Incidental Mutation 'R1253:Thbs4'
ID 151855
Institutional Source Beutler Lab
Gene Symbol Thbs4
Ensembl Gene ENSMUSG00000021702
Gene Name thrombospondin 4
Synonyms TSP4, TSP-4
MMRRC Submission 039320-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1253 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92888098-92931326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 92913413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 169 (P169Q)
Ref Sequence ENSEMBL: ENSMUSP00000022213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022213]
AlphaFold Q9Z1T2
Predicted Effect probably benign
Transcript: ENSMUST00000022213
AA Change: P169Q

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: P169Q

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
TSPN 26 194 1.66e-51 SMART
Pfam:COMP 220 264 1.2e-24 PFAM
low complexity region 280 290 N/A INTRINSIC
EGF 291 327 1.04e-3 SMART
EGF_CA 328 380 7.29e-8 SMART
EGF_CA 381 421 1.42e-10 SMART
EGF 425 464 4.32e-1 SMART
Pfam:TSP_3 498 533 7.1e-15 PFAM
Pfam:TSP_3 557 592 7.8e-17 PFAM
Pfam:TSP_3 616 653 1.4e-11 PFAM
Pfam:TSP_3 654 693 1.3e-10 PFAM
Pfam:TSP_3 694 729 1e-14 PFAM
Pfam:TSP_C 747 944 3.8e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168299
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to cardiac pressure overload, including increased hypertrophy, decreased ejection fraction, decreased microvessle number, increased extracellular matrix deposition and increased fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 G A 6: 83,499,869 (GRCm39) T127I probably damaging Het
Aph1b T A 9: 66,697,931 (GRCm39) K102* probably null Het
Caskin1 A G 17: 24,724,047 (GRCm39) K945R probably damaging Het
Ccdc137 C A 11: 120,349,005 (GRCm39) A12E probably benign Het
Cdhr1 A G 14: 36,801,582 (GRCm39) M787T probably benign Het
Cic T A 7: 24,990,373 (GRCm39) V1958E probably damaging Het
Col6a6 T A 9: 105,651,502 (GRCm39) I1170F probably null Het
Cyp2c54 T A 19: 40,034,629 (GRCm39) Y347F probably damaging Het
Kntc1 AGTGT AGT 5: 123,948,925 (GRCm39) probably null Het
Large1 T C 8: 73,775,050 (GRCm39) Y220C probably damaging Het
Macf1 A T 4: 123,351,760 (GRCm39) D1592E probably damaging Het
Mtus2 C T 5: 148,240,380 (GRCm39) Q76* probably null Het
Olfm3 A T 3: 114,916,418 (GRCm39) D450V probably damaging Het
Or1l4b T A 2: 37,036,884 (GRCm39) V220D possibly damaging Het
Or4k6 A G 14: 50,475,581 (GRCm39) C254R probably damaging Het
Or5ae1 T A 7: 84,565,917 (GRCm39) I310K probably benign Het
Ormdl1 G A 1: 53,344,681 (GRCm39) R81K possibly damaging Het
Pcdhb12 G A 18: 37,568,874 (GRCm39) V7I possibly damaging Het
Ptprt A G 2: 162,120,146 (GRCm39) I107T probably damaging Het
Rbm27 A C 18: 42,434,839 (GRCm39) D301A probably damaging Het
Rexo2 A T 9: 48,380,232 (GRCm39) I200N probably damaging Het
Rtn4ip1 A T 10: 43,786,867 (GRCm39) I192L probably benign Het
Serpinb9e T C 13: 33,439,102 (GRCm39) F176S possibly damaging Het
Sorcs3 C A 19: 48,195,175 (GRCm39) A186E possibly damaging Het
Spata31 A G 13: 65,069,838 (GRCm39) Y662C probably benign Het
Sphkap G A 1: 83,256,619 (GRCm39) P377S possibly damaging Het
Srrt T C 5: 137,298,598 (GRCm39) K222R probably benign Het
Tas2r129 T C 6: 132,928,999 (GRCm39) I312T probably benign Het
Tmtc3 T C 10: 100,287,252 (GRCm39) M515V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Other mutations in Thbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Thbs4 APN 13 92,913,488 (GRCm39) missense probably benign 0.04
IGL02318:Thbs4 APN 13 92,900,092 (GRCm39) missense probably damaging 1.00
IGL02887:Thbs4 APN 13 92,927,306 (GRCm39) missense probably benign 0.00
IGL03205:Thbs4 APN 13 92,899,282 (GRCm39) missense probably damaging 1.00
IGL03382:Thbs4 APN 13 92,906,056 (GRCm39) missense probably benign 0.37
R0087:Thbs4 UTSW 13 92,891,743 (GRCm39) missense probably damaging 0.99
R0128:Thbs4 UTSW 13 92,890,918 (GRCm39) missense probably benign 0.00
R0130:Thbs4 UTSW 13 92,890,918 (GRCm39) missense probably benign 0.00
R0276:Thbs4 UTSW 13 92,912,040 (GRCm39) missense probably benign 0.00
R0423:Thbs4 UTSW 13 92,893,079 (GRCm39) missense probably damaging 0.99
R0504:Thbs4 UTSW 13 92,903,692 (GRCm39) missense probably benign 0.04
R0708:Thbs4 UTSW 13 92,909,694 (GRCm39) missense probably damaging 1.00
R0836:Thbs4 UTSW 13 92,894,546 (GRCm39) missense probably damaging 1.00
R1078:Thbs4 UTSW 13 92,899,434 (GRCm39) splice site probably benign
R1139:Thbs4 UTSW 13 92,911,226 (GRCm39) missense probably damaging 1.00
R1342:Thbs4 UTSW 13 92,888,925 (GRCm39) missense probably damaging 1.00
R1416:Thbs4 UTSW 13 92,898,041 (GRCm39) missense probably benign
R1834:Thbs4 UTSW 13 92,897,989 (GRCm39) missense probably benign 0.00
R1950:Thbs4 UTSW 13 92,906,079 (GRCm39) missense probably damaging 0.99
R2056:Thbs4 UTSW 13 92,927,387 (GRCm39) missense probably benign 0.00
R2184:Thbs4 UTSW 13 92,911,302 (GRCm39) missense probably benign
R2198:Thbs4 UTSW 13 92,899,779 (GRCm39) missense possibly damaging 0.78
R2859:Thbs4 UTSW 13 92,927,216 (GRCm39) missense probably benign 0.02
R3605:Thbs4 UTSW 13 92,894,467 (GRCm39) nonsense probably null
R3783:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R3784:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R3786:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R3787:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R4061:Thbs4 UTSW 13 92,912,605 (GRCm39) critical splice donor site probably null
R4790:Thbs4 UTSW 13 92,899,314 (GRCm39) missense probably damaging 1.00
R4968:Thbs4 UTSW 13 92,894,576 (GRCm39) missense possibly damaging 0.55
R4983:Thbs4 UTSW 13 92,927,207 (GRCm39) missense probably benign 0.29
R5185:Thbs4 UTSW 13 92,911,675 (GRCm39) missense probably damaging 0.97
R5352:Thbs4 UTSW 13 92,900,098 (GRCm39) missense probably damaging 1.00
R5361:Thbs4 UTSW 13 92,913,501 (GRCm39) missense probably benign
R5589:Thbs4 UTSW 13 92,912,582 (GRCm39) splice site probably null
R5700:Thbs4 UTSW 13 92,913,461 (GRCm39) missense probably benign 0.00
R6061:Thbs4 UTSW 13 92,888,303 (GRCm39) missense probably benign 0.00
R6101:Thbs4 UTSW 13 92,911,993 (GRCm39) missense possibly damaging 0.90
R6105:Thbs4 UTSW 13 92,911,993 (GRCm39) missense possibly damaging 0.90
R6227:Thbs4 UTSW 13 92,911,190 (GRCm39) missense probably null 1.00
R6249:Thbs4 UTSW 13 92,911,215 (GRCm39) missense probably damaging 1.00
R6651:Thbs4 UTSW 13 92,893,044 (GRCm39) missense probably benign 0.06
R6735:Thbs4 UTSW 13 92,891,674 (GRCm39) missense possibly damaging 0.71
R6885:Thbs4 UTSW 13 92,899,377 (GRCm39) missense probably damaging 0.96
R6913:Thbs4 UTSW 13 92,894,444 (GRCm39) missense possibly damaging 0.94
R7409:Thbs4 UTSW 13 92,909,767 (GRCm39) nonsense probably null
R7480:Thbs4 UTSW 13 92,903,729 (GRCm39) missense probably benign 0.00
R7682:Thbs4 UTSW 13 92,912,070 (GRCm39) missense probably benign 0.21
R8022:Thbs4 UTSW 13 92,888,955 (GRCm39) missense probably damaging 1.00
R8213:Thbs4 UTSW 13 92,897,094 (GRCm39) critical splice acceptor site probably null
R8231:Thbs4 UTSW 13 92,911,352 (GRCm39) missense probably benign
R8353:Thbs4 UTSW 13 92,927,325 (GRCm39) missense probably benign 0.04
R8445:Thbs4 UTSW 13 92,927,349 (GRCm39) missense probably benign 0.00
R8453:Thbs4 UTSW 13 92,927,325 (GRCm39) missense probably benign 0.04
R8520:Thbs4 UTSW 13 92,890,792 (GRCm39) nonsense probably null
R8560:Thbs4 UTSW 13 92,891,608 (GRCm39) missense probably damaging 0.97
R8774:Thbs4 UTSW 13 92,898,030 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Thbs4 UTSW 13 92,898,030 (GRCm39) missense probably damaging 1.00
R9061:Thbs4 UTSW 13 92,911,187 (GRCm39) critical splice donor site probably null
R9223:Thbs4 UTSW 13 92,897,998 (GRCm39) missense probably damaging 1.00
R9653:Thbs4 UTSW 13 92,898,022 (GRCm39) missense probably benign
R9691:Thbs4 UTSW 13 92,890,896 (GRCm39) missense probably damaging 1.00
R9778:Thbs4 UTSW 13 92,913,495 (GRCm39) missense probably benign 0.17
Z1177:Thbs4 UTSW 13 92,890,884 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTTTGAAAGGTCACCTCCAAGG -3'
(R):5'- CATCTGGTGGTGTTCAACAACTTGC -3'

Sequencing Primer
(F):5'- tgtgaattaaaagaaaattgctgcc -3'
(R):5'- TGTAGAACTCTACCTGGACTGC -3'
Posted On 2014-01-29