Incidental Mutation 'IGL03035:Gm13212'
ID408627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13212
Ensembl Gene ENSMUSG00000078502
Gene Namepredicted gene 13212
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.333) question?
Stock #IGL03035
Quality Score
Status
Chromosome4
Chromosomal Location145585166-145625345 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 145622232 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 80 (Q80K)
Ref Sequence ENSEMBL: ENSMUSP00000101365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097794] [ENSMUST00000105739] [ENSMUST00000119718]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097794
AA Change: Q80K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095402
Gene: ENSMUSG00000078502
AA Change: Q80K

DomainStartEndE-ValueType
KRAB 13 72 3.23e-18 SMART
ZnF_C2H2 238 260 1.69e-3 SMART
ZnF_C2H2 266 288 1.18e-2 SMART
ZnF_C2H2 294 316 1.3e-4 SMART
ZnF_C2H2 322 344 1.58e-3 SMART
ZnF_C2H2 350 372 4.24e-4 SMART
ZnF_C2H2 378 400 1.06e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105739
AA Change: Q80K

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101365
Gene: ENSMUSG00000078502
AA Change: Q80K

DomainStartEndE-ValueType
KRAB 13 72 3.23e-18 SMART
ZnF_C2H2 238 260 1.69e-3 SMART
ZnF_C2H2 266 288 1.18e-2 SMART
ZnF_C2H2 294 316 1.3e-4 SMART
ZnF_C2H2 322 344 1.58e-3 SMART
ZnF_C2H2 350 372 4.24e-4 SMART
ZnF_C2H2 378 400 1.06e-4 SMART
ZnF_C2H2 406 428 1.58e-3 SMART
ZnF_C2H2 434 456 3.39e-3 SMART
ZnF_C2H2 462 484 1.06e-4 SMART
ZnF_C2H2 490 512 1.58e-3 SMART
ZnF_C2H2 518 540 3.39e-3 SMART
ZnF_C2H2 546 568 3.39e-3 SMART
ZnF_C2H2 574 596 3.39e-3 SMART
ZnF_C2H2 602 624 3.39e-3 SMART
ZnF_C2H2 630 652 1.06e-4 SMART
ZnF_C2H2 658 680 1.58e-3 SMART
ZnF_C2H2 686 708 3.39e-3 SMART
ZnF_C2H2 714 736 1.3e-4 SMART
ZnF_C2H2 742 764 1.3e-4 SMART
ZnF_C2H2 770 792 4.79e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119718
AA Change: Q80K

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112918
Gene: ENSMUSG00000078502
AA Change: Q80K

DomainStartEndE-ValueType
KRAB 13 72 3.23e-18 SMART
internal_repeat_1 141 211 2.19e-13 PROSPERO
ZnF_C2H2 238 260 1.69e-3 SMART
ZnF_C2H2 266 288 1.18e-2 SMART
low complexity region 320 335 N/A INTRINSIC
low complexity region 350 357 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180968
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,627,593 L1004P probably damaging Het
Adgrf5 T C 17: 43,430,627 I385T possibly damaging Het
Alpk3 T C 7: 81,078,604 V494A probably benign Het
Camta2 C A 11: 70,671,509 E1021* probably null Het
Ccdc6 T A 10: 70,182,176 S334T probably benign Het
Cd84 T C 1: 171,852,034 V93A probably damaging Het
Ceacam20 T C 7: 19,977,908 probably null Het
Crip2 A C 12: 113,144,125 T103P probably benign Het
Cyp4f14 T A 17: 32,914,634 T83S probably benign Het
Dapk1 T A 13: 60,716,773 V127D probably damaging Het
Dnah7c A G 1: 46,524,117 E609G probably benign Het
Dscam T A 16: 96,819,970 I513F possibly damaging Het
Ell2 T A 13: 75,763,648 L351* probably null Het
Emcn G T 3: 137,372,851 probably null Het
Fdft1 A T 14: 63,163,389 C98* probably null Het
Fer1l4 A G 2: 156,022,606 S1663P possibly damaging Het
Flt4 C A 11: 49,645,897 Y1231* probably null Het
Gatb A G 3: 85,601,947 K139E probably damaging Het
Gtf2a1 C A 12: 91,572,637 probably benign Het
Gtf3c2 A C 5: 31,166,014 V574G possibly damaging Het
Heatr1 T C 13: 12,413,219 probably benign Het
Homer2 T A 7: 81,624,278 T57S possibly damaging Het
Ice2 C A 9: 69,425,688 F825L probably benign Het
Lepr C A 4: 101,764,980 L370I probably damaging Het
Nalcn G A 14: 123,278,218 Q1724* probably null Het
Nufip1 A G 14: 76,115,818 D222G probably damaging Het
Olfr1289 T C 2: 111,483,823 V159A probably benign Het
Prl3b1 A G 13: 27,249,533 probably benign Het
Ptbp3 A T 4: 59,477,218 M393K probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rapgef2 T A 3: 79,094,424 H282L probably damaging Het
Rars2 T C 4: 34,656,865 probably null Het
Rnf213 G A 11: 119,445,626 probably benign Het
Ros1 C A 10: 52,075,984 probably benign Het
Slx4ip A G 2: 137,067,703 D206G possibly damaging Het
Sprr1a T A 3: 92,484,577 D39V probably benign Het
Stab1 A G 14: 31,147,769 V1442A probably benign Het
Tbx3 C A 5: 119,683,096 probably benign Het
Ubl3 A G 5: 148,506,137 *118Q probably null Het
Vmn2r55 G A 7: 12,670,816 S220L probably benign Het
Vps36 A G 8: 22,218,415 K362E probably benign Het
Other mutations in Gm13212
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01797:Gm13212 APN 4 145620671 missense probably damaging 0.98
IGL02678:Gm13212 APN 4 145622497 missense probably damaging 1.00
BB008:Gm13212 UTSW 4 145622556 missense possibly damaging 0.49
BB018:Gm13212 UTSW 4 145622556 missense possibly damaging 0.49
R0090:Gm13212 UTSW 4 145622625 nonsense probably null
R0904:Gm13212 UTSW 4 145622175 missense possibly damaging 0.95
R1617:Gm13212 UTSW 4 145624307 utr 3 prime probably benign
R1851:Gm13212 UTSW 4 145624250 unclassified probably benign
R1864:Gm13212 UTSW 4 145622428 missense possibly damaging 0.92
R2093:Gm13212 UTSW 4 145622569 missense probably benign 0.02
R2132:Gm13212 UTSW 4 145624233 unclassified probably benign
R2240:Gm13212 UTSW 4 145585321 start gained probably benign
R4177:Gm13212 UTSW 4 145620655 missense probably damaging 1.00
R4584:Gm13212 UTSW 4 145617177 critical splice donor site probably null
R4991:Gm13212 UTSW 4 145622334 missense probably benign 0.31
R5164:Gm13212 UTSW 4 145622205 missense probably damaging 1.00
R6175:Gm13212 UTSW 4 145624241 unclassified probably benign
R6176:Gm13212 UTSW 4 145624058 nonsense probably null
R6498:Gm13212 UTSW 4 145622889 missense probably damaging 0.98
R6984:Gm13212 UTSW 4 145620616 missense probably damaging 1.00
R7134:Gm13212 UTSW 4 145622805 missense possibly damaging 0.93
R7931:Gm13212 UTSW 4 145622556 missense possibly damaging 0.49
R8017:Gm13212 UTSW 4 145622568 missense probably benign 0.28
R8282:Gm13212 UTSW 4 145622977 missense possibly damaging 0.94
V5622:Gm13212 UTSW 4 145585321 start gained probably benign
Z1176:Gm13212 UTSW 4 145622968 missense possibly damaging 0.83
Posted On2016-08-02