Mutagenetix > Incidental Mutations

Incidental Mutation 'R5749:Tgfbr3l'

445921

Institutional Source

Beutler Lab

Gene Symbol

Tgfbr3l

Ensembl Gene

ENSMUSG00000089736

Gene Name

transforming growth factor, beta receptor III-like

Synonyms

LOC100039590, Gm14378

MMRRC Submission

043200-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4248214-4251423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4249310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 59 (E59G)

Ref Sequence

ENSEMBL: ENSMUSP00000106621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000011981] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110996] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000129866] [ENSMUST00000145165] [ENSMUST00000208316] [ENSMUST00000208459]

AlphaFold

D3YZZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000003027

SMART Domains

Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:SnAPC_2_like	1	356	5.9e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000062686

SMART Domains

Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
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: E59G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736
AA Change: E59G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110995

SMART Domains

Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART
low complexity region	346	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110996

SMART Domains

Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC
S_TKc	92	352	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110998

SMART Domains

Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000124750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129537

Predicted Effect

probably benign
Transcript: ENSMUST00000129866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142865

Predicted Effect

silent
Transcript: ENSMUST00000145165

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061

Domain	Start	End	E-Value	Type
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: ENSMUST00000207247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208029

Predicted Effect

probably benign
Transcript: ENSMUST00000208316

Predicted Effect

probably benign
Transcript: ENSMUST00000208459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209051

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,324,055		probably null	Het
Ankrd12	T	C	17: 65,986,096	S781G	probably benign	Het
Bicc1	A	G	10: 70,946,969	S523P	probably benign	Het
Ccdc163	T	A	4: 116,714,112	C44*	probably null	Het
Ccdc83	T	C	7: 90,223,948	T400A	probably damaging	Het
Cobl	A	G	11: 12,266,965	S426P	possibly damaging	Het
Cyhr1	A	C	15: 76,658,644		probably null	Het
Cyp2b19	T	C	7: 26,763,419	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,639,347	C92G	probably damaging	Het
Fam90a1a	T	A	8: 21,963,041	S137R	possibly damaging	Het
Fbxo17	G	A	7: 28,737,472	R284H	probably damaging	Het
Fem1b	A	G	9: 62,797,006	L324P	probably damaging	Het
Fsd1	T	A	17: 55,995,849		probably null	Het
Gtpbp4	A	G	13: 8,995,947		probably null	Het
Ifi209	A	C	1: 173,637,327	I8L	probably damaging	Het
Itga8	T	C	2: 12,262,078	E182G	probably damaging	Het
Itsn1	T	A	16: 91,906,855	L87H	probably damaging	Het
Klk1b16	T	C	7: 44,140,786	I160T	probably benign	Het
Lbp	T	A	2: 158,319,753	V52D	probably damaging	Het
Med23	T	C	10: 24,888,449	V318A	possibly damaging	Het
Myo16	C	T	8: 10,413,245	S604L	probably benign	Het
Olfr1113	C	T	2: 87,212,943	T17I	probably benign	Het
Olfr1448	A	G	19: 12,920,225	V28A	probably benign	Het
Olfr1510	T	A	14: 52,410,504	M123L	probably damaging	Het
Olfr768	A	T	10: 129,093,097	N292K	probably damaging	Het
Pcdh8	T	C	14: 79,770,085	D346G	probably damaging	Het
Ppara	A	T	15: 85,789,028	D140V	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Prss36	T	A	7: 127,933,642	I192F	probably damaging	Het
Psg25	T	C	7: 18,524,851	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,856,371	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,242,757	T796S	probably damaging	Het
Stard9	A	G	2: 120,703,786	H3508R	probably damaging	Het
Tep1	T	A	14: 50,844,072	D1282V	possibly damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Tns3	A	T	11: 8,451,177	H1040Q	probably benign	Het
Usp10	G	A	8: 119,941,133	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,733,273	T512A	probably benign	Het
Vmn2r52	C	T	7: 10,159,032	D727N	probably damaging	Het
Vmn2r66	T	A	7: 85,006,771	K346*	probably null	Het
Vmn2r93	T	A	17: 18,298,284	F2I	probably benign	Het
Zfp697	T	C	3: 98,425,464	S69P	probably benign	Het

Other mutations in Tgfbr3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0526:Tgfbr3l	UTSW	8	4249439	missense	possibly damaging	0.93
R1757:Tgfbr3l	UTSW	8	4249548	missense	probably benign	0.43
R1764:Tgfbr3l	UTSW	8	4249282	missense	probably benign	0.02
R1899:Tgfbr3l	UTSW	8	4249600	missense	probably damaging	1.00
R2266:Tgfbr3l	UTSW	8	4250506	missense	probably benign	0.01
R2267:Tgfbr3l	UTSW	8	4250506	missense	probably benign	0.01
R2268:Tgfbr3l	UTSW	8	4250506	missense	probably benign	0.01
R2844:Tgfbr3l	UTSW	8	4249280	missense	probably damaging	0.97
R2845:Tgfbr3l	UTSW	8	4249280	missense	probably damaging	0.97
R2846:Tgfbr3l	UTSW	8	4249280	missense	probably damaging	0.97
R4695:Tgfbr3l	UTSW	8	4250574	missense	probably benign	0.33
R5059:Tgfbr3l	UTSW	8	4249343	critical splice donor site	probably null
R5708:Tgfbr3l	UTSW	8	4250360	missense	probably damaging	0.96
R6898:Tgfbr3l	UTSW	8	4250365	missense	possibly damaging	0.70
R7078:Tgfbr3l	UTSW	8	4249238	missense	probably damaging	0.98
R7745:Tgfbr3l	UTSW	8	4250622	missense	possibly damaging	0.73
R9013:Tgfbr3l	UTSW	8	4250620	missense	possibly damaging	0.53
R9368:Tgfbr3l	UTSW	8	4249640	missense	probably damaging	0.99
X0021:Tgfbr3l	UTSW	8	4249642	missense	probably damaging	0.97
Z1176:Tgfbr3l	UTSW	8	4250508	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TTGGAAAGAATTTGGCATGCGG -3'
(R):5'- TACTGAGCATCGGTGAAGGG -3'

Sequencing Primer
(F):5'- GGTAAAGAGACCACCTGTAATGCATC -3'
(R):5'- CATCGGTGAAGGGCTAGGC -3'

Posted On

2016-11-21