Incidental Mutation 'R6941:Gdf15'
ID 540548
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 045055-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6941 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 71082043-71085106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71082794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 104 (L104P)
Ref Sequence ENSEMBL: ENSMUSP00000105730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003808] [ENSMUST00000110103]
AlphaFold Q9Z0J7
Predicted Effect possibly damaging
Transcript: ENSMUST00000003808
AA Change: L104P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003808
Gene: ENSMUSG00000038508
AA Change: L104P

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: L104P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105730
Gene: ENSMUSG00000038508
AA Change: L104P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.0%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,140,370 (GRCm39) I1557F probably damaging Het
Acad10 A T 5: 121,787,420 (GRCm39) D176E probably damaging Het
Acta2 A T 19: 34,229,922 (GRCm39) V11E probably damaging Het
Ampd2 T C 3: 107,986,609 (GRCm39) H225R probably damaging Het
Arfgef3 A G 10: 18,501,203 (GRCm39) Y1016H possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU018091 A G 7: 3,209,267 (GRCm39) probably null Het
Birc2 A G 9: 7,819,469 (GRCm39) V481A probably benign Het
Cabp1 A T 5: 115,310,960 (GRCm39) D295E probably damaging Het
Cd180 A T 13: 102,842,699 (GRCm39) T582S probably benign Het
Cnksr3 A G 10: 7,076,758 (GRCm39) S145P probably damaging Het
Ddx27 A G 2: 166,857,297 (GRCm39) D15G possibly damaging Het
Dsc1 T C 18: 20,230,246 (GRCm39) Y353C probably benign Het
Dsg1c C T 18: 20,400,980 (GRCm39) T161I probably damaging Het
Epm2a A G 10: 11,266,829 (GRCm39) probably null Het
Fat2 T C 11: 55,152,914 (GRCm39) H3766R probably benign Het
Fjx1 A G 2: 102,280,903 (GRCm39) V344A probably benign Het
Frmd3 A G 4: 74,016,363 (GRCm39) I93V probably benign Het
Gbe1 TAGTAAGAGT TAGT 16: 70,230,444 (GRCm39) probably benign Het
Glra3 G A 8: 56,393,961 (GRCm39) R24Q probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ipmk G A 10: 71,183,920 (GRCm39) G47S probably null Het
Itsn2 T C 12: 4,679,641 (GRCm39) I150T probably benign Het
Kcnq5 T C 1: 21,476,068 (GRCm39) Y545C probably damaging Het
Klk1b8 C A 7: 43,602,213 (GRCm39) H48Q possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc34 T C 3: 30,678,969 (GRCm39) Y376C probably benign Het
Mast4 A T 13: 102,941,222 (GRCm39) D278E probably damaging Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Ndst4 T G 3: 125,403,160 (GRCm39) H422Q possibly damaging Het
Nek7 T C 1: 138,430,376 (GRCm39) E206G probably damaging Het
Nufip2 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 77,577,122 (GRCm39) probably benign Het
Or5b99 T A 19: 12,976,861 (GRCm39) N170K possibly damaging Het
Pglyrp2 T C 17: 32,635,048 (GRCm39) Y438C probably damaging Het
Pigr G T 1: 130,775,064 (GRCm39) W497L probably damaging Het
Pkd2l2 G T 18: 34,549,936 (GRCm39) V194L probably benign Het
Ppp1r16b A T 2: 158,538,068 (GRCm39) K5M probably damaging Het
Psat1 A T 19: 15,898,307 (GRCm39) S35R probably damaging Het
Qrfprl G A 6: 65,424,385 (GRCm39) M126I probably damaging Het
Rab11fip1 G A 8: 27,646,303 (GRCm39) Q258* probably null Het
Rad51d A G 11: 82,780,623 (GRCm39) L53P probably damaging Het
Rell2 G A 18: 38,091,341 (GRCm39) A169T probably benign Het
Rnf19b T C 4: 128,976,572 (GRCm39) I545T probably benign Het
Slc12a1 G T 2: 125,055,999 (GRCm39) E843D possibly damaging Het
Slc1a4 A G 11: 20,254,346 (GRCm39) S507P probably damaging Het
Slc6a1 G A 6: 114,290,473 (GRCm39) W316* probably null Het
Spesp1 A G 9: 62,180,152 (GRCm39) L252P probably damaging Het
Sphkap G A 1: 83,385,811 (GRCm39) probably benign Het
Srcap A G 7: 127,141,769 (GRCm39) T1850A probably damaging Het
Supv3l1 T C 10: 62,266,365 (GRCm39) T604A possibly damaging Het
Tacr1 A G 6: 82,380,846 (GRCm39) T86A possibly damaging Het
Tenm3 T C 8: 49,127,451 (GRCm39) R76G probably damaging Het
Tmprss6 C A 15: 78,330,977 (GRCm39) A419S probably damaging Het
Usp54 T G 14: 20,612,177 (GRCm39) I880L probably benign Het
Wwp2 T A 8: 108,275,134 (GRCm39) V377D probably damaging Het
Zfp735 A T 11: 73,581,159 (GRCm39) E65D probably benign Het
Zfy2 T C Y: 2,121,491 (GRCm39) E134G probably benign 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
R7161:Gdf15 UTSW 8 71,083,992 (GRCm39) missense possibly damaging 0.93
R7690:Gdf15 UTSW 8 71,083,997 (GRCm39) missense possibly damaging 0.68
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'- CAGTCTCCAAGTGACAGCAG -3'
(R):5'- TCTGTCGCTAAGAGCAAAATCAAC -3'

Sequencing Primer
(F):5'- TAAGCGCAGTTCCAGCTG -3'
(R):5'- ATATCTGTGAGTTCAAGGCCAGCC -3'
Posted On 2018-11-06