Incidental Mutation 'R2266:Tgfbr3l'
ID 242035
Institutional Source Beutler Lab
Gene Symbol Tgfbr3l
Ensembl Gene ENSMUSG00000089736
Gene Name transforming growth factor, beta receptor III-like
Synonyms Gm14378, LOC100039590
MMRRC Submission 040266-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2266 (G1)
Quality Score 179
Status Validated
Chromosome 8
Chromosomal Location 4298214-4301423 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4300506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 228 (E228G)
Ref Sequence ENSEMBL: ENSMUSP00000106621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000011981] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000129866] [ENSMUST00000208316] [ENSMUST00000110996] [ENSMUST00000145165] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000208459]
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 benign
Transcript: ENSMUST00000110993
AA Change: E228G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736
AA Change: E228G

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 noncoding transcript
Transcript: ENSMUST00000129537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124750
Predicted Effect probably benign
Transcript: ENSMUST00000129866
Predicted Effect probably benign
Transcript: ENSMUST00000208110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142865
Predicted Effect probably benign
Transcript: ENSMUST00000208316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208029
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 probably benign
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 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: ENSMUST00000208459
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209051
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bsn T A 9: 107,992,323 (GRCm39) D1143V probably damaging Het
Cacna2d2 T C 9: 107,390,479 (GRCm39) V317A probably damaging Het
Cdh1 G A 8: 107,388,635 (GRCm39) V564I probably benign Het
Cep250 T C 2: 155,818,090 (GRCm39) V814A probably benign Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyb561d1 A T 3: 108,106,720 (GRCm39) H166Q probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgkd A G 1: 87,855,540 (GRCm39) probably benign Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Ecpas A T 4: 58,830,332 (GRCm39) probably null Het
Eid1 A G 2: 125,515,344 (GRCm39) D78G possibly damaging Het
Emid1 T A 11: 5,094,331 (GRCm39) Q60L probably damaging Het
Fam135a A T 1: 24,067,878 (GRCm39) V801E probably benign Het
Foxh1 A G 15: 76,552,820 (GRCm39) V298A probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
Grid2ip C T 5: 143,371,847 (GRCm39) P690L probably benign Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klra10 A G 6: 130,246,264 (GRCm39) V237A probably benign Het
Klre1 A G 6: 129,562,593 (GRCm39) K206R probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Med23 T G 10: 24,750,499 (GRCm39) S109A probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Naip6 A G 13: 100,420,067 (GRCm39) V1401A possibly damaging Het
Ncapg2 A G 12: 116,393,296 (GRCm39) E500G probably damaging Het
Nlrp12 T C 7: 3,282,575 (GRCm39) I775V probably benign Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Polq C A 16: 36,882,515 (GRCm39) Q1560K possibly damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Ptprm A T 17: 67,032,846 (GRCm39) probably null Het
Ripk2 A T 4: 16,152,011 (GRCm39) S183T possibly damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rttn A G 18: 89,082,295 (GRCm39) N1407S probably benign Het
Sec14l1 A T 11: 117,047,314 (GRCm39) H664L probably damaging Het
Slc10a7 G A 8: 79,236,264 (GRCm39) G21S probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spesp1 A T 9: 62,180,834 (GRCm39) L25M probably damaging Het
St6galnac1 G A 11: 116,658,673 (GRCm39) Q264* probably null Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tnfsf13b A T 8: 10,057,306 (GRCm39) R125S probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vmn1r38 G T 6: 66,753,433 (GRCm39) Q228K probably benign Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Xrn1 A G 9: 95,888,765 (GRCm39) D948G possibly damaging Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zfp418 G A 7: 7,185,807 (GRCm39) R590K probably benign 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
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
R2845: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'- ACCTGCACATGCTGACACAG -3'
(R):5'- AGGTTCAGGGATATGGGCTC -3'

Sequencing Primer
(F):5'- GCCCATCGTGGTCACAATAC -3'
(R):5'- GACTACTAGACTGTCTGAACGTG -3'
Posted On 2014-10-16