Incidental Mutation 'R7690:Gdf15'
ID 593340
Institutional Source Beutler Lab
Gene Symbol Gdf15
Ensembl Gene ENSMUSG00000038508
Gene Name growth differentiation factor 15
Synonyms MIC-1, macrophage inhibiting cytokine-1, NAG-1
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71082043-71085106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71083997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 89 (I89T)
Ref Sequence ENSEMBL: ENSMUSP00000003808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003808] [ENSMUST00000110103]
AlphaFold Q9Z0J7
Predicted Effect possibly damaging
Transcript: ENSMUST00000003808
AA Change: I89T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003808
Gene: ENSMUSG00000038508
AA Change: I89T

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
low complexity region 143 166 N/A INTRINSIC
low complexity region 177 195 N/A INTRINSIC
TGFB 206 303 2.81e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110103
AA Change: I89T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105730
Gene: ENSMUSG00000038508
AA Change: I89T

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
low complexity region 143 166 N/A INTRINSIC
low complexity region 177 195 N/A INTRINSIC
TGFB 206 303 2.81e-22 SMART
Meta Mutation Damage Score 0.5221 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. Mice lacking a functional copy of this gene exhibit progressive loss of motor neurons, and more rapid blood clot formation. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice showed no obvious major abnormalities, but exhibit progressive postnatal losses of spinal, facial, and trigeminal motoneurons, accelerated thrombus formation following injury, and decreased bleeding times. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null Het
Other mutations in Gdf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0090:Gdf15 UTSW 8 71,082,334 (GRCm39) missense probably damaging 1.00
R1183:Gdf15 UTSW 8 71,084,202 (GRCm39) missense probably benign 0.18
R4049:Gdf15 UTSW 8 71,082,605 (GRCm39) missense probably benign
R4820:Gdf15 UTSW 8 71,082,246 (GRCm39) missense probably damaging 1.00
R5893:Gdf15 UTSW 8 71,082,473 (GRCm39) missense possibly damaging 0.96
R6941:Gdf15 UTSW 8 71,082,794 (GRCm39) missense possibly damaging 0.93
R7161:Gdf15 UTSW 8 71,083,992 (GRCm39) missense possibly damaging 0.93
X0066:Gdf15 UTSW 8 71,082,275 (GRCm39) missense possibly damaging 0.95
Z1176:Gdf15 UTSW 8 71,082,540 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATTTGTCCAGCTCCGGTCTAG -3'
(R):5'- CTCAGGACACAAGCGACATG -3'

Sequencing Primer
(F):5'- TCCGGTCTAGGGACGGTCATC -3'
(R):5'- GGCTCTCAACTGAGGTTCCTG -3'
Posted On 2019-11-12