (GRCm39) E696V probably damaging Het
Smyd4 C T 11: 75,295,602 (GRCm39) P753S probably benign Het
Stambp T G 6: 83,538,782 (GRCm39) D206A probably benign Het
Sult5a1 G T 8: 123,869,860 (GRCm39) Y262* probably null Het
Taar1 A T 10: 23,796,718 (GRCm39) I139F possibly damaging Het
Tchh A T 3: 93,351,618 (GRCm39) R353* probably null Het
Thnsl2 C T 6: 71,115,749 (GRCm39) V153I probably benign Het
Trmt5 C T 12: 73,331,837 (GRCm39) probably null Het
Trpa1 T A 1: 14,957,232 (GRCm39) Y728F probably damaging Het
Usp19 T C 9: 108,370,639 (GRCm39) V126A probably benign Het
Vcan A G 13: 89,839,622 (GRCm39) V1974A probably benign Het
Vmn2r120 T A 17: 57,829,514 (GRCm39) H461L probably benign Het
Zfp445 T C 9: 122,682,402 (GRCm39) Y513C probably benign Het
Zfp84 A C 7: 29,474,856 (GRCm39) M43L possibly damaging Het
Other mutations in Mab21l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Mab21l1 APN 3 55,690,557 (GRCm39) missense probably damaging 1.00
IGL01479:Mab21l1 APN 3 55,691,253 (GRCm39) missense probably damaging 1.00
IGL02127:Mab21l1 APN 3 55,691,016 (GRCm39) missense probably benign 0.01
IGL02707:Mab21l1 APN 3 55,690,505 (GRCm39) missense possibly damaging 0.80
vermin UTSW 3 55,691,307 (GRCm39) missense possibly damaging 0.95
R1529:Mab21l1 UTSW 3 55,691,254 (GRCm39) nonsense probably null
R1911:Mab21l1 UTSW 3 55,691,048 (GRCm39) missense possibly damaging 0.64
R5973:Mab21l1 UTSW 3 55,690,533 (GRCm39) missense probably benign 0.32
R6008:Mab21l1 UTSW 3 55,690,518 (GRCm39) missense possibly damaging 0.93
R6373:Mab21l1 UTSW 3 55,690,505 (GRCm39) missense possibly damaging 0.80
R7471:Mab21l1 UTSW 3 55,691,307 (GRCm39) missense possibly damaging 0.95
R7779:Mab21l1 UTSW 3 55,690,796 (GRCm39) missense possibly damaging 0.67
R7878:Mab21l1 UTSW 3 55,691,438 (GRCm39) missense probably benign 0.18
R8122:Mab21l1 UTSW 3 55,690,905 (GRCm39) missense probably benign 0.06
R8405:Mab21l1 UTSW 3 55,690,659 (GRCm39) missense probably damaging 1.00
R8430:Mab21l1 UTSW 3 55,690,830 (GRCm39) missense probably damaging 1.00
R8503:Mab21l1 UTSW 3 55,690,604 (GRCm39) nonsense probably null
R8963:Mab21l1 UTSW 3 55,690,348 (GRCm39) start gained probably benign
R9420:Mab21l1 UTSW 3 55,690,674 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTGGTGTCCTACGAGTG -3'
(R):5'- TCCCCTGTGTGAGATGATGG -3'

Sequencing Primer
(F):5'- TGTCCTACGAGTGCGAGAAG -3'
(R):5'- AAAGGAAGAGATTGTTTGCACTGTC -3'
Posted On 2016-10-26