Mutagenetix > Incidental Mutation

Incidental Mutation 'R7634:Tpi1'

589811

Institutional Source

Beutler Lab

Gene Symbol

Tpi1

Ensembl Gene

ENSMUSG00000023456

Gene Name

triosephosphate isomerase 1

Synonyms

Tpi-1

MMRRC Submission

045693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7634 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124787549-124791121 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 124789817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 109 (K109*)

Ref Sequence

ENSEMBL: ENSMUSP00000130858 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000172132
AA Change: K109*

SMART Domains

Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456
AA Change: K109*

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,969,102 (GRCm39)	M116L	probably benign	Het
Adam25	A	G	8: 41,207,883 (GRCm39)	D383G	probably benign	Het
Adam26b	T	A	8: 43,974,034 (GRCm39)	M323L	probably benign	Het
Adgrf3	T	C	5: 30,407,245 (GRCm39)	H227R	probably benign	Het
Antxr1	G	A	6: 87,114,273 (GRCm39)	T498I	probably benign	Het
Arg1	T	A	10: 24,791,627 (GRCm39)	T285S	possibly damaging	Het
Arhgdig	T	C	17: 26,418,365 (GRCm39)	D206G	probably damaging	Het
Asb10	C	A	5: 24,745,875 (GRCm39)	C17F	possibly damaging	Het
Atg2b	T	C	12: 105,618,379 (GRCm39)	D891G	probably damaging	Het
Cacna1h	A	T	17: 25,611,083 (GRCm39)	S572T	possibly damaging	Het
Cenpj	T	C	14: 56,780,257 (GRCm39)	T985A	probably benign	Het
Cfap65	G	T	1: 74,941,593 (GRCm39)	N1780K	probably damaging	Het
Cyp26c1	T	C	19: 37,681,447 (GRCm39)	Y417H	probably damaging	Het
Dnajb13	G	T	7: 100,152,393 (GRCm39)	Q308K	probably benign	Het
Fam107b	T	C	2: 3,771,777 (GRCm39)	S3P	possibly damaging	Het
Gm3127	A	G	14: 15,425,787 (GRCm39)	N64S	probably damaging	Het
Gm4847	A	C	1: 166,460,249 (GRCm39)	N412K	probably benign	Het
Gtf3c3	A	T	1: 54,458,800 (GRCm39)		probably null	Het
Guf1	T	C	5: 69,721,887 (GRCm39)	S349P	probably damaging	Het
Hvcn1	A	G	5: 122,371,586 (GRCm39)	Y42C	probably damaging	Het
Insm1	A	G	2: 146,065,027 (GRCm39)	Y281C	probably damaging	Het
Lrrc71	A	G	3: 87,650,281 (GRCm39)	I264T	probably damaging	Het
Lrriq1	T	C	10: 103,036,462 (GRCm39)	N897S	probably damaging	Het
Mtmr6	T	A	14: 60,533,596 (GRCm39)	F375I	probably damaging	Het
Mtor	G	C	4: 148,536,807 (GRCm39)	S27T	possibly damaging	Het
Mylk4	T	A	13: 32,892,891 (GRCm39)	K387N	possibly damaging	Het
Nadk2	T	G	15: 9,092,935 (GRCm39)	D247E	probably benign	Het
Nfya	T	C	17: 48,699,445 (GRCm39)	T213A	probably damaging	Het
Nlrp1a	A	G	11: 70,990,354 (GRCm39)	V1067A	probably benign	Het
Nrbp2	C	T	15: 75,959,257 (GRCm39)	R206Q	possibly damaging	Het
Oas2	A	G	5: 120,871,293 (GRCm39)	V722A	probably benign	Het
Odad4	G	A	11: 100,452,731 (GRCm39)		probably null	Het
Or4c108	G	T	2: 88,804,001 (GRCm39)	P78Q	probably damaging	Het
Pcdhb2	G	T	18: 37,428,000 (GRCm39)		probably benign	Het
Pdpr	T	A	8: 111,852,317 (GRCm39)	H561Q	probably damaging	Het
Plcz1	A	G	6: 139,961,853 (GRCm39)	F233L	probably damaging	Het
Ppp1r3d	A	G	2: 178,055,165 (GRCm39)	I279T	probably damaging	Het
Psg17	A	G	7: 18,548,416 (GRCm39)	Y452H	probably damaging	Het
Reg4	T	C	3: 98,140,428 (GRCm39)		probably null	Het
Rint1	A	G	5: 24,010,477 (GRCm39)	T229A	probably benign	Het
Robo1	T	G	16: 72,839,866 (GRCm39)		probably null	Het
Slc22a26	A	C	19: 7,779,952 (GRCm39)		probably null	Het
Slc22a7	C	T	17: 46,749,156 (GRCm39)	A54T	probably benign	Het
Slc52a3	C	A	2: 151,846,534 (GRCm39)	T165N	possibly damaging	Het
Slc7a11	C	T	3: 50,378,486 (GRCm39)		probably null	Het
Smap2	T	C	4: 120,873,996 (GRCm39)	N18S	probably benign	Het
Spag6l	T	C	16: 16,595,278 (GRCm39)	E369G	probably damaging	Het
Tars3	T	A	7: 65,325,760 (GRCm39)	Y445N	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmprss7	C	T	16: 45,483,637 (GRCm39)	G579D	probably benign	Het
Ttn	T	C	2: 76,628,856 (GRCm39)	E14466G	possibly damaging	Het
Usp40	A	T	1: 87,890,152 (GRCm39)	C903*	probably null	Het
Vinac1	T	A	2: 128,880,192 (GRCm39)	D578V		Het
Vmn2r104	T	A	17: 20,261,971 (GRCm39)	L386F	possibly damaging	Het
Vmn2r54	G	A	7: 12,349,630 (GRCm39)	P651S	probably damaging	Het
Wnk4	C	A	11: 101,153,721 (GRCm39)	T261K	probably damaging	Het
Wnt2b	T	C	3: 104,854,432 (GRCm39)	Y342C	probably damaging	Het
Zbtb8b	A	G	4: 129,326,755 (GRCm39)	Y137H	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
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
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'- CTAAGTCTTTGATCATGCCAGGG -3'
(R):5'- CTATCAGAGGCATTGGGAAGGC -3'

Sequencing Primer
(F):5'- CTTTGATCATGCCAGGGCTAAAAC -3'
(R):5'- CTGGTATTGCTACAGGCCTAGC -3'

Posted On

2019-10-24