Incidental Mutation 'IGL00897:Mab21l3'
ID 27062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mab21l3
Ensembl Gene ENSMUSG00000044313
Gene Name mab-21-like 3
Synonyms BC037703
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL00897
Quality Score
Status
Chromosome 3
Chromosomal Location 101720392-101743601 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101730771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 156 (R156L)
Ref Sequence ENSEMBL: ENSMUSP00000112730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061831] [ENSMUST00000118411]
AlphaFold Q8CI17
Predicted Effect probably damaging
Transcript: ENSMUST00000061831
AA Change: R156L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: R156L

DomainStartEndE-ValueType
Mab-21 124 422 3.17e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118411
AA Change: R156L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: R156L

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,815,348 (GRCm39) probably benign Het
Arsi A G 18: 61,045,502 (GRCm39) Y64C probably damaging Het
Ascc3 A T 10: 50,604,187 (GRCm39) E1302D probably benign Het
Aspm T C 1: 139,405,145 (GRCm39) I1344T probably damaging Het
Atp2b1 T C 10: 98,850,882 (GRCm39) I924T possibly damaging Het
Ccnb1 A G 13: 100,922,419 (GRCm39) probably benign Het
Cps1 A G 1: 67,254,723 (GRCm39) D1304G probably benign Het
Ctsq C A 13: 61,185,539 (GRCm39) V201F probably damaging Het
Efcab3 G A 11: 104,990,847 (GRCm39) D293N probably damaging Het
Epb41 T A 4: 131,727,508 (GRCm39) probably null Het
Fat2 T C 11: 55,180,078 (GRCm39) E1421G probably damaging Het
Flt1 T A 5: 147,526,664 (GRCm39) Y873F probably benign Het
Fos C T 12: 85,523,120 (GRCm39) T344I probably damaging Het
Gsdme A G 6: 50,206,264 (GRCm39) probably null Het
Inpp5d A G 1: 87,639,836 (GRCm39) T846A probably benign Het
Insyn2b T C 11: 34,353,011 (GRCm39) V351A probably benign Het
Kdm4c T C 4: 74,291,921 (GRCm39) M846T probably damaging Het
Lrp2 A G 2: 69,352,225 (GRCm39) F604L possibly damaging Het
Mrps9 A G 1: 42,944,619 (GRCm39) E379G probably damaging Het
Myo16 T C 8: 10,365,518 (GRCm39) L119P probably damaging Het
Neurod2 C T 11: 98,218,595 (GRCm39) V190M probably damaging Het
Nprl2 T G 9: 107,422,727 (GRCm39) N371K probably benign Het
Nr1d2 A T 14: 18,214,993 (GRCm38) C340S probably benign Het
Nsg1 A T 5: 38,302,060 (GRCm39) V117D probably damaging Het
Or6c219 A T 10: 129,781,780 (GRCm39) D50E possibly damaging Het
Or7e168 T G 9: 19,719,917 (GRCm39) V101G probably damaging Het
Paqr4 T C 17: 23,956,544 (GRCm39) D273G possibly damaging Het
Plcb4 A G 2: 135,813,718 (GRCm39) T686A probably benign Het
Ppp1r8 G A 4: 132,555,213 (GRCm39) A335V probably damaging Het
Slc4a2 T A 5: 24,634,557 (GRCm39) Y65* probably null Het
Slco3a1 A T 7: 74,153,931 (GRCm39) Y214N probably damaging Het
Tmem232 T C 17: 65,563,569 (GRCm39) E608G possibly damaging Het
Vmn1r169 A T 7: 23,277,019 (GRCm39) Y137F probably damaging Het
Vmn2r97 T C 17: 19,167,921 (GRCm39) I725T probably benign Het
Vmn2r98 T A 17: 19,286,007 (GRCm39) probably benign Het
Other mutations in Mab21l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Mab21l3 APN 3 101,742,446 (GRCm39) missense probably benign 0.06
IGL01997:Mab21l3 APN 3 101,725,955 (GRCm39) missense probably damaging 0.99
IGL02423:Mab21l3 APN 3 101,726,045 (GRCm39) missense probably damaging 1.00
IGL02546:Mab21l3 APN 3 101,730,624 (GRCm39) missense probably damaging 1.00
R1268:Mab21l3 UTSW 3 101,742,363 (GRCm39) missense possibly damaging 0.88
R1803:Mab21l3 UTSW 3 101,742,446 (GRCm39) missense probably benign 0.06
R2056:Mab21l3 UTSW 3 101,722,469 (GRCm39) missense possibly damaging 0.55
R2104:Mab21l3 UTSW 3 101,730,744 (GRCm39) missense probably benign 0.31
R3107:Mab21l3 UTSW 3 101,734,112 (GRCm39) missense probably damaging 1.00
R3405:Mab21l3 UTSW 3 101,730,847 (GRCm39) missense probably damaging 1.00
R3406:Mab21l3 UTSW 3 101,730,847 (GRCm39) missense probably damaging 1.00
R5715:Mab21l3 UTSW 3 101,730,723 (GRCm39) missense probably benign 0.36
R6612:Mab21l3 UTSW 3 101,725,961 (GRCm39) missense possibly damaging 0.55
R7183:Mab21l3 UTSW 3 101,722,469 (GRCm39) missense probably damaging 1.00
R8933:Mab21l3 UTSW 3 101,730,774 (GRCm39) missense probably benign
R9187:Mab21l3 UTSW 3 101,730,594 (GRCm39) missense probably benign 0.00
R9342:Mab21l3 UTSW 3 101,742,519 (GRCm39) missense possibly damaging 0.92
R9478:Mab21l3 UTSW 3 101,725,987 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17