Incidental Mutation 'R7963:Gm14443'
ID613839
Institutional Source Beutler Lab
Gene Symbol Gm14443
Ensembl Gene ENSMUSG00000078902
Gene Namepredicted gene 14443
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #R7963 (G1)
Quality Score165.009
Status Not validated
Chromosome2
Chromosomal Location175166255-175175871 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 175169370 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 428 (I428L)
Ref Sequence ENSEMBL: ENSMUSP00000104682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109054]
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: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,909,962 D703V possibly damaging Het
Adamts1 G A 16: 85,798,052 R340* probably null Het
Akap13 A G 7: 75,586,216 T180A probably damaging Het
Arhgap31 G A 16: 38,602,725 A993V probably benign Het
Asxl3 C T 18: 22,522,151 P1073S possibly damaging Het
Bmp3 T G 5: 98,872,575 S286A probably damaging Het
Cacna2d4 C T 6: 119,349,155 S1078F probably damaging Het
Cd101 A G 3: 101,007,866 L799P probably benign Het
Chst13 C T 6: 90,325,080 R28H possibly damaging Het
CN725425 T A 15: 91,246,105 C390* probably null Het
Crabp1 C A 9: 54,765,658 C82* probably null Het
Cyp2b23 A C 7: 26,673,134 V352G probably damaging Het
Dmrta1 T A 4: 89,688,844 V179E possibly damaging Het
Ect2l T C 10: 18,136,954 D839G possibly damaging Het
Espnl A T 1: 91,344,766 E616V possibly damaging Het
Fam50b C A 13: 34,746,819 Q93K probably benign Het
Focad C T 4: 88,401,170 R1539C unknown Het
Gm7030 T A 17: 36,127,869 H210L possibly damaging Het
Gramd1c C G 16: 43,992,076 A193P probably benign Het
Gsn A G 2: 35,283,927 H54R probably damaging Het
Gucy2g T A 19: 55,206,280 I902F probably damaging Het
Heg1 T C 16: 33,719,509 S280P possibly damaging Het
Herc1 G T 9: 66,508,224 R4827L probably damaging Het
Igsf21 A G 4: 140,157,508 C46R probably damaging Het
Kansl1 G T 11: 104,424,153 A353D probably damaging Het
Kcnab3 A G 11: 69,331,464 Y311C probably damaging Het
Kctd18 A G 1: 57,967,619 I24T possibly damaging Het
Lpcat4 C A 2: 112,240,031 H30N probably benign Het
Lrrc4c A G 2: 97,630,798 I590V probably benign Het
Lrrc69 T C 4: 14,703,946 I291M possibly damaging Het
Mphosph8 T A 14: 56,674,778 probably null Het
Nsun6 A C 2: 14,996,379 C455W probably damaging Het
Olfr1112 T A 2: 87,192,090 C134* probably null Het
Olfr1264 A T 2: 90,022,037 F10I probably damaging Het
Olfr832 T G 9: 18,944,728 L27V probably benign Het
Olfr992 G T 2: 85,400,035 S166Y possibly damaging Het
Orc6 T C 8: 85,305,244 I162T probably benign Het
Pex13 A T 11: 23,649,369 S381T probably benign Het
Ppil1 G A 17: 29,261,788 H54Y probably damaging Het
Prrt4 T C 6: 29,170,156 I766V probably benign Het
Rab32 C T 10: 10,546,415 V187M probably damaging Het
Sema5a T A 15: 32,686,808 I1022N probably damaging Het
Sipa1l2 T C 8: 125,464,393 T953A probably damaging Het
Snapc3 T C 4: 83,435,194 S157P probably damaging Het
Spag9 A G 11: 94,071,834 probably null Het
Spink5 A G 18: 43,986,326 R235G probably benign Het
Stx5a G A 19: 8,742,328 G19D probably damaging Het
Taf4 G A 2: 179,935,933 R532* probably null Het
Tbc1d9b G T 11: 50,168,109 probably null Het
Tmpo T A 10: 91,166,030 K106* probably null Het
Vmn1r228 A T 17: 20,776,410 I282N probably damaging Het
Vps13d A T 4: 145,181,114 probably null Het
Zfp703 A G 8: 26,978,690 I51V unknown Het
Zfp787 A G 7: 6,132,191 F354L probably benign Het
Znrf2 T C 6: 54,817,347 V111A probably benign Het
Zwint G T 10: 72,657,092 R182L probably benign Het
Other mutations in Gm14443
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02248:Gm14443 APN 2 175170314 missense probably benign 0.01
R0081:Gm14443 UTSW 2 175169936 missense probably damaging 1.00
R1312:Gm14443 UTSW 2 175171590 splice site probably benign
R1958:Gm14443 UTSW 2 175169704 missense probably benign 0.31
R4061:Gm14443 UTSW 2 175169609 missense probably benign 0.01
R4089:Gm14443 UTSW 2 175171892 missense probably damaging 1.00
R5306:Gm14443 UTSW 2 175169579 missense possibly damaging 0.63
R5405:Gm14443 UTSW 2 175171851 missense possibly damaging 0.55
R5417:Gm14443 UTSW 2 175170003 missense probably damaging 1.00
R6422:Gm14443 UTSW 2 175170381 nonsense probably null
R7410:Gm14443 UTSW 2 175169276 missense possibly damaging 0.85
R7880:Gm14443 UTSW 2 175169370 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TGTTCGCTCATGTATTTGGAGATTA -3'
(R):5'- CATGAGCGAACACATACAGGAG -3'

Sequencing Primer
(F):5'- GCTTTTTGTAAAGGCTTTACCAC -3'
(R):5'- AGCTTTTATAAGAAGTGGGGACCTCC -3'
Posted On2019-12-27