Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Itpa'

690796

Institutional Source

Beutler Lab

Gene Symbol

Itpa

Ensembl Gene

ENSMUSG00000074797

Gene Name

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

Synonyms

Itp, 2010016I08Rik

MMRRC Submission

068907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130509530-130523534 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 130509857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089559] [ENSMUST00000103193] [ENSMUST00000135072]

AlphaFold

Q9D892

Predicted Effect

probably benign
Transcript: ENSMUST00000089559

SMART Domains

Protein: ENSMUSP00000086988
Gene: ENSMUSG00000068290

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
DDRGK	116	304	8.35e-113	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103193

SMART Domains

Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797

Domain	Start	End	E-Value	Type
Pfam:Ham1p_like	10	188	4.3e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135072

SMART Domains

Protein: ENSMUSP00000121190
Gene: ENSMUSG00000068290

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
coiled coil region	20	52	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality and complete postnatal lethality with postnatal growth retardation, abnormal heart morphology and function, ataxia, and immature hair follicles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,951 (GRCm39)	R118*	probably null	Het
Acadsb	T	C	7: 131,027,504 (GRCm39)	V68A	probably damaging	Het
Adgb	T	C	10: 10,318,432 (GRCm39)	R137G	probably benign	Het
Adgrl3	C	A	5: 81,808,291 (GRCm39)	N622K	possibly damaging	Het
Ager	C	A	17: 34,819,579 (GRCm39)	P366T	probably benign	Het
Barx2	C	A	9: 31,765,443 (GRCm39)	W184L	probably damaging	Het
Bckdha	A	C	7: 25,341,144 (GRCm39)	N72K	probably benign	Het
Blm	A	T	7: 80,162,867 (GRCm39)	D161E	probably damaging	Het
Ccdc121rt2	A	T	5: 112,598,757 (GRCm39)	R435W	probably damaging	Het
Cd96	G	T	16: 45,870,068 (GRCm39)	T467N	probably benign	Het
Cdk13	A	T	13: 17,978,444 (GRCm39)	S265T	unknown	Het
Col6a5	A	C	9: 105,766,142 (GRCm39)	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,097,983 (GRCm39)	V361D	probably damaging	Het
Cstf1	T	A	2: 172,217,807 (GRCm39)	M140K		Het
Ddx41	A	T	13: 55,683,424 (GRCm39)	S128T	probably benign	Het
Deaf1	A	T	7: 140,877,465 (GRCm39)	V554D	probably damaging	Het
Dido1	C	T	2: 180,303,293 (GRCm39)	S1537N	probably benign	Het
Dmwd	T	C	7: 18,811,980 (GRCm39)	S145P	probably damaging	Het
Eftud2	A	G	11: 102,759,971 (GRCm39)	S125P	probably benign	Het
Gga1	A	G	15: 78,773,952 (GRCm39)	D325G	probably damaging	Het
Gm43518	T	C	5: 124,072,329 (GRCm39)		probably null	Het
Got1l1	A	T	8: 27,690,889 (GRCm39)	V53E	probably damaging	Het
Helz2	A	T	2: 180,881,433 (GRCm39)	C350S	probably damaging	Het
Ipo7	T	A	7: 109,643,666 (GRCm39)	F398I	possibly damaging	Het
Itga11	A	G	9: 62,678,662 (GRCm39)	N943S	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kbtbd4	A	T	2: 90,737,909 (GRCm39)	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,535,506 (GRCm39)	F594L	probably damaging	Het
Klhdc4	C	T	8: 122,524,684 (GRCm39)	V446I	probably benign	Het
Klk1b1	A	G	7: 43,620,668 (GRCm39)	I253V	possibly damaging	Het
Kynu	T	A	2: 43,489,620 (GRCm39)	M135K	probably damaging	Het
Lgi1	T	C	19: 38,294,095 (GRCm39)	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,250,045 (GRCm39)	N288S	probably damaging	Het
Lrp6	G	C	6: 134,488,169 (GRCm39)	A309G	probably damaging	Het
Map2	T	A	1: 66,452,098 (GRCm39)	N329K	probably benign	Het
Med15	G	A	16: 17,473,421 (GRCm39)	P476L	unknown	Het
Muc16	A	T	9: 18,555,846 (GRCm39)	N3482K	unknown	Het
Nemf	A	C	12: 69,400,628 (GRCm39)	V149G	probably damaging	Het
Notch3	T	C	17: 32,370,521 (GRCm39)	S706G	probably benign	Het
Nphp4	T	C	4: 152,645,673 (GRCm39)	V1227A	possibly damaging	Het
Or1e31	A	G	11: 73,690,052 (GRCm39)	F177S	probably damaging	Het
Or2a52	A	T	6: 43,144,917 (GRCm39)	R308S	probably benign	Het
Or6c70	A	G	10: 129,710,488 (GRCm39)	L46P	probably damaging	Het
Parp2	A	G	14: 51,052,327 (GRCm39)	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,264 (GRCm39)	V555A	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,723,351 (GRCm39)	L1725R	probably damaging	Het
Reln	G	T	5: 22,130,198 (GRCm39)	D2704E	probably benign	Het
Sart3	C	A	5: 113,891,756 (GRCm39)	E405D	possibly damaging	Het
Scin	A	T	12: 40,131,703 (GRCm39)	L277*	probably null	Het
Sec62	T	A	3: 30,868,383 (GRCm39)	V204E	probably benign	Het
Serpina3a	T	C	12: 104,085,956 (GRCm39)	I137T	possibly damaging	Het
Sh3rf1	T	C	8: 61,825,613 (GRCm39)	M536T	probably benign	Het
Slc45a4	T	C	15: 73,457,953 (GRCm39)	H532R	probably damaging	Het
Svs5	A	G	2: 164,079,341 (GRCm39)	F189L	probably benign	Het
Synm	T	C	7: 67,408,766 (GRCm39)	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,147,215 (GRCm39)	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,201,929 (GRCm39)	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847 (GRCm39)	I85S	probably damaging	Het
Ush2a	T	A	1: 188,487,374 (GRCm39)	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,614,453 (GRCm39)	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884 (GRCm39)	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,296,742 (GRCm39)	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,725,292 (GRCm39)	D208V	probably damaging	Het
Zfp422	A	C	6: 116,604,086 (GRCm39)		probably benign	Het

Other mutations in Itpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Itpa	APN	2	130,514,019 (GRCm39)	missense	probably benign	0.14
IGL03202:Itpa	APN	2	130,509,859 (GRCm39)	unclassified	probably benign
R0110:Itpa	UTSW	2	130,521,338 (GRCm39)	splice site	probably benign
R3872:Itpa	UTSW	2	130,522,930 (GRCm39)	missense	probably damaging	1.00
R3873:Itpa	UTSW	2	130,522,930 (GRCm39)	missense	probably damaging	1.00
R3874:Itpa	UTSW	2	130,522,930 (GRCm39)	missense	probably damaging	1.00
R7768:Itpa	UTSW	2	130,509,836 (GRCm39)	missense	probably damaging	1.00
R8708:Itpa	UTSW	2	130,517,639 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGCTTCAGGCATCCGATAG -3'
(R):5'- TCAGACTAGCCTGGACTACAC -3'

Sequencing Primer
(F):5'- CGATAGGGCCGGAAACC -3'
(R):5'- AATTCCTCTGACCCTCAAGGCG -3'

Posted On

2021-12-30