Incidental Mutation 'R5306:Gm14443'
ID 404543
Institutional Source Beutler Lab
Gene Symbol Gm14443
Ensembl Gene ENSMUSG00000078902
Gene Name predicted gene 14443
Synonyms
MMRRC Submission 042889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5306 (G1)
Quality Score 151
Status Not validated
Chromosome 2
Chromosomal Location 175008048-175017664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175011372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 358 (N358S)
Ref Sequence ENSEMBL: ENSMUSP00000104682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109054]
AlphaFold A2ARX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000109054
AA Change: N358S

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: N358S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127251
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,324,792 (GRCm39) D554V probably damaging Het
Ankrd44 G A 1: 54,965,362 (GRCm39) probably benign Het
Api5 A T 2: 94,253,811 (GRCm39) C297* probably null Het
Asb14 G A 14: 26,633,866 (GRCm39) C357Y probably damaging Het
Brd10 A G 19: 29,707,230 (GRCm39) probably benign Het
Brdt T A 5: 107,493,010 (GRCm39) D112E probably damaging Het
Capsl C A 15: 9,457,876 (GRCm39) Q32K probably benign Het
Ccdc106 A G 7: 5,061,096 (GRCm39) D81G probably damaging Het
Ccdc121rt3 T C 5: 112,502,910 (GRCm39) R265G probably benign Het
Cep104 C A 4: 154,090,699 (GRCm39) T884K probably benign Het
Cmbl T C 15: 31,582,215 (GRCm39) Y71H probably damaging Het
Crybg3 A T 16: 59,380,356 (GRCm39) probably benign Het
Dynlt1c T C 17: 6,869,210 (GRCm39) M1T probably null Het
Erbb2 T C 11: 98,319,032 (GRCm39) S574P probably benign Het
Exosc10 T C 4: 148,646,849 (GRCm39) V153A probably benign Het
Faxc G T 4: 21,931,557 (GRCm39) probably benign Het
Fcgbp A G 7: 27,791,243 (GRCm39) T835A probably damaging Het
Fmo5 G T 3: 97,549,076 (GRCm39) M241I probably benign Het
Gabra1 A C 11: 42,024,379 (GRCm39) I432S probably benign Het
Gfap A G 11: 102,786,574 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12185 T A 11: 48,806,382 (GRCm39) M270L probably benign Het
Gpr3 C T 4: 132,938,490 (GRCm39) V61M probably damaging Het
Herc2 C T 7: 55,834,709 (GRCm39) T3229M probably damaging Het
Ifit3 A G 19: 34,565,207 (GRCm39) Y251C probably damaging Het
Inf2 G A 12: 112,567,987 (GRCm39) V180I probably benign Het
Ints11 T C 4: 155,959,665 (GRCm39) Y91H probably damaging Het
Ints4 A C 7: 97,158,885 (GRCm39) D419A probably damaging Het
Kmt2e T C 5: 23,704,331 (GRCm39) S1175P probably damaging Het
Mki67 A T 7: 135,315,730 (GRCm39) V44E probably damaging Het
Mrgprb13 A T 7: 47,961,940 (GRCm39) noncoding transcript Het
Myh2 T C 11: 67,077,382 (GRCm39) L839P probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4l1 A G 14: 50,167,007 (GRCm39) probably benign Het
Or6c70 A C 10: 129,709,810 (GRCm39) I272R probably damaging Het
Pced1a T A 2: 130,261,091 (GRCm39) H422L probably benign Het
Plpp1 G T 13: 112,988,089 (GRCm39) probably null Het
Plxna4 T C 6: 32,183,056 (GRCm39) Y949C probably damaging Het
Polg2 G A 11: 106,669,796 (GRCm39) T158I probably damaging Het
Prss38 A T 11: 59,263,821 (GRCm39) I297K probably benign Het
Psph A G 5: 129,846,431 (GRCm39) L98P probably damaging Het
Rab11b G A 17: 33,979,243 (GRCm39) probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Serpine3 G A 14: 62,908,382 (GRCm39) A137T probably damaging Het
Sh3bp4 T C 1: 89,071,997 (GRCm39) F282L probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slco2b1 T A 7: 99,338,198 (GRCm39) Y109F possibly damaging Het
Slfn10-ps T A 11: 82,926,355 (GRCm39) noncoding transcript Het
Smc5 A G 19: 23,237,009 (GRCm39) probably null Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Stxbp5 T C 10: 9,675,735 (GRCm39) E628G probably damaging Het
Tmem236 A T 2: 14,223,975 (GRCm39) K255* probably null Het
Ttc29 T A 8: 78,978,539 (GRCm39) probably null Het
Tyr A G 7: 87,087,222 (GRCm39) I430T probably damaging Het
Uckl1 A G 2: 181,216,160 (GRCm39) probably null Het
Vmn2r52 A C 7: 9,904,672 (GRCm39) I389R possibly damaging Het
Wdr62 A T 7: 29,964,688 (GRCm39) F352Y possibly damaging Het
Wdr70 T C 15: 7,953,754 (GRCm39) D379G probably benign Het
Zfp408 T A 2: 91,476,690 (GRCm39) M155L probably benign Het
Zfp459 T A 13: 67,561,249 (GRCm39) Q66H probably damaging Het
Zfp870 C A 17: 33,102,627 (GRCm39) G234V probably damaging 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
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
R7880:Gm14443 UTSW 2 175,011,163 (GRCm39) missense probably benign 0.08
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'- TCTCCTGTATGTGTTCGCTTATG -3'
(R):5'- ACATACAGGAGAGAAACCCTATGA -3'

Sequencing Primer
(F):5'- TGGAGGTCCCCACTTCTTATAAAAGC -3'
(R):5'- ACCCTATGAATGTAAACAATGTGG -3'
Posted On 2016-07-22