Incidental Mutation 'R5405:Gm14443'
ID 428659
Institutional Source Beutler Lab
Gene Symbol Gm14443
Ensembl Gene ENSMUSG00000078902
Gene Name predicted gene 14443
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5405 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 175008048-175017664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175013644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 43 (I43V)
Ref Sequence ENSEMBL: ENSMUSP00000104682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109054]
AlphaFold A2ARX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000109054
AA Change: I43V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104682
Gene: ENSMUSG00000078902
AA Change: I43V

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,078,179 (GRCm39) T298S probably benign Het
Atad2b G A 12: 4,990,098 (GRCm39) R141Q possibly damaging Het
B3glct A G 5: 149,632,818 (GRCm39) Q56R probably damaging Het
Cdc42bpa A G 1: 179,894,894 (GRCm39) Y358C probably damaging Het
Cdc42bpa A G 1: 179,966,085 (GRCm39) E1136G possibly damaging Het
Ceacam1 A T 7: 25,163,290 (GRCm39) N314K probably benign Het
Ces1g A T 8: 94,032,496 (GRCm39) I488N probably benign Het
Chd6 C T 2: 160,807,310 (GRCm39) R1968K probably benign Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
Cyp39a1 C T 17: 43,987,831 (GRCm39) A99V probably damaging Het
Dipk1a C T 5: 108,057,827 (GRCm39) V199I probably benign Het
Dnaaf9 A G 2: 130,554,380 (GRCm39) S890P probably damaging Het
Efcab3 A T 11: 104,612,018 (GRCm39) D620V probably benign Het
Elapor1 A T 3: 108,375,102 (GRCm39) C588* probably null Het
Erc1 A T 6: 119,801,905 (GRCm39) S37R probably damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Ins2 C T 7: 142,233,134 (GRCm39) R46H probably damaging Het
Krt77 T C 15: 101,769,523 (GRCm39) I413V probably damaging Het
Lpin3 A G 2: 160,745,849 (GRCm39) D660G probably damaging Het
Mpp3 T C 11: 101,901,047 (GRCm39) Q318R probably benign Het
Mpzl2 T C 9: 44,958,503 (GRCm39) S80P probably damaging Het
Mrpl2 T C 17: 46,960,036 (GRCm39) probably null Het
Mrpl48 T C 7: 100,209,000 (GRCm39) Y108C probably damaging Het
Ndufaf7 C A 17: 79,246,044 (GRCm39) F92L probably damaging Het
Or14c43 T C 7: 86,115,383 (GRCm39) Y255H probably damaging Het
Or6c8 T A 10: 128,915,265 (GRCm39) D189V probably damaging Het
Rec114 T C 9: 58,567,624 (GRCm39) S121G probably benign Het
Rnase10 A T 14: 51,247,317 (GRCm39) I195F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 A G 13: 38,133,087 (GRCm39) E1754G probably damaging Het
Sec31a G T 5: 100,531,657 (GRCm39) C238* probably null Het
Slc12a6 T C 2: 112,169,724 (GRCm39) V337A probably damaging Het
Slc25a37 A G 14: 69,482,344 (GRCm39) V319A possibly damaging Het
Slc26a10 T C 10: 127,010,864 (GRCm39) Y456C probably benign Het
Slc27a3 G A 3: 90,294,382 (GRCm39) T463I probably benign Het
Slc66a3 A G 12: 17,043,315 (GRCm39) probably benign Het
Stard9 T A 2: 120,524,149 (GRCm39) D781E probably benign Het
Tle1 T C 4: 72,057,208 (GRCm39) probably benign Het
Tmem229b-ps T C 10: 53,351,325 (GRCm39) noncoding transcript Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r71 A G 7: 85,268,622 (GRCm39) D275G probably benign Het
Wdr1 T C 5: 38,692,543 (GRCm39) T121A probably benign Het
Zdhhc19 C T 16: 32,325,869 (GRCm39) R240C possibly 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
R5306:Gm14443 UTSW 2 175,011,372 (GRCm39) missense possibly damaging 0.63
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'- CAGCCCCAGAGAAAGTATGTTAC -3'
(R):5'- GGACAGGGTAGTCAGCAAATATTC -3'

Sequencing Primer
(F):5'- CCCCAGAGAAAGTATGTTACATTATC -3'
(R):5'- GAAGTACACCTTTACACTGTTGTCTG -3'
Posted On 2016-09-06