Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Itpk1'

77842

Institutional Source

Beutler Lab

Gene Symbol

Itpk1

Ensembl Gene

ENSMUSG00000057963

Gene Name

inositol 1,3,4-triphosphate 5/6 kinase

Synonyms

MMRRC Submission

039014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R0835 (G1)

Quality Score

104

Status

Not validated

Chromosome

Chromosomal Location

102534842-102671128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102641707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 39 (V39M)

Ref Sequence

ENSEMBL: ENSMUSP00000137275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046518] [ENSMUST00000178697] [ENSMUST00000179210]

AlphaFold

Q8BYN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046518
AA Change: V39M

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: V39M

Domain	Start	End	E-Value	Type
Pfam:Ins134_P3_kin	1	318	2.8e-142	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178129

Predicted Effect

probably damaging
Transcript: ENSMUST00000178697
AA Change: V39M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963
AA Change: V39M

Domain	Start	End	E-Value	Type
Pfam:Ins134_P3_kin	1	48	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179210

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

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 that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
PHENOTYPE: Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,855,036 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,065,007 (GRCm39)	T555A	probably benign	Het
Abca4	A	T	3: 121,919,862 (GRCm39)	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,779,251 (GRCm39)	T99N	probably damaging	Het
Acan	A	T	7: 78,763,980 (GRCm39)	S2119C	probably damaging	Het
Adgre4	G	A	17: 56,106,637 (GRCm39)	C292Y	probably damaging	Het
Alk	A	G	17: 72,176,837 (GRCm39)	F1489S	probably damaging	Het
Ampd2	A	G	3: 107,983,818 (GRCm39)	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,882,448 (GRCm39)	F130S	probably damaging	Het
Bbs2	A	T	8: 94,801,887 (GRCm39)	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,517 (GRCm39)	H76R	probably benign	Het
Cdc14a	G	T	3: 116,122,171 (GRCm39)	N216K	probably benign	Het
Cep126	T	C	9: 8,130,224 (GRCm39)	Y69C	probably damaging	Het
Cep135	A	T	5: 76,763,553 (GRCm39)	R514S	probably benign	Het
Cfi	A	T	3: 129,662,191 (GRCm39)	Y390F	probably damaging	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Clptm1	A	G	7: 19,369,599 (GRCm39)	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,333,119 (GRCm39)	N422S	possibly damaging	Het
Coro7	T	C	16: 4,450,118 (GRCm39)	E577G	probably benign	Het
Crh	G	A	3: 19,748,528 (GRCm39)	P38L	probably benign	Het
Ctif	T	A	18: 75,568,407 (GRCm39)	D577V	probably damaging	Het
Deup1	T	A	9: 15,511,047 (GRCm39)	Q244L	probably damaging	Het
Dhx16	A	G	17: 36,192,581 (GRCm39)	E171G	probably damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,081,316 (GRCm39)	L508F	probably damaging	Het
Dync2h1	T	A	9: 7,116,642 (GRCm39)		probably null	Het
E2f4	C	T	8: 106,027,140 (GRCm39)	Q235*	probably null	Het
Eif2b3	A	G	4: 116,916,002 (GRCm39)	H203R	probably damaging	Het
Epha5	A	T	5: 84,534,101 (GRCm39)	W77R	probably damaging	Het
Gpx6	C	T	13: 21,501,238 (GRCm39)	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,765,649 (GRCm39)	V300E	probably damaging	Het
Gspt1	A	C	16: 11,056,802 (GRCm39)	S198A	probably benign	Het
Ift70a2	T	C	2: 75,808,494 (GRCm39)	N6S	probably benign	Het
Kremen2	G	T	17: 23,961,811 (GRCm39)	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,257,320 (GRCm39)	T74K	probably benign	Het
Mbtd1	T	A	11: 93,822,665 (GRCm39)	F492I	probably benign	Het
Mroh1	G	T	15: 76,336,083 (GRCm39)	V1486F	probably damaging	Het
Myg1	G	A	15: 102,240,537 (GRCm39)	V76M	probably damaging	Het
Myo16	G	T	8: 10,322,766 (GRCm39)	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,838,790 (GRCm39)	E487G	probably damaging	Het
Ncoa5	T	C	2: 164,844,714 (GRCm39)	E332G	probably damaging	Het
Nek6	T	A	2: 38,459,643 (GRCm39)	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,957,473 (GRCm39)	R268S	probably damaging	Het
Or4c11	T	C	2: 88,695,345 (GRCm39)	V132A	probably benign	Het
Or9a7	T	C	6: 40,521,272 (GRCm39)	I214V	probably benign	Het
Palm3	T	G	8: 84,754,776 (GRCm39)	S141A	probably benign	Het
Pbrm1	T	C	14: 30,789,536 (GRCm39)	F728L	probably damaging	Het
Phf3	A	G	1: 30,869,632 (GRCm39)	V472A	probably benign	Het
Plekha5	T	A	6: 140,514,576 (GRCm39)	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp6r2	G	A	15: 89,152,785 (GRCm39)	E309K	possibly damaging	Het
Ptpn6	T	A	6: 124,704,499 (GRCm39)		probably null	Het
Rasgrf1	T	C	9: 89,882,824 (GRCm39)	V882A	probably benign	Het
Ryr3	T	G	2: 112,480,483 (GRCm39)	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,835,958 (GRCm39)	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,831,318 (GRCm39)	M369I	probably benign	Het
Sox10	A	T	15: 79,040,641 (GRCm39)	Y300N	probably damaging	Het
Speg	T	C	1: 75,352,318 (GRCm39)	F79L	probably benign	Het
Sult1b1	T	A	5: 87,665,311 (GRCm39)	I208L	probably benign	Het
Syt9	A	G	7: 107,105,737 (GRCm39)	N460S	probably benign	Het
Tecpr1	T	A	5: 144,149,410 (GRCm39)	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Ttn	T	C	2: 76,725,105 (GRCm39)		probably benign	Het
Upk3bl	G	T	5: 136,086,185 (GRCm39)	R40S	probably benign	Het
Usp28	T	C	9: 48,912,824 (GRCm39)	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,177,583 (GRCm39)	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,712,246 (GRCm39)		probably null	Het
Wdr36	A	T	18: 32,982,135 (GRCm39)	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,421,978 (GRCm39)	F228S	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Zan	T	G	5: 137,406,659 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,942,559 (GRCm39)	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,041,266 (GRCm39)	S61T	probably benign	Het
Zfyve9	T	C	4: 108,575,866 (GRCm39)	D405G	probably damaging	Het

Other mutations in Itpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Itpk1	APN	12	102,572,362 (GRCm39)	missense	probably damaging	1.00
IGL02247:Itpk1	APN	12	102,589,668 (GRCm39)	missense	probably damaging	1.00
IGL02998:Itpk1	APN	12	102,545,398 (GRCm39)	missense	probably damaging	1.00
ANU23:Itpk1	UTSW	12	102,572,362 (GRCm39)	missense	probably damaging	1.00
R0432:Itpk1	UTSW	12	102,572,337 (GRCm39)	splice site	probably benign
R0622:Itpk1	UTSW	12	102,540,239 (GRCm39)	missense	probably damaging	1.00
R0659:Itpk1	UTSW	12	102,572,337 (GRCm39)	splice site	probably benign
R1171:Itpk1	UTSW	12	102,572,378 (GRCm39)	missense	probably damaging	1.00
R1812:Itpk1	UTSW	12	102,540,317 (GRCm39)	missense	probably benign	0.01
R1968:Itpk1	UTSW	12	102,641,729 (GRCm39)	splice site	probably null
R2277:Itpk1	UTSW	12	102,536,519 (GRCm39)	missense	probably benign
R2926:Itpk1	UTSW	12	102,545,389 (GRCm39)	missense	probably damaging	1.00
R4584:Itpk1	UTSW	12	102,536,416 (GRCm39)	missense	possibly damaging	0.89
R4690:Itpk1	UTSW	12	102,572,434 (GRCm39)	missense	probably damaging	0.96
R5050:Itpk1	UTSW	12	102,671,069 (GRCm39)	missense	probably damaging	1.00
R5326:Itpk1	UTSW	12	102,540,225 (GRCm39)	missense	possibly damaging	0.49
R5801:Itpk1	UTSW	12	102,540,204 (GRCm39)	missense	probably damaging	1.00
R5945:Itpk1	UTSW	12	102,554,812 (GRCm39)	missense	probably damaging	0.97
R7262:Itpk1	UTSW	12	102,641,712 (GRCm39)	missense	possibly damaging	0.89
R7421:Itpk1	UTSW	12	102,540,324 (GRCm39)	missense	possibly damaging	0.92
R7883:Itpk1	UTSW	12	102,572,434 (GRCm39)	missense	probably benign	0.35
R8438:Itpk1	UTSW	12	102,572,418 (GRCm39)	start gained	probably benign
R8886:Itpk1	UTSW	12	102,550,604 (GRCm39)	unclassified	probably benign
R8947:Itpk1	UTSW	12	102,536,582 (GRCm39)	missense	probably benign	0.10
R9137:Itpk1	UTSW	12	102,540,291 (GRCm39)	missense	probably benign	0.00
R9716:Itpk1	UTSW	12	102,572,347 (GRCm39)	critical splice donor site	probably null
X0058:Itpk1	UTSW	12	102,540,283 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAGCTATGTCAGATCTCCAGGC -3'
(R):5'- CCAGAAACCAGGACAGAGTGTTCAG -3'

Sequencing Primer
(F):5'- CGAGGGGGAGTATCACAATCC -3'
(R):5'- ATAGTTGCTGCCAGCTCTACAG -3'

Posted On

2013-10-16