Incidental Mutation 'R2845:Tgfbr3l'
ID 251521
Institutional Source Beutler Lab
Gene Symbol Tgfbr3l
Ensembl Gene ENSMUSG00000089736
Gene Name transforming growth factor, beta receptor III-like
Synonyms Gm14378, LOC100039590
MMRRC Submission 040438-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2845 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 4298214-4301423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4299280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000106621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000011981] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000145165] [ENSMUST00000208459] [ENSMUST00000129866] [ENSMUST00000208316] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000110996]
AlphaFold D3YZZ2
Predicted Effect probably benign
Transcript: ENSMUST00000003027
SMART Domains Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
low complexity region 435 455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000011981
SMART Domains Protein: ENSMUSP00000011981
Gene: ENSMUSG00000011837

DomainStartEndE-ValueType
Pfam:SnAPC_2_like 1 356 5.9e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062686
SMART Domains Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110993
AA Change: D49G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736
AA Change: D49G

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
Pfam:Zona_pellucida 16 161 6.6e-15 PFAM
low complexity region 210 224 N/A INTRINSIC
low complexity region 227 263 N/A INTRINSIC
low complexity region 269 276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110994
SMART Domains Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110995
SMART Domains Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
low complexity region 346 366 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000145165
SMART Domains Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208029
Predicted Effect probably benign
Transcript: ENSMUST00000208459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124750
Predicted Effect probably benign
Transcript: ENSMUST00000129866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207247
Predicted Effect probably benign
Transcript: ENSMUST00000208316
Predicted Effect probably benign
Transcript: ENSMUST00000110998
SMART Domains Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
S_TKc 120 380 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110999
SMART Domains Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
S_TKc 120 380 8.43e-72 SMART
low complexity region 419 439 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110996
SMART Domains Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
S_TKc 92 352 8.43e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209051
Meta Mutation Damage Score 0.0907 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 C T 6: 87,436,949 (GRCm39) E634K possibly damaging Het
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cep152 A G 2: 125,429,894 (GRCm39) I676T probably damaging Het
Cherp C A 8: 73,220,247 (GRCm39) A449S probably damaging Het
Col19a1 C T 1: 24,598,762 (GRCm39) G77E unknown Het
Cplane1 G A 15: 8,245,864 (GRCm39) R1412H probably damaging Het
Csnk1g2 A G 10: 80,474,438 (GRCm39) S220G probably damaging Het
Efcab7 T A 4: 99,766,835 (GRCm39) V20D probably damaging Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Frem3 T C 8: 81,339,849 (GRCm39) F714S probably damaging Het
Gpx6 A T 13: 21,503,045 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mrgpra2a T A 7: 47,076,878 (GRCm39) M127L probably benign Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Plekhh3 T C 11: 101,061,056 (GRCm39) probably benign Het
Pramel22 G A 4: 143,380,868 (GRCm39) S385F probably damaging Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Ptpru T A 4: 131,546,972 (GRCm39) I168F probably benign Het
Sbf1 A G 15: 89,187,421 (GRCm39) probably null Het
Skint10 T C 4: 112,573,023 (GRCm39) S258G probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
Tas2r138 T C 6: 40,589,701 (GRCm39) S182G probably benign Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp24 G T 18: 24,150,885 (GRCm39) T87K probably damaging Het
Zfp407 G T 18: 84,576,522 (GRCm39) C1530* probably null Het
Other mutations in Tgfbr3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0526:Tgfbr3l UTSW 8 4,299,439 (GRCm39) missense possibly damaging 0.93
R1757:Tgfbr3l UTSW 8 4,299,548 (GRCm39) missense probably benign 0.43
R1764:Tgfbr3l UTSW 8 4,299,282 (GRCm39) missense probably benign 0.02
R1899:Tgfbr3l UTSW 8 4,299,600 (GRCm39) missense probably damaging 1.00
R2266:Tgfbr3l UTSW 8 4,300,506 (GRCm39) missense probably benign 0.01
R2267:Tgfbr3l UTSW 8 4,300,506 (GRCm39) missense probably benign 0.01
R2268:Tgfbr3l UTSW 8 4,300,506 (GRCm39) missense probably benign 0.01
R2844:Tgfbr3l UTSW 8 4,299,280 (GRCm39) missense probably damaging 0.97
R2846:Tgfbr3l UTSW 8 4,299,280 (GRCm39) missense probably damaging 0.97
R4695:Tgfbr3l UTSW 8 4,300,574 (GRCm39) missense probably benign 0.33
R5059:Tgfbr3l UTSW 8 4,299,343 (GRCm39) critical splice donor site probably null
R5708:Tgfbr3l UTSW 8 4,300,360 (GRCm39) missense probably damaging 0.96
R5749:Tgfbr3l UTSW 8 4,299,310 (GRCm39) missense probably damaging 0.97
R6898:Tgfbr3l UTSW 8 4,300,365 (GRCm39) missense possibly damaging 0.70
R7078:Tgfbr3l UTSW 8 4,299,238 (GRCm39) missense probably damaging 0.98
R7745:Tgfbr3l UTSW 8 4,300,622 (GRCm39) missense possibly damaging 0.73
R9013:Tgfbr3l UTSW 8 4,300,620 (GRCm39) missense possibly damaging 0.53
R9368:Tgfbr3l UTSW 8 4,299,640 (GRCm39) missense probably damaging 0.99
R9539:Tgfbr3l UTSW 8 4,299,679 (GRCm39) missense probably damaging 0.99
X0021:Tgfbr3l UTSW 8 4,299,642 (GRCm39) missense probably damaging 0.97
Z1176:Tgfbr3l UTSW 8 4,300,508 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GAATTTGGCATGCGGCTGAG -3'
(R):5'- AAGGTGTTACTGAGCATCGG -3'

Sequencing Primer
(F):5'- CTGAGCATGGGTAAAGAGACCACC -3'
(R):5'- TTACTGAGCATCGGTGAAGGGC -3'
Posted On 2014-12-04