Mutagenetix > Incidental Mutation

Incidental Mutation 'R1315:Ppip5k1'

157517

Institutional Source

Beutler Lab

Gene Symbol

Ppip5k1

Ensembl Gene

ENSMUSG00000033526

Gene Name

diphosphoinositol pentakisphosphate kinase 1

Synonyms

B430315C20Rik, Hisppd2a

MMRRC Submission

039381-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R1315 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121141042-121185877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121142486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1301 (D1301G)

Ref Sequence

ENSEMBL: ENSMUSP00000106258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052029] [ENSMUST00000094639] [ENSMUST00000110625] [ENSMUST00000110626] [ENSMUST00000110627] [ENSMUST00000110628] [ENSMUST00000110639]

AlphaFold

A2ARP1

Predicted Effect

probably benign
Transcript: ENSMUST00000052029
AA Change: D1321G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000057632
Gene: ENSMUSG00000033526
AA Change: D1321G

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.8e-110	PFAM
low complexity region	1163	1181	N/A	INTRINSIC
coiled coil region	1402	1430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094639

SMART Domains

Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	286	538	2e-54	BLAST
SCOP:d1eq1a_	584	699	8e-5	SMART
low complexity region	743	755	N/A	INTRINSIC
low complexity region	820	833	N/A	INTRINSIC
low complexity region	852	867	N/A	INTRINSIC
low complexity region	897	911	N/A	INTRINSIC
low complexity region	1228	1239	N/A	INTRINSIC
low complexity region	1334	1344	N/A	INTRINSIC
low complexity region	1540	1555	N/A	INTRINSIC
coiled coil region	1573	1602	N/A	INTRINSIC
internal_repeat_1	1616	1726	7.66e-6	PROSPERO
coiled coil region	1747	1771	N/A	INTRINSIC
internal_repeat_1	1774	1888	7.66e-6	PROSPERO
low complexity region	2060	2084	N/A	INTRINSIC
low complexity region	2121	2133	N/A	INTRINSIC
low complexity region	2156	2169	N/A	INTRINSIC
low complexity region	2383	2396	N/A	INTRINSIC
low complexity region	2436	2460	N/A	INTRINSIC
low complexity region	2517	2541	N/A	INTRINSIC
low complexity region	2589	2600	N/A	INTRINSIC
low complexity region	2662	2682	N/A	INTRINSIC
low complexity region	2685	2704	N/A	INTRINSIC
low complexity region	2716	2728	N/A	INTRINSIC
low complexity region	2766	2790	N/A	INTRINSIC
low complexity region	2980	2988	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110625
AA Change: D1300G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106255
Gene: ENSMUSG00000033526
AA Change: D1300G

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110626
AA Change: D1321G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106256
Gene: ENSMUSG00000033526
AA Change: D1321G

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	1.1e-135	PFAM
low complexity region	1163	1181	N/A	INTRINSIC
coiled coil region	1402	1430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110627
AA Change: D1300G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106257
Gene: ENSMUSG00000033526
AA Change: D1300G

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	906	8.5e-110	PFAM
low complexity region	1142	1160	N/A	INTRINSIC
coiled coil region	1381	1409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110628
AA Change: D1301G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106258
Gene: ENSMUSG00000033526
AA Change: D1301G

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:3T99\|A	50	377	N/A	PDB
Pfam:His_Phos_2	390	886	3.9e-101	PFAM
low complexity region	1143	1161	N/A	INTRINSIC
coiled coil region	1382	1410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110639

SMART Domains

Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	48	300	3e-54	BLAST
SCOP:d1eq1a_	346	461	1e-4	SMART
low complexity region	505	517	N/A	INTRINSIC
low complexity region	582	595	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	659	673	N/A	INTRINSIC
low complexity region	990	1001	N/A	INTRINSIC
low complexity region	1096	1106	N/A	INTRINSIC
low complexity region	1302	1317	N/A	INTRINSIC
coiled coil region	1335	1364	N/A	INTRINSIC
internal_repeat_1	1378	1488	5.43e-6	PROSPERO
coiled coil region	1509	1533	N/A	INTRINSIC
internal_repeat_1	1536	1650	5.43e-6	PROSPERO
low complexity region	1822	1846	N/A	INTRINSIC
low complexity region	1883	1895	N/A	INTRINSIC
low complexity region	1918	1931	N/A	INTRINSIC
low complexity region	2145	2158	N/A	INTRINSIC
low complexity region	2198	2222	N/A	INTRINSIC
low complexity region	2279	2303	N/A	INTRINSIC
low complexity region	2351	2362	N/A	INTRINSIC
low complexity region	2424	2444	N/A	INTRINSIC
low complexity region	2447	2466	N/A	INTRINSIC
low complexity region	2478	2490	N/A	INTRINSIC
low complexity region	2528	2552	N/A	INTRINSIC
low complexity region	2742	2750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133283

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Ecd	A	G	14: 20,387,128 (GRCm39)	V202A	probably benign	Het
Golgb1	T	C	16: 36,735,262 (GRCm39)	M1503T	probably benign	Het
Kif23	G	A	9: 61,831,270 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,361,060 (GRCm39)	T1457I	probably damaging	Het
Or8k24	C	A	2: 86,216,518 (GRCm39)	M81I	possibly damaging	Het
Osbpl2	T	C	2: 179,790,395 (GRCm39)	L223P	probably damaging	Het
Rrp1b	T	C	17: 32,275,613 (GRCm39)	F387L	probably benign	Het
Sltm	T	C	9: 70,450,347 (GRCm39)	V49A	probably benign	Het
Spdl1	T	A	11: 34,704,234 (GRCm39)	K533M	unknown	Het
Wnt8b	T	C	19: 44,500,462 (GRCm39)	C350R	probably damaging	Het

Other mutations in Ppip5k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Ppip5k1	APN	2	121,177,839 (GRCm39)	missense	probably damaging	1.00
IGL01154:Ppip5k1	APN	2	121,173,660 (GRCm39)	missense	probably damaging	1.00
IGL01341:Ppip5k1	APN	2	121,173,691 (GRCm39)	nonsense	probably null
IGL01704:Ppip5k1	APN	2	121,142,555 (GRCm39)	missense	possibly damaging	0.74
IGL01949:Ppip5k1	APN	2	121,168,341 (GRCm39)	missense	probably benign
IGL02101:Ppip5k1	APN	2	121,162,089 (GRCm39)	missense	possibly damaging	0.84
IGL02499:Ppip5k1	APN	2	121,162,034 (GRCm39)	splice site	probably null
IGL02701:Ppip5k1	APN	2	121,147,130 (GRCm39)	splice site	probably null
IGL03188:Ppip5k1	APN	2	121,157,327 (GRCm39)	unclassified	probably benign
boca	UTSW	2	121,142,450 (GRCm39)	missense	probably damaging	0.96
lapidus	UTSW	2	121,167,944 (GRCm39)	missense	probably benign	0.29
Roca	UTSW	2	121,167,232 (GRCm39)	missense	probably damaging	0.98
R0363:Ppip5k1	UTSW	2	121,177,836 (GRCm39)	missense	probably damaging	1.00
R1664:Ppip5k1	UTSW	2	121,167,663 (GRCm39)	missense	probably benign	0.02
R1753:Ppip5k1	UTSW	2	121,173,112 (GRCm39)	missense	probably damaging	1.00
R1759:Ppip5k1	UTSW	2	121,181,067 (GRCm39)	missense	probably benign	0.32
R1763:Ppip5k1	UTSW	2	121,179,028 (GRCm39)	missense	probably damaging	1.00
R2033:Ppip5k1	UTSW	2	121,168,108 (GRCm39)	missense	probably damaging	1.00
R2037:Ppip5k1	UTSW	2	121,173,674 (GRCm39)	missense	probably damaging	1.00
R2066:Ppip5k1	UTSW	2	121,173,352 (GRCm39)	unclassified	probably benign
R2103:Ppip5k1	UTSW	2	121,152,134 (GRCm39)	splice site	probably null
R3414:Ppip5k1	UTSW	2	121,158,142 (GRCm39)	missense	probably damaging	0.97
R4022:Ppip5k1	UTSW	2	121,168,108 (GRCm39)	missense	probably damaging	1.00
R4569:Ppip5k1	UTSW	2	121,174,044 (GRCm39)	missense	possibly damaging	0.69
R4783:Ppip5k1	UTSW	2	121,171,329 (GRCm39)	missense	possibly damaging	0.95
R4843:Ppip5k1	UTSW	2	121,157,368 (GRCm39)	missense	probably damaging	1.00
R4981:Ppip5k1	UTSW	2	121,142,871 (GRCm39)	missense	probably damaging	1.00
R5353:Ppip5k1	UTSW	2	121,142,201 (GRCm39)	missense	probably benign	0.00
R5493:Ppip5k1	UTSW	2	121,167,253 (GRCm39)	missense	probably damaging	1.00
R5654:Ppip5k1	UTSW	2	121,147,157 (GRCm39)	missense	probably benign	0.00
R5835:Ppip5k1	UTSW	2	121,168,380 (GRCm39)	missense	probably benign	0.01
R5987:Ppip5k1	UTSW	2	121,180,972 (GRCm39)	nonsense	probably null
R6076:Ppip5k1	UTSW	2	121,167,591 (GRCm39)	missense	probably null	1.00
R6088:Ppip5k1	UTSW	2	121,167,944 (GRCm39)	missense	probably benign	0.29
R6276:Ppip5k1	UTSW	2	121,153,684 (GRCm39)	unclassified	probably benign
R6555:Ppip5k1	UTSW	2	121,168,093 (GRCm39)	missense	probably damaging	0.99
R6878:Ppip5k1	UTSW	2	121,142,417 (GRCm39)	missense	probably benign	0.00
R7075:Ppip5k1	UTSW	2	121,152,231 (GRCm39)	missense	probably damaging	1.00
R7251:Ppip5k1	UTSW	2	121,178,052 (GRCm39)	missense	probably benign	0.05
R7332:Ppip5k1	UTSW	2	121,142,450 (GRCm39)	missense	probably damaging	0.96
R7359:Ppip5k1	UTSW	2	121,171,329 (GRCm39)	missense	possibly damaging	0.95
R7462:Ppip5k1	UTSW	2	121,167,232 (GRCm39)	missense	probably damaging	0.98
R7568:Ppip5k1	UTSW	2	121,168,096 (GRCm39)	missense	probably damaging	1.00
R7654:Ppip5k1	UTSW	2	121,179,040 (GRCm39)	missense	probably damaging	1.00
R7678:Ppip5k1	UTSW	2	121,168,142 (GRCm39)	missense	probably damaging	1.00
R7841:Ppip5k1	UTSW	2	121,173,276 (GRCm39)	missense	probably benign	0.13
R7877:Ppip5k1	UTSW	2	121,147,235 (GRCm39)	missense	probably benign	0.01
R7896:Ppip5k1	UTSW	2	121,177,811 (GRCm39)	missense	probably damaging	1.00
R7901:Ppip5k1	UTSW	2	121,142,390 (GRCm39)	missense	probably damaging	0.99
R7911:Ppip5k1	UTSW	2	121,173,139 (GRCm39)	missense	possibly damaging	0.89
R8167:Ppip5k1	UTSW	2	121,173,282 (GRCm39)	nonsense	probably null
R8179:Ppip5k1	UTSW	2	121,172,095 (GRCm39)	critical splice donor site	probably null
R8766:Ppip5k1	UTSW	2	121,166,919 (GRCm39)	nonsense	probably null
R8954:Ppip5k1	UTSW	2	121,153,701 (GRCm39)	unclassified	probably benign
R8981:Ppip5k1	UTSW	2	121,158,121 (GRCm39)	unclassified	probably benign
R9127:Ppip5k1	UTSW	2	121,158,125 (GRCm39)	critical splice donor site	probably null
R9165:Ppip5k1	UTSW	2	121,162,045 (GRCm39)	missense	probably damaging	1.00
R9244:Ppip5k1	UTSW	2	121,164,932 (GRCm39)	missense	probably benign	0.30
R9338:Ppip5k1	UTSW	2	121,153,827 (GRCm39)	missense
R9662:Ppip5k1	UTSW	2	121,174,054 (GRCm39)	missense	probably benign	0.15
X0020:Ppip5k1	UTSW	2	121,172,136 (GRCm39)	missense	probably damaging	0.99
Z1176:Ppip5k1	UTSW	2	121,168,347 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGTCACATGGTGCTAGTGGAGG -3'
(R):5'- GAAGTCAGGGTGTTACCAAGGTCAG -3'

Sequencing Primer
(F):5'- CTTGAGATAGCTCACTGATGGC -3'
(R):5'- TGTTACCAAGGTCAGCCAGAC -3'

Posted On

2014-02-18