Incidental Mutation 'R6554:Gm14322'
ID 521826
Institutional Source Beutler Lab
Gene Symbol Gm14322
Ensembl Gene ENSMUSG00000078864
Gene Name predicted gene 14322
Synonyms
MMRRC Submission 044679-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6554 (G1)
Quality Score 92.0077
Status Not validated
Chromosome 2
Chromosomal Location 177401081-177412265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 177410220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 60 (S60N)
Ref Sequence ENSEMBL: ENSMUSP00000104570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108942] [ENSMUST00000119838]
AlphaFold A2AW66
Predicted Effect possibly damaging
Transcript: ENSMUST00000108942
AA Change: S60N

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104570
Gene: ENSMUSG00000078864
AA Change: S60N

DomainStartEndE-ValueType
KRAB 3 65 9.86e-14 SMART
ZnF_C2H2 77 96 1.61e2 SMART
ZnF_C2H2 102 124 3.72e0 SMART
ZnF_C2H2 130 152 1.96e1 SMART
ZnF_C2H2 158 180 4.61e-5 SMART
ZnF_C2H2 186 208 5.59e-4 SMART
ZnF_C2H2 214 236 1.47e-3 SMART
ZnF_C2H2 242 264 4.61e-5 SMART
ZnF_C2H2 270 292 1.04e-3 SMART
ZnF_C2H2 298 320 9.58e-3 SMART
ZnF_C2H2 326 348 5.59e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119838
AA Change: S61N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000136870
Gene: ENSMUSG00000078864
AA Change: S61N

DomainStartEndE-ValueType
KRAB 4 66 9.86e-14 SMART
ZnF_C2H2 78 97 1.61e2 SMART
ZnF_C2H2 103 125 3.72e0 SMART
ZnF_C2H2 131 153 1.96e1 SMART
ZnF_C2H2 159 181 4.61e-5 SMART
ZnF_C2H2 187 209 5.59e-4 SMART
ZnF_C2H2 215 237 1.47e-3 SMART
ZnF_C2H2 243 265 4.61e-5 SMART
ZnF_C2H2 271 293 1.04e-3 SMART
ZnF_C2H2 299 321 9.58e-3 SMART
ZnF_C2H2 327 349 5.59e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148388
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,618,246 (GRCm39) R180C probably damaging Het
B3galt9 C A 2: 34,729,276 (GRCm39) S358R probably benign Het
Ces1b C A 8: 93,791,619 (GRCm39) V327L probably benign Het
Cps1 C T 1: 67,213,628 (GRCm39) R787* probably null Het
Dmrt2 C T 19: 25,655,312 (GRCm39) P304S probably damaging Het
Dop1b A G 16: 93,557,346 (GRCm39) D429G probably benign Het
Dync1h1 T A 12: 110,616,282 (GRCm39) M3111K probably benign Het
Dync2h1 A G 9: 7,037,699 (GRCm39) V3393A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fam184a T C 10: 53,517,063 (GRCm39) D1007G possibly damaging Het
Flt3 A C 5: 147,312,545 (GRCm39) L132W probably damaging Het
Katnip C T 7: 125,449,914 (GRCm39) R993C probably damaging Het
Kcnj16 T A 11: 110,916,131 (GRCm39) Y264* probably null Het
Klkb1 T A 8: 45,726,591 (GRCm39) I471F probably damaging Het
Lrfn4 T C 19: 4,663,914 (GRCm39) T207A probably damaging Het
Mfsd4b5 T A 10: 39,862,428 (GRCm39) T32S probably benign Het
Mtbp A G 15: 55,430,645 (GRCm39) D234G probably damaging Het
Nfix T C 8: 85,454,279 (GRCm39) T218A possibly damaging Het
Nsd3 A T 8: 26,152,891 (GRCm39) E410D probably damaging Het
Or4g17 C T 2: 111,209,504 (GRCm39) S53F possibly damaging Het
Or5aq7 A T 2: 86,937,970 (GRCm39) S254T probably benign Het
Reln T C 5: 22,101,838 (GRCm39) Y3364C probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpina1d A T 12: 103,731,062 (GRCm39) H305Q probably benign Het
Skic8 A T 9: 54,634,929 (GRCm39) I88N probably damaging Het
Skint8 G A 4: 111,784,413 (GRCm39) C13Y probably benign Het
Smc4 G A 3: 68,936,848 (GRCm39) V863I probably benign Het
Spdl1 T G 11: 34,713,397 (GRCm39) N224T possibly damaging Het
Sprr1b T G 3: 92,344,420 (GRCm39) Q152P possibly damaging Het
St6gal1 A G 16: 23,140,405 (GRCm39) N192S probably benign Het
Tbc1d8 T C 1: 39,445,903 (GRCm39) N96S probably damaging Het
Tbccd1 A T 16: 22,640,874 (GRCm39) I501K probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Unk T C 11: 115,942,285 (GRCm39) I293T probably damaging Het
Vmn2r61 A G 7: 41,926,139 (GRCm39) E548G probably damaging Het
Wdr97 A G 15: 76,239,178 (GRCm39) D85G possibly damaging Het
Zeb2 A T 2: 44,887,524 (GRCm39) V496E probably damaging Het
Other mutations in Gm14322
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5918:Gm14322 UTSW 2 177,411,499 (GRCm39) missense probably benign 0.26
R8053:Gm14322 UTSW 2 177,411,424 (GRCm39) missense probably damaging 0.97
R8725:Gm14322 UTSW 2 177,411,481 (GRCm39) missense probably benign 0.08
R8727:Gm14322 UTSW 2 177,411,481 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AATACTACGTGGGTGGGCAG -3'
(R):5'- ACTCGCCCTTGTACAGCATG -3'

Sequencing Primer
(F):5'- AGTCACCTATGATGACGTGC -3'
(R):5'- ACAGCATGGCTCTACTAGGCTTG -3'
Posted On 2018-06-06