Incidental Mutation 'IGL02984:Gm14137'
ID 453259
Institutional Source Beutler Lab
Gene Symbol Gm14137
Ensembl Gene ENSMUSG00000055926
Gene Name predicted gene 14137
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02984 (G1)
Quality Score 205
Status Validated
Chromosome 2
Chromosomal Location 119004990-119008049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119005961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 173 (E173D)
Ref Sequence ENSEMBL: ENSMUSP00000068999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000057454] [ENSMUST00000069711]
AlphaFold Q8CE97
Predicted Effect probably benign
Transcript: ENSMUST00000038439
SMART Domains Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278

DomainStartEndE-ValueType
DnaJ 10 68 3.66e-21 SMART
coiled coil region 112 151 N/A INTRINSIC
low complexity region 172 181 N/A INTRINSIC
Pfam:RRM_1 187 243 1.8e-6 PFAM
Pfam:RRM_5 194 246 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057454
SMART Domains Protein: ENSMUSP00000060835
Gene: ENSMUSG00000046814

DomainStartEndE-ValueType
Pfam:GFRP 2 84 2.8e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000069711
AA Change: E173D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141009
Meta Mutation Damage Score 0.1000 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,662 (GRCm39) I473N probably damaging Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
A530064D06Rik T C 17: 48,470,448 (GRCm39) I178V probably benign Het
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Aldh1l2 G A 10: 83,363,199 (GRCm39) P55S probably damaging Het
Bglap3 T C 3: 88,276,098 (GRCm39) T85A possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Csrnp3 A G 2: 65,852,553 (GRCm39) D315G probably benign Het
Dclk3 T C 9: 111,317,643 (GRCm39) Y760H probably damaging Het
Eef1akmt2 A G 7: 132,438,935 (GRCm39) *52R probably null Het
Epc2 A G 2: 49,418,866 (GRCm39) K225E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxi2 C T 7: 135,012,127 (GRCm39) T5M possibly damaging Het
Frmd4b T A 6: 97,273,221 (GRCm39) T670S probably damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Mfsd4b3-ps G A 10: 39,823,184 (GRCm39) probably benign Het
Mlst8 A G 17: 24,695,127 (GRCm39) F252S probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mogs A G 6: 83,094,296 (GRCm39) K371R probably benign Het
Nsun2 T C 13: 69,691,727 (GRCm39) probably benign Het
Otog T A 7: 45,954,932 (GRCm39) C2702S probably damaging Het
Plekhg4 A G 8: 106,107,020 (GRCm39) E905G probably damaging Het
Rtn4rl1 T C 11: 75,156,087 (GRCm39) V173A probably benign Het
Sall3 T C 18: 81,016,665 (GRCm39) E421G probably benign Het
Setd6 G A 8: 96,442,903 (GRCm39) probably null Het
Sh3tc1 T C 5: 35,871,403 (GRCm39) probably null Het
Slc35f5 T A 1: 125,490,250 (GRCm39) Y71N probably benign Het
Snx1 A G 9: 65,996,390 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T C 6: 48,472,089 (GRCm39) V792A probably benign Het
Sufu C A 19: 46,462,038 (GRCm39) D350E probably benign Het
Trav18 C A 14: 54,069,026 (GRCm39) Q23K probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Usp17le T A 7: 104,418,311 (GRCm39) H277L probably benign Het
Wdsub1 A G 2: 59,707,173 (GRCm39) S20P probably damaging Het
Other mutations in Gm14137
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Gm14137 APN 2 119,005,807 (GRCm39) missense probably damaging 0.96
R0729:Gm14137 UTSW 2 119,005,834 (GRCm39) missense probably benign 0.00
R1203:Gm14137 UTSW 2 119,005,605 (GRCm39) missense probably damaging 1.00
R3964:Gm14137 UTSW 2 119,005,497 (GRCm39) missense probably benign 0.27
R3966:Gm14137 UTSW 2 119,005,497 (GRCm39) missense probably benign 0.27
R6298:Gm14137 UTSW 2 119,005,572 (GRCm39) missense possibly damaging 0.59
R8137:Gm14137 UTSW 2 119,005,837 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TTCAGCAATCTCCCTGACAGG -3'
(R):5'- CTCCTGCCAGAAAGTGACTC -3'

Sequencing Primer
(F):5'- TGACAGGGCCGCTTCAC -3'
(R):5'- CCTTCACTTTGGGCGACTTGAAG -3'
Posted On 2017-02-01