Incidental Mutation 'IGL02143:Mab21l2'
ID281663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mab21l2
Ensembl Gene ENSMUSG00000057777
Gene Namemab-21-like 2 (C. elegans)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.801) question?
Stock #IGL02143
Quality Score
Status
Chromosome3
Chromosomal Location86545581-86548629 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86547255 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 146 (R146Q)
Ref Sequence ENSEMBL: ENSMUSP00000076729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077524] [ENSMUST00000107635] [ENSMUST00000192145] [ENSMUST00000194759] [ENSMUST00000195524] [ENSMUST00000212390]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077524
AA Change: R146Q

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076729
Gene: ENSMUSG00000057777
AA Change: R146Q

DomainStartEndE-ValueType
Mab-21 61 347 1.61e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107635
SMART Domains Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 211 377 4.6e-13 PFAM
Pfam:DUF4704 446 717 2.5e-109 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2049 7e-88 PFAM
Pfam:PH_BEACH 2075 2172 9.1e-31 PFAM
Beach 2203 2480 2.87e-207 SMART
WD40 2578 2615 7.4e0 SMART
WD40 2618 2661 1.72e0 SMART
WD40 2677 2716 3.99e-1 SMART
WD40 2760 2798 1.79e-1 SMART
WD40 2801 2840 4.28e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191695
Predicted Effect probably benign
Transcript: ENSMUST00000192145
SMART Domains Protein: ENSMUSP00000142179
Gene: ENSMUSG00000028080

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 205 377 7.4e-18 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2050 1.5e-92 PFAM
Pfam:PH_BEACH 2068 2172 7.5e-32 PFAM
Beach 2203 2480 2.87e-207 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194674
Predicted Effect probably benign
Transcript: ENSMUST00000194759
SMART Domains Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
Pfam:Laminin_G_3 205 377 8.1e-18 PFAM
coiled coil region 1019 1037 N/A INTRINSIC
low complexity region 1073 1089 N/A INTRINSIC
low complexity region 1100 1113 N/A INTRINSIC
low complexity region 1585 1600 N/A INTRINSIC
low complexity region 1614 1630 N/A INTRINSIC
low complexity region 1698 1713 N/A INTRINSIC
low complexity region 1738 1757 N/A INTRINSIC
low complexity region 1848 1861 N/A INTRINSIC
Pfam:DUF1088 1882 2050 1.6e-92 PFAM
Pfam:PH_BEACH 2068 2172 8.3e-32 PFAM
Beach 2203 2480 2.87e-207 SMART
WD40 2578 2615 7.4e0 SMART
WD40 2618 2661 1.72e0 SMART
WD40 2677 2716 3.99e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195398
Predicted Effect probably benign
Transcript: ENSMUST00000195524
SMART Domains Protein: ENSMUSP00000141734
Gene: ENSMUSG00000028080

DomainStartEndE-ValueType
Pfam:PH_BEACH 3 76 3.6e-20 PFAM
Beach 107 384 2.87e-207 SMART
WD40 482 519 7.4e0 SMART
WD40 522 565 1.72e0 SMART
WD40 581 620 3.99e-1 SMART
WD40 664 702 1.79e-1 SMART
WD40 705 744 4.28e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212390
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 C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in omphalocele and defects in ventral body wall formation resulting in death at mid-gestation. Mutants have impaired development of the retina and lens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik C A 19: 58,789,252 R34L possibly damaging Het
Abhd5 T C 9: 122,365,213 M1T probably null Het
Ager G A 17: 34,599,118 G183E probably damaging Het
Alcam C A 16: 52,305,619 V112L probably damaging Het
Amot T A X: 145,487,028 Q204H probably damaging Het
Ankar C T 1: 72,658,649 probably null Het
Armc9 A G 1: 86,176,865 M279V possibly damaging Het
Bpifb1 C T 2: 154,209,929 T218I probably benign Het
Cacna1f A C X: 7,613,995 probably benign Het
Cacna2d2 T C 9: 107,518,275 probably null Het
Ccdc57 A T 11: 120,861,243 C837* probably null Het
Ctbp2 G A 7: 132,991,156 A808V probably damaging Het
Dcbld2 T C 16: 58,448,526 probably null Het
Dis3 T C 14: 99,091,318 probably benign Het
Disp2 T C 2: 118,789,969 F394S probably damaging Het
Dnah1 T C 14: 31,283,289 N2336S probably damaging Het
Drap1 C A 19: 5,423,843 L66F probably damaging Het
Eif5a2 C T 3: 28,793,739 R109C probably benign Het
Enpp1 A T 10: 24,677,974 D105E probably damaging Het
Evi5l G A 8: 4,191,293 M275I probably damaging Het
Flt1 T C 5: 147,578,436 T1059A probably benign Het
Fndc3c1 T C X: 106,472,734 probably benign Het
Git1 T C 11: 77,505,987 V645A possibly damaging Het
Gm7735 T A 16: 89,169,549 C20* probably null Het
Ighv1-42 G T 12: 114,937,286 P60T probably benign Het
Jakmip2 A T 18: 43,563,285 L533Q probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lpin2 T C 17: 71,243,926 S694P probably damaging Het
Mmp1b A T 9: 7,386,400 S174T probably benign Het
Neb T C 2: 52,291,199 Y1132C probably damaging Het
Nhsl1 A T 10: 18,511,635 H219L possibly damaging Het
Nwd2 T A 5: 63,791,653 probably null Het
Obp1a A C X: 78,090,843 M18R possibly damaging Het
Olfr525 A T 7: 140,323,592 K298* probably null Het
Olfr695 T C 7: 106,873,973 T91A probably benign Het
Pabpc5 T A X: 119,927,991 M1K probably null Het
Paxip1 A G 5: 27,775,598 probably benign Het
Perm1 A G 4: 156,218,043 E348G probably benign Het
Pfkfb1 T C X: 150,622,142 F170L probably damaging Het
Pou3f3 A G 1: 42,698,526 M461V probably benign Het
Ppfia2 G A 10: 106,857,499 D622N probably damaging Het
Prtg T G 9: 72,892,324 S801R probably damaging Het
Rars2 T A 4: 34,623,404 probably benign Het
Rasal1 A G 5: 120,652,852 D35G probably damaging Het
Repin1 T A 6: 48,597,121 L272Q probably damaging Het
Stk36 T C 1: 74,616,569 probably benign Het
Tbxa2r A G 10: 81,334,486 T269A probably benign Het
Tmem132c G A 5: 127,563,402 R879Q probably benign Het
Vmn1r78 C A 7: 12,152,480 A6E probably benign Het
Vps45 A T 3: 96,033,821 N369K probably benign Het
Vps45 T C 3: 96,019,646 I530V probably benign Het
Zkscan16 G A 4: 58,956,911 G398R probably damaging Het
Other mutations in Mab21l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Mab21l2 APN 3 86546817 missense possibly damaging 0.67
IGL02570:Mab21l2 APN 3 86547224 missense possibly damaging 0.79
R0401:Mab21l2 UTSW 3 86546989 missense probably benign 0.00
R1744:Mab21l2 UTSW 3 86546904 missense possibly damaging 0.58
R2088:Mab21l2 UTSW 3 86547009 missense probably damaging 1.00
R2504:Mab21l2 UTSW 3 86547555 missense probably damaging 1.00
R3825:Mab21l2 UTSW 3 86546904 missense possibly damaging 0.58
R4361:Mab21l2 UTSW 3 86547190 missense probably damaging 1.00
R4664:Mab21l2 UTSW 3 86547504 missense probably benign
R5245:Mab21l2 UTSW 3 86547492 missense possibly damaging 0.52
R5791:Mab21l2 UTSW 3 86546737 missense probably damaging 1.00
R5878:Mab21l2 UTSW 3 86546718 missense probably damaging 1.00
R6187:Mab21l2 UTSW 3 86547258 missense probably damaging 1.00
R6880:Mab21l2 UTSW 3 86547156 missense possibly damaging 0.71
Posted On2015-04-16