Mutagenetix > Incidental Mutation

Incidental Mutation 'R0037:Tprg1l'

15659

Institutional Source

Beutler Lab

Gene Symbol

Tprg1l

Ensembl Gene

ENSMUSG00000029030

Gene Name

transformation related protein 63 regulated 1 like

Synonyms

1200015A19Rik, Tprgl, mover

MMRRC Submission

038331-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0037 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

154241942-154245123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154244594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 134 (V134L)

Ref Sequence

ENSEMBL: ENSMUSP00000030896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030895] [ENSMUST00000030896] [ENSMUST00000105639]

AlphaFold

Q9DBS2

Predicted Effect

probably benign
Transcript: ENSMUST00000030895

SMART Domains

Protein: ENSMUSP00000030895
Gene: ENSMUSG00000029029

Domain	Start	End	E-Value	Type
Blast:WD40	38	77	4e-18	BLAST
Blast:WD40	81	120	6e-16	BLAST
Blast:WD40	125	163	9e-6	BLAST
WD40	167	208	2.28e2	SMART
WD40	215	251	1.58e-2	SMART
WD40	319	360	2.29e1	SMART
WD40	363	401	4.18e-2	SMART
Blast:WD40	402	443	2e-19	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030896
AA Change: V134L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030896
Gene: ENSMUSG00000029030
AA Change: V134L

Domain	Start	End	E-Value	Type
Pfam:hSac2	56	163	3.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105639

SMART Domains

Protein: ENSMUSP00000101264
Gene: ENSMUSG00000029030

Domain	Start	End	E-Value	Type
Pfam:hSac2	53	106	6.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142665

Predicted Effect

probably benign
Transcript: ENSMUST00000146734

SMART Domains

Protein: ENSMUSP00000118548
Gene: ENSMUSG00000029029

Domain	Start	End	E-Value	Type
WD40	28	64	1.58e-2	SMART

Meta Mutation Damage Score

0.1427

Coding Region Coverage

1x: 81.5%
3x: 73.9%
10x: 52.8%
20x: 32.9%

Validation Efficiency

94% (83/88)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,769,891 (GRCm39)	R330Q	possibly damaging	Het
Amph	A	T	13: 19,284,823 (GRCm39)	S250C	possibly damaging	Het
Ankrd61	T	C	5: 143,831,795 (GRCm39)	N3S	probably damaging	Het
Camsap2	C	T	1: 136,209,630 (GRCm39)	E621K	probably damaging	Het
Cpt2	A	G	4: 107,765,171 (GRCm39)	S152P	probably damaging	Het
Csmd1	T	A	8: 15,967,248 (GRCm39)	Q3205L	probably damaging	Het
Dag1	G	T	9: 108,084,552 (GRCm39)	P863Q	probably damaging	Het
Dclk1	A	G	3: 55,163,480 (GRCm39)	I191V	probably benign	Het
Ddhd1	A	G	14: 45,847,967 (GRCm39)	L567P	probably damaging	Het
Enox1	T	C	14: 77,936,750 (GRCm39)		probably benign	Het
Exoc3	T	C	13: 74,347,658 (GRCm39)	E104G	probably damaging	Het
Foxp1	T	A	6: 99,139,930 (GRCm39)	Q17L	probably damaging	Het
Fscn1	A	G	5: 142,956,449 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,411,811 (GRCm39)	V91A	probably benign	Het
Gm5475	T	A	15: 100,322,083 (GRCm39)	Y77*	probably null	Het
Gm5800	T	C	14: 51,953,605 (GRCm39)		probably benign	Het
Hs2st1	T	A	3: 144,143,405 (GRCm39)	K213*	probably null	Het
Il5ra	T	A	6: 106,719,647 (GRCm39)	Y62F	probably damaging	Het
Inpp5d	A	G	1: 87,635,851 (GRCm39)	E734G	probably damaging	Het
Insig2	A	T	1: 121,234,649 (GRCm39)	C194S	probably damaging	Het
Lemd3	A	C	10: 120,761,361 (GRCm39)	H898Q	possibly damaging	Het
Lrp4	A	G	2: 91,301,548 (GRCm39)	T43A	probably benign	Het
Mast3	C	T	8: 71,236,343 (GRCm39)		probably null	Het
Melk	T	C	4: 44,360,864 (GRCm39)		probably benign	Het
Myo10	C	T	15: 25,666,618 (GRCm39)		probably benign	Het
Nlrc5	G	A	8: 95,216,163 (GRCm39)	V967M	probably benign	Het
Nlrp9b	T	A	7: 19,757,647 (GRCm39)	F295I	probably damaging	Het
Phf3	A	T	1: 30,843,999 (GRCm39)	D1653E	probably benign	Het
Ppfia4	A	T	1: 134,251,827 (GRCm39)	L449Q	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,129 (GRCm39)	I367N	probably damaging	Het
Ralgapb	T	C	2: 158,279,331 (GRCm39)	L139S	probably damaging	Het
Slc20a1	T	C	2: 129,052,692 (GRCm39)	V658A	probably damaging	Het
Son	C	A	16: 91,461,616 (GRCm39)	A347E	probably damaging	Het
Trim24	A	T	6: 37,934,484 (GRCm39)	N733I	probably damaging	Het
Uggt1	A	T	1: 36,225,013 (GRCm39)	D540E	probably benign	Het
Urb2	T	A	8: 124,773,934 (GRCm39)	F1488L	probably damaging	Het
Utp20	T	C	10: 88,634,266 (GRCm39)	D810G	probably benign	Het
Zfp473	T	A	7: 44,383,324 (GRCm39)	K335N	probably damaging	Het

Other mutations in Tprg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Tprg1l	APN	4	154,242,890 (GRCm39)	missense	probably damaging	1.00
R0025:Tprg1l	UTSW	4	154,244,802 (GRCm39)	splice site	probably benign
R0321:Tprg1l	UTSW	4	154,243,812 (GRCm39)	missense	probably damaging	1.00
R1664:Tprg1l	UTSW	4	154,243,862 (GRCm39)	missense	possibly damaging	0.74
R3737:Tprg1l	UTSW	4	154,244,585 (GRCm39)	missense	probably benign	0.34
R6056:Tprg1l	UTSW	4	154,244,552 (GRCm39)	missense	probably damaging	1.00
R6513:Tprg1l	UTSW	4	154,243,862 (GRCm39)	missense	probably benign	0.14
R7289:Tprg1l	UTSW	4	154,245,031 (GRCm39)	missense	possibly damaging	0.68
R8321:Tprg1l	UTSW	4	154,244,860 (GRCm39)	missense	probably benign	0.04
R8362:Tprg1l	UTSW	4	154,244,815 (GRCm39)	missense	possibly damaging	0.81
R8992:Tprg1l	UTSW	4	154,242,890 (GRCm39)	missense	probably damaging	1.00
R9046:Tprg1l	UTSW	4	154,242,913 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21