Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Tpi1'

368763

Institutional Source

Beutler Lab

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 #

R4793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124787549-124791121 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 124789544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130858 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000139716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154883

Predicted Effect

probably benign
Transcript: ENSMUST00000172132

SMART Domains

Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149610

SMART Domains

Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,082,544 (GRCm39)	E1143V	probably benign	Het
Abi2	T	A	1: 60,448,963 (GRCm39)	M1K	probably null	Het
Acp2	T	C	2: 91,037,134 (GRCm39)	F205L	probably benign	Het
Adam17	T	C	12: 21,397,396 (GRCm39)	N219D	probably benign	Het
Aldh2	T	C	5: 121,707,042 (GRCm39)	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,032,353 (GRCm39)	E312D	probably damaging	Het
Calm5	T	C	13: 3,904,401 (GRCm39)	S32P	probably benign	Het
Capn12	G	A	7: 28,592,094 (GRCm39)	D671N	probably benign	Het
Ccdc73	A	G	2: 104,848,127 (GRCm39)		probably null	Het
Cdc20	T	A	4: 118,294,261 (GRCm39)	I20F	probably benign	Het
Cdh23	A	T	10: 60,167,129 (GRCm39)	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,087 (GRCm39)	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997 (GRCm39)	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,516,820 (GRCm39)	Y133H	unknown	Het
Csmd1	A	G	8: 16,138,277 (GRCm39)	S1592P	probably damaging	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dock5	A	G	14: 68,037,803 (GRCm39)	S947P	probably benign	Het
Dpysl2	G	T	14: 67,052,498 (GRCm39)	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,647,531 (GRCm39)	D360G	probably damaging	Het
Ensa	T	C	3: 95,532,489 (GRCm39)		probably null	Het
Fap	C	A	2: 62,374,713 (GRCm39)	V229F	probably damaging	Het
Fbn1	C	A	2: 125,163,155 (GRCm39)	G2116*	probably null	Het
Frmd4b	A	T	6: 97,272,822 (GRCm39)	S857T	probably damaging	Het
Fsip2	T	A	2: 82,818,044 (GRCm39)	Y4592*	probably null	Het
Fubp1	T	A	3: 151,928,966 (GRCm39)	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,078,234 (GRCm39)	L66P	probably damaging	Het
Gm10257	T	C	13: 101,083,305 (GRCm39)		noncoding transcript	Het
Gm1758	A	T	16: 14,325,036 (GRCm39)		noncoding transcript	Het
Gna13	T	C	11: 109,254,455 (GRCm39)		probably benign	Het
H2bc13	T	C	13: 21,900,088 (GRCm39)	S76G	probably benign	Het
Heatr1	T	C	13: 12,446,718 (GRCm39)	I1689T	probably benign	Het
Hephl1	A	G	9: 15,009,286 (GRCm39)	I102T	probably benign	Het
Hltf	T	G	3: 20,118,114 (GRCm39)	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,256,784 (GRCm39)	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,530,077 (GRCm39)	R16S	probably benign	Het
Il1rap	A	C	16: 26,513,984 (GRCm39)	D239A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,715,519 (GRCm39)	I457V	probably damaging	Het
Kctd17	T	A	15: 78,317,224 (GRCm39)	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,363,601 (GRCm39)	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,006,327 (GRCm39)	D1266G	probably benign	Het
Map3k2	G	T	18: 32,361,203 (GRCm39)	M554I	probably damaging	Het
Mst1r	T	A	9: 107,797,124 (GRCm39)	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400 (GRCm39)	I775T	probably damaging	Het
Mybl2	A	G	2: 162,916,683 (GRCm39)	K7E	probably damaging	Het
Nf1	T	C	11: 79,338,398 (GRCm39)	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,117,055 (GRCm39)	I260V	probably damaging	Het
Or13c7	A	T	4: 43,854,323 (GRCm39)	N5Y	probably benign	Het
Or9g4	A	C	2: 85,504,842 (GRCm39)	Y218D	probably damaging	Het
Or9s23	G	T	1: 92,501,207 (GRCm39)	A105S	possibly damaging	Het
Pabpc1l	C	T	2: 163,869,542 (GRCm39)	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,311,973 (GRCm39)	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,476,293 (GRCm39)	N531I	probably damaging	Het
Prdm10	A	G	9: 31,264,701 (GRCm39)	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297 (GRCm39)	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,730,644 (GRCm39)		probably null	Het
Rnf135	T	C	11: 80,087,775 (GRCm39)		probably null	Het
Rusf1	A	T	7: 127,887,374 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,005,951 (GRCm39)	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,494,581 (GRCm39)	T124S	probably benign	Het
Slc26a5	G	A	5: 22,042,992 (GRCm39)	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,588,822 (GRCm39)	F275S	possibly damaging	Het
Snx14	A	G	9: 88,276,495 (GRCm39)	S606P	probably damaging	Het
Sphkap	A	T	1: 83,255,805 (GRCm39)	I648K	possibly damaging	Het
Spon2	T	C	5: 33,371,904 (GRCm39)	T301A	probably damaging	Het
Srpra	C	T	9: 35,124,447 (GRCm39)	T48I	probably benign	Het
Taar9	G	A	10: 23,985,408 (GRCm39)	P9S	probably benign	Het
Tacc1	A	T	8: 25,672,405 (GRCm39)	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,617,376 (GRCm39)	S348P	possibly damaging	Het
Timd2	G	T	11: 46,578,008 (GRCm39)	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,842,857 (GRCm39)	E206V	probably damaging	Het
Tmt1a3	A	G	15: 100,232,889 (GRCm39)	M27V	probably benign	Het
Traf5	T	G	1: 191,729,765 (GRCm39)	T429P	probably benign	Het
Trav4-3	A	G	14: 53,836,615 (GRCm39)	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,457,895 (GRCm39)	M462T	probably benign	Het
Ube4a	T	C	9: 44,860,120 (GRCm39)	D314G	probably damaging	Het
Utp25	T	A	1: 192,796,116 (GRCm39)	Q50L	probably null	Het
Vmn2r58	G	T	7: 41,514,495 (GRCm39)	T158K	probably damaging	Het
Vmn2r68	C	A	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,325,658 (GRCm39)	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,273,395 (GRCm39)	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,768,546 (GRCm39)	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,066,186 (GRCm39)	D52E	probably damaging	Het

Other mutations in Tpi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01931:Tpi1	APN	6	124,789,603 (GRCm39)	missense	possibly damaging	0.88
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGCCTTTGCTAGACTCAG -3'
(R):5'- GGAAAACCTTCCTCGTGAGG -3'

Sequencing Primer
(F):5'- AGATACCTGCGATGACCTTG -3'
(R):5'- CCTCGTGAGGGCTTCTTGC -3'

Posted On

2016-02-04