Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01931:Tpi1'

180430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpi1

Ensembl Gene

ENSMUSG00000023456

Gene Name

triosephosphate isomerase 1

Synonyms

Tpi-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01931

Quality Score

Status

Chromosome

Chromosomal Location

124787549-124791121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124789603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000130858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000122110] [ENSMUST00000130160] [ENSMUST00000172132] [ENSMUST00000149610] [ENSMUST00000143040]

AlphaFold

P17751

Predicted Effect

probably benign
Transcript: ENSMUST00000047510

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-19	BLAST
ZnF_UBP	198	253	6.47e-27	SMART
low complexity region	497	516	N/A	INTRINSIC
UBA	656	694	3.12e-7	SMART
UBA	724	761	8.63e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047760

SMART Domains

Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART
SOCS	219	264	7.93e-13	SMART
SOCS_box	225	264	8.27e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052727

SMART Domains

Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART
SOCS	219	264	7.93e-13	SMART
SOCS_box	225	264	8.27e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112473

SMART Domains

Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122110

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-19	BLAST
ZnF_UBP	198	253	6.47e-27	SMART
low complexity region	497	516	N/A	INTRINSIC
UBA	633	671	3.12e-7	SMART
UBA	701	738	8.63e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130160

SMART Domains

Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	208	1.1e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131805

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172132
AA Change: V152A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
AA Change: V152A

Domain	Start	End	E-Value	Type
Pfam:TIM	57	295	9.2e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149610
AA Change: V20A

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456
AA Change: V20A

Domain	Start	End	E-Value	Type
Pfam:TIM	1	163	1.1e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139716

Predicted Effect

probably benign
Transcript: ENSMUST00000143040

SMART Domains

Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous null mutants die at postimplantation stage. Heterozygotes are normal, but with 50% of normal enzyme activity. Mice heterozygous or homozygous for a hyperactivity allele are otherwise normal. Mice homozygous for a chemically induced allele exhibit symptoms of hemolytic anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 124,917,869 (GRCm39)	E87G	unknown	Het
Ano2	A	G	6: 125,959,708 (GRCm39)	Y656C	probably damaging	Het
Cckbr	T	C	7: 105,075,310 (GRCm39)	S27P	probably benign	Het
Celsr1	T	A	15: 85,791,861 (GRCm39)	N2580I	probably damaging	Het
Cfap221	A	G	1: 119,860,625 (GRCm39)	L667P	probably damaging	Het
Col16a1	T	C	4: 129,966,634 (GRCm39)	C555R	possibly damaging	Het
Dync2h1	A	G	9: 7,114,973 (GRCm39)	V162A	probably damaging	Het
Dync2h1	G	A	9: 7,011,207 (GRCm39)	S3669L	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm4922	A	G	10: 18,660,042 (GRCm39)	S227P	probably benign	Het
Grin2c	A	G	11: 115,144,736 (GRCm39)	F597L	probably damaging	Het
Hook3	G	A	8: 26,578,083 (GRCm39)		probably benign	Het
Ltv1	A	G	10: 13,061,245 (GRCm39)	I106T	probably damaging	Het
Mdc1	T	C	17: 36,159,123 (GRCm39)	V501A	probably benign	Het
Myo15a	T	A	11: 60,386,964 (GRCm39)	C667S	probably damaging	Het
Myom3	T	C	4: 135,516,950 (GRCm39)	V840A	probably benign	Het
Naip1	G	T	13: 100,545,540 (GRCm39)	C1329*	probably null	Het
Oas1c	A	C	5: 120,943,560 (GRCm39)	I193S	probably benign	Het
Osbp2	C	T	11: 3,655,388 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,154,509 (GRCm39)		probably benign	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppox	T	C	1: 171,105,456 (GRCm39)	Q302R	probably null	Het
Sec24b	G	A	3: 129,803,448 (GRCm39)	P305S	probably benign	Het
Spink5	A	T	18: 44,148,705 (GRCm39)	I923F	probably benign	Het
Thsd7a	A	T	6: 12,504,098 (GRCm39)	V352E	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdfy4	C	T	14: 32,877,710 (GRCm39)	G85S	probably damaging	Het
Wnk4	A	G	11: 101,159,310 (GRCm39)	T139A	possibly damaging	Het
Zfp345	T	C	2: 150,315,270 (GRCm39)	H89R	probably benign	Het

Other mutations in Tpi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02268:Tpi1	APN	6	124,791,087 (GRCm39)	missense	probably benign	0.22
R0448:Tpi1	UTSW	6	124,791,066 (GRCm39)	missense	probably damaging	1.00
R1649:Tpi1	UTSW	6	124,789,891 (GRCm39)	splice site	probably null
R1838:Tpi1	UTSW	6	124,791,115 (GRCm39)	missense	probably benign	0.01
R3749:Tpi1	UTSW	6	124,789,754 (GRCm39)	missense	probably damaging	1.00
R4793:Tpi1	UTSW	6	124,789,544 (GRCm39)	intron	probably benign
R6855:Tpi1	UTSW	6	124,789,426 (GRCm39)	missense	probably damaging	0.99
R7250:Tpi1	UTSW	6	124,789,441 (GRCm39)	missense	probably damaging	1.00
R7634:Tpi1	UTSW	6	124,789,817 (GRCm39)	nonsense	probably null
R8791:Tpi1	UTSW	6	124,789,483 (GRCm39)	missense	probably damaging	0.98
R9165:Tpi1	UTSW	6	124,788,501 (GRCm39)	missense	probably benign	0.13
R9175:Tpi1	UTSW	6	124,788,871 (GRCm39)	missense	probably damaging	0.99
R9242:Tpi1	UTSW	6	124,791,138 (GRCm39)	missense	probably benign	0.37

Posted On

2014-05-07