Incidental Mutation 'R7880:Gm14443'
ID 608680
Institutional Source Beutler Lab
Gene Symbol Gm14443
Ensembl Gene ENSMUSG00000078902
Gene Name predicted gene 14443
Synonyms
MMRRC Submission 045932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R7880 (G1)
Quality Score 202.009
Status Not validated
Chromosome 2
Chromosomal Location 175008048-175017664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 175011163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 428 (I428L)
Ref Sequence ENSEMBL: ENSMUSP00000104682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109054]
AlphaFold A2ARX0
Predicted Effect probably benign
Transcript: ENSMUST00000109054
AA Change: I428L

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: I428L

DomainStartEndE-ValueType
KRAB 4 66 1.9e-15 SMART
ZnF_C2H2 78 97 1.38e2 SMART
ZnF_C2H2 103 123 3.05e1 SMART
ZnF_C2H2 131 153 1.25e-1 SMART
ZnF_C2H2 159 179 7.89e0 SMART
ZnF_C2H2 187 209 2.27e-4 SMART
ZnF_C2H2 215 237 4.54e-4 SMART
ZnF_C2H2 243 265 5.99e-4 SMART
ZnF_C2H2 271 293 4.54e-4 SMART
ZnF_C2H2 299 321 5.21e-4 SMART
ZnF_C2H2 327 349 3.95e-4 SMART
ZnF_C2H2 355 377 4.24e-4 SMART
ZnF_C2H2 383 405 5.21e-4 SMART
ZnF_C2H2 411 433 5.21e-4 SMART
ZnF_C2H2 439 461 3.95e-4 SMART
ZnF_C2H2 467 489 4.24e-4 SMART
ZnF_C2H2 495 517 5.21e-4 SMART
ZnF_C2H2 523 545 3.95e-4 SMART
ZnF_C2H2 551 573 5.21e-4 SMART
ZnF_C2H2 579 601 2.27e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,511,691 (GRCm39) D703V possibly damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Akap13 A G 7: 75,235,964 (GRCm39) T180A probably damaging Het
Arhgap31 G A 16: 38,423,087 (GRCm39) A993V probably benign Het
Asxl3 C T 18: 22,655,208 (GRCm39) P1073S possibly damaging Het
Bmp3 T G 5: 99,020,434 (GRCm39) S286A probably damaging Het
Cacna2d4 C T 6: 119,326,116 (GRCm39) S1078F probably damaging Het
Cd101 A G 3: 100,915,182 (GRCm39) L799P probably benign Het
Chst13 C T 6: 90,302,062 (GRCm39) R28H possibly damaging Het
CN725425 T A 15: 91,130,308 (GRCm39) C390* probably null Het
Crabp1 C A 9: 54,672,942 (GRCm39) C82* probably null Het
Cyp2b23 A C 7: 26,372,559 (GRCm39) V352G probably damaging Het
Dmrta1 T A 4: 89,577,081 (GRCm39) V179E possibly damaging Het
Ect2l T C 10: 18,012,702 (GRCm39) D839G possibly damaging Het
Espnl A T 1: 91,272,488 (GRCm39) E616V possibly damaging Het
Fam50b C A 13: 34,930,802 (GRCm39) Q93K probably benign Het
Focad C T 4: 88,319,407 (GRCm39) R1539C unknown Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gramd1c C G 16: 43,812,439 (GRCm39) A193P probably benign Het
Gsn A G 2: 35,173,939 (GRCm39) H54R probably damaging Het
Gucy2g T A 19: 55,194,712 (GRCm39) I902F probably damaging Het
H2-T9 T A 17: 36,438,761 (GRCm39) H210L possibly damaging Het
Heg1 T C 16: 33,539,879 (GRCm39) S280P possibly damaging Het
Herc1 G T 9: 66,415,506 (GRCm39) R4827L probably damaging Het
Igsf21 A G 4: 139,884,819 (GRCm39) C46R probably damaging Het
Kansl1 G T 11: 104,314,979 (GRCm39) A353D probably damaging Het
Kcnab3 A G 11: 69,222,290 (GRCm39) Y311C probably damaging Het
Kctd18 A G 1: 58,006,778 (GRCm39) I24T possibly damaging Het
Lpcat4 C A 2: 112,070,376 (GRCm39) H30N probably benign Het
Lrrc4c A G 2: 97,461,143 (GRCm39) I590V probably benign Het
Lrrc69 T C 4: 14,703,946 (GRCm39) I291M possibly damaging Het
Nsun6 A C 2: 15,001,190 (GRCm39) C455W probably damaging Het
Or12e1 T A 2: 87,022,434 (GRCm39) C134* probably null Het
Or4c3 A T 2: 89,852,381 (GRCm39) F10I probably damaging Het
Or5ak22 G T 2: 85,230,379 (GRCm39) S166Y possibly damaging Het
Or7g19 T G 9: 18,856,024 (GRCm39) L27V probably benign Het
Orc6 T C 8: 86,031,873 (GRCm39) I162T probably benign Het
Pex13 A T 11: 23,599,369 (GRCm39) S381T probably benign Het
Ppil1 G A 17: 29,480,762 (GRCm39) H54Y probably damaging Het
Prrt4 T C 6: 29,170,155 (GRCm39) I766V probably benign Het
Rab32 C T 10: 10,422,159 (GRCm39) V187M probably damaging Het
Sema5a T A 15: 32,686,954 (GRCm39) I1022N probably damaging Het
Sipa1l2 T C 8: 126,191,132 (GRCm39) T953A probably damaging Het
Snapc3 T C 4: 83,353,431 (GRCm39) S157P probably damaging Het
Spink5 A G 18: 44,119,393 (GRCm39) R235G probably benign Het
Stx5a G A 19: 8,719,692 (GRCm39) G19D probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Taf4 G A 2: 179,577,726 (GRCm39) R532* probably null Het
Tmpo T A 10: 91,001,892 (GRCm39) K106* probably null Het
Trnt1 T C 6: 106,746,517 (GRCm39) probably null Het
Vmn1r228 A T 17: 20,996,672 (GRCm39) I282N probably damaging Het
Vps13d A T 4: 144,907,684 (GRCm39) probably null Het
Zfp703 A G 8: 27,468,718 (GRCm39) I51V unknown Het
Zfp787 A G 7: 6,135,190 (GRCm39) F354L probably benign Het
Znrf2 T C 6: 54,794,332 (GRCm39) V111A probably benign Het
Zwint G T 10: 72,492,924 (GRCm39) R182L probably benign Het
Other mutations in Gm14443
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Gm14443 APN 2 175,012,107 (GRCm39) missense probably benign 0.01
R0081:Gm14443 UTSW 2 175,011,729 (GRCm39) missense probably damaging 1.00
R1312:Gm14443 UTSW 2 175,013,383 (GRCm39) splice site probably benign
R1958:Gm14443 UTSW 2 175,011,497 (GRCm39) missense probably benign 0.31
R4061:Gm14443 UTSW 2 175,011,402 (GRCm39) missense probably benign 0.01
R4089:Gm14443 UTSW 2 175,013,685 (GRCm39) missense probably damaging 1.00
R5306:Gm14443 UTSW 2 175,011,372 (GRCm39) missense possibly damaging 0.63
R5405:Gm14443 UTSW 2 175,013,644 (GRCm39) missense possibly damaging 0.55
R5417:Gm14443 UTSW 2 175,011,796 (GRCm39) missense probably damaging 1.00
R6422:Gm14443 UTSW 2 175,012,174 (GRCm39) nonsense probably null
R7410:Gm14443 UTSW 2 175,011,069 (GRCm39) missense possibly damaging 0.85
R7962:Gm14443 UTSW 2 175,012,035 (GRCm39) missense probably benign 0.01
R8081:Gm14443 UTSW 2 175,012,238 (GRCm39) nonsense probably null
R8174:Gm14443 UTSW 2 175,011,468 (GRCm39) missense probably damaging 1.00
R8315:Gm14443 UTSW 2 175,013,640 (GRCm39) critical splice donor site probably null
R8725:Gm14443 UTSW 2 175,010,693 (GRCm39) nonsense probably null
R8804:Gm14443 UTSW 2 175,011,652 (GRCm39) missense probably damaging 0.98
R9109:Gm14443 UTSW 2 175,011,869 (GRCm39) nonsense probably null
R9298:Gm14443 UTSW 2 175,011,869 (GRCm39) nonsense probably null
R9332:Gm14443 UTSW 2 175,017,610 (GRCm39) start gained probably benign
R9624:Gm14443 UTSW 2 175,012,129 (GRCm39) missense possibly damaging 0.92
R9766:Gm14443 UTSW 2 175,012,248 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCCTGTATGTGTTCGCTTATGT -3'
(R):5'- TACATACAGGAGAGAAACCCTATGAA -3'

Sequencing Primer
(F):5'- GCTTATGTATTTGGAGGTCCCCAC -3'
(R):5'- AGCTTTTATAAGAAGTGGGGACCTCC -3'
Posted On 2019-12-20