Incidental Mutation 'IGL01997:Mab21l3'
ID182119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mab21l3
Ensembl Gene ENSMUSG00000044313
Gene Namemab-21-like 3 (C. elegans)
SynonymsBC037703
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL01997
Quality Score
Status
Chromosome3
Chromosomal Location101813076-101848959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 101818639 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 347 (T347I)
Ref Sequence ENSEMBL: ENSMUSP00000112730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061831] [ENSMUST00000118411]
Predicted Effect probably damaging
Transcript: ENSMUST00000061831
AA Change: T347I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: T347I

DomainStartEndE-ValueType
Mab-21 124 422 3.17e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118411
AA Change: T347I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: T347I

DomainStartEndE-ValueType
Mab-21 124 422 3.17e-104 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,755,462 T83I probably damaging Het
Aoah A T 13: 20,999,938 M391L probably benign Het
Apc A G 18: 34,315,423 T1757A probably benign Het
B4galt5 A G 2: 167,301,341 Y388H probably benign Het
Cyp3a25 A T 5: 145,994,956 M114K possibly damaging Het
Dcbld1 A G 10: 52,317,110 E246G probably damaging Het
Fstl4 T A 11: 53,163,054 Y404* probably null Het
Gnat3 G T 5: 17,999,723 E125* probably null Het
Hspa5 C T 2: 34,772,315 probably benign Het
Krt72 A G 15: 101,784,880 S200P probably damaging Het
Map2k7 A G 8: 4,243,442 E104G probably benign Het
Map3k9 T C 12: 81,772,697 D261G probably damaging Het
Mepe C T 5: 104,337,600 P202L probably damaging Het
Mill1 G A 7: 18,255,889 G32D probably damaging Het
Mmp20 T G 9: 7,639,260 M143R probably benign Het
Mms19 A T 19: 41,956,531 L302H probably damaging Het
Myh13 T A 11: 67,367,166 I1728K probably benign Het
Nsun2 C T 13: 69,623,246 P290L probably damaging Het
Nwd2 A T 5: 63,804,595 R507S probably damaging Het
Os9 T A 10: 127,119,443 H147L probably benign Het
Piezo1 T C 8: 122,488,331 probably benign Het
Plekhf1 A T 7: 38,221,328 V272D probably damaging Het
Pnisr T C 4: 21,871,537 I419T possibly damaging Het
Ppp1r3d G T 2: 178,413,654 T185K possibly damaging Het
Ppp2r2a C T 14: 67,016,519 S400N probably benign Het
Rpl21 T C 5: 146,835,608 I96T probably benign Het
S1pr3 C T 13: 51,419,715 R311W probably damaging Het
Senp5 T C 16: 31,963,470 K736R probably damaging Het
Slfn9 T C 11: 82,987,677 I209V possibly damaging Het
Traf3ip1 T A 1: 91,507,570 probably null Het
Tyk2 A G 9: 21,110,494 F879L probably damaging Het
Vmn2r53 T C 7: 12,582,446 D482G possibly damaging Het
Vmn2r65 A G 7: 84,940,770 F646S probably damaging Het
Vps13b T A 15: 35,709,224 S1772R probably damaging Het
Vwde C T 6: 13,215,706 C117Y probably damaging Het
Zfyve26 T C 12: 79,244,400 I2144V probably benign Het
Other mutations in Mab21l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Mab21l3 APN 3 101823455 missense probably damaging 0.99
IGL01123:Mab21l3 APN 3 101835130 missense probably benign 0.06
IGL02423:Mab21l3 APN 3 101818729 missense probably damaging 1.00
IGL02546:Mab21l3 APN 3 101823308 missense probably damaging 1.00
R1268:Mab21l3 UTSW 3 101835047 missense possibly damaging 0.88
R1803:Mab21l3 UTSW 3 101835130 missense probably benign 0.06
R2056:Mab21l3 UTSW 3 101815153 missense possibly damaging 0.55
R2104:Mab21l3 UTSW 3 101823428 missense probably benign 0.31
R3107:Mab21l3 UTSW 3 101826796 missense probably damaging 1.00
R3405:Mab21l3 UTSW 3 101823531 missense probably damaging 1.00
R3406:Mab21l3 UTSW 3 101823531 missense probably damaging 1.00
R5715:Mab21l3 UTSW 3 101823407 missense probably benign 0.36
R6612:Mab21l3 UTSW 3 101818645 missense possibly damaging 0.55
R7183:Mab21l3 UTSW 3 101815153 missense probably damaging 1.00
Posted On2014-05-07