Incidental Mutation 'R6641:Gm14418'
ID 525771
Institutional Source Beutler Lab
Gene Symbol Gm14418
Ensembl Gene ENSMUSG00000078867
Gene Name predicted gene 14418
Synonyms
MMRRC Submission 044762-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6641 (G1)
Quality Score 209.009
Status Not validated
Chromosome 2
Chromosomal Location 177078917-177090113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 177079623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 124 (T124K)
Ref Sequence ENSEMBL: ENSMUSP00000116617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108955] [ENSMUST00000128657]
AlphaFold A2ARR6
Predicted Effect probably benign
Transcript: ENSMUST00000108955
SMART Domains Protein: ENSMUSP00000104583
Gene: ENSMUSG00000078867

DomainStartEndE-ValueType
KRAB 4 64 7.89e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128657
AA Change: T124K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000116617
Gene: ENSMUSG00000078867
AA Change: T124K

DomainStartEndE-ValueType
KRAB 4 66 9.86e-14 SMART
ZnF_C2H2 78 97 1.61e2 SMART
ZnF_C2H2 103 125 9.3e-1 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 1.92e-2 SMART
ZnF_C2H2 327 349 5.59e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149689
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik C T 16: 88,555,974 (GRCm39) P63S unknown Het
Aadac T C 3: 59,947,153 (GRCm39) S284P probably damaging Het
Casp12 G A 9: 5,354,612 (GRCm39) C257Y probably benign Het
Chil6 T A 3: 106,296,240 (GRCm39) I361F possibly damaging Het
Cubn A C 2: 13,480,875 (GRCm39) S327A probably damaging Het
Desi2 A T 1: 178,071,943 (GRCm39) E82D possibly damaging Het
Dym T A 18: 75,189,712 (GRCm39) I100N probably damaging Het
Gm28042 T A 2: 119,870,164 (GRCm39) I701N probably damaging Het
Gm3404 C A 5: 146,464,518 (GRCm39) A173D probably damaging Het
Hipk1 A T 3: 103,660,721 (GRCm39) L738Q probably damaging Het
Klk10 G T 7: 43,434,324 (GRCm39) D239Y possibly damaging Het
Kmt2a T C 9: 44,731,132 (GRCm39) probably benign Het
Lepr T A 4: 101,622,502 (GRCm39) D427E probably damaging Het
Lrp5 G A 19: 3,702,287 (GRCm39) R177W probably damaging Het
Mtg2 A G 2: 179,727,301 (GRCm39) T318A probably benign Het
Myh7 A G 14: 55,219,737 (GRCm39) V1044A probably benign Het
Nrsn2 A G 2: 152,211,830 (GRCm39) V67A probably benign Het
Or2b11 T C 11: 59,461,666 (GRCm39) D300G possibly damaging Het
Pcdha8 A G 18: 37,126,850 (GRCm39) E444G probably damaging Het
Pdgfra T C 5: 75,322,762 (GRCm39) probably benign Het
Pik3c2a T C 7: 115,939,460 (GRCm39) probably null Het
Prpf40a T G 2: 53,031,638 (GRCm39) probably benign Het
Reln A C 5: 22,134,132 (GRCm39) Y2599D probably damaging Het
Septin11 T A 5: 93,287,411 (GRCm39) I42N probably damaging Het
Slc22a15 G A 3: 101,783,022 (GRCm39) A216V possibly damaging Het
Slc33a1 T A 3: 63,861,327 (GRCm39) T292S probably benign Het
Slc5a11 A G 7: 122,837,378 (GRCm39) K56R probably benign Het
Slc7a13 G A 4: 19,839,534 (GRCm39) G379E probably damaging Het
Spata31g1 A G 4: 42,971,245 (GRCm39) I193V possibly damaging Het
Specc1l A G 10: 75,082,383 (GRCm39) E593G probably damaging Het
Spef2 A T 15: 9,626,059 (GRCm39) M1169K probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Vipr1 A G 9: 121,498,631 (GRCm39) *460W probably null Het
Zbtb18 T A 1: 177,275,609 (GRCm39) L323Q probably damaging Het
Zfyve1 A G 12: 83,641,270 (GRCm39) S129P probably benign Het
Other mutations in Gm14418
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5588:Gm14418 UTSW 2 177,079,065 (GRCm39) missense probably benign
R6794:Gm14418 UTSW 2 177,079,631 (GRCm39) missense probably damaging 1.00
R8397:Gm14418 UTSW 2 177,079,086 (GRCm39) missense probably damaging 0.99
R8702:Gm14418 UTSW 2 177,079,015 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGTGCAAAGGCTTTACCAC -3'
(R):5'- TGAAAGAAGTTGTTCTGCAGAGC -3'

Sequencing Primer
(F):5'- GTGCAAAGGCTTTACCACATTGG -3'
(R):5'- GAGCAACCCCCTGAGTTTATTCAATG -3'
Posted On 2018-06-22