Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Pi4kb'

31837

Institutional Source

Beutler Lab

Gene Symbol

Pi4kb

Ensembl Gene

ENSMUSG00000038861

Gene Name

phosphatidylinositol 4-kinase beta

Synonyms

Pik4cb, ESTM41

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94882042-94914154 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 94904115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000133297] [ENSMUST00000138209] [ENSMUST00000167008]

AlphaFold

Q8BKC8

Predicted Effect

probably benign
Transcript: ENSMUST00000072287

SMART Domains

Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
SCOP:d1e8xa1	140	231	5e-22	SMART
PI3Kc	545	799	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107251

SMART Domains

Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
low complexity region	10	31	N/A	INTRINSIC
SCOP:d1e8xa1	140	231	5e-22	SMART
PI3Kc	560	814	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125476

SMART Domains

Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
SCOP:d1e8xa1	152	243	5e-22	SMART
PI3Kc	572	826	6.47e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133297

SMART Domains

Protein: ENSMUSP00000123529
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
PI3Kc	1	225	7.13e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135483

Predicted Effect

probably benign
Transcript: ENSMUST00000138209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143287

Predicted Effect

probably benign
Transcript: ENSMUST00000167008

SMART Domains

Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861

Domain	Start	End	E-Value	Type
PI3Kc	228	482	6.47e-105	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	Het

Other mutations in Pi4kb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Pi4kb	APN	3	94,911,574 (GRCm39)	missense	probably damaging	1.00
IGL01559:Pi4kb	APN	3	94,891,440 (GRCm39)	missense	probably benign	0.00
IGL03003:Pi4kb	APN	3	94,892,123 (GRCm39)	missense	probably benign	0.00
IGL03087:Pi4kb	APN	3	94,892,075 (GRCm39)	missense	probably benign
R0014:Pi4kb	UTSW	3	94,906,208 (GRCm39)	missense	probably damaging	1.00
R0196:Pi4kb	UTSW	3	94,906,261 (GRCm39)	missense	probably damaging	1.00
R0387:Pi4kb	UTSW	3	94,892,051 (GRCm39)	missense	probably benign	0.42
R0394:Pi4kb	UTSW	3	94,904,116 (GRCm39)	intron	probably benign
R1485:Pi4kb	UTSW	3	94,901,698 (GRCm39)	missense	probably damaging	0.99
R3700:Pi4kb	UTSW	3	94,901,599 (GRCm39)	missense	probably benign	0.09
R4449:Pi4kb	UTSW	3	94,892,046 (GRCm39)	missense	probably benign	0.41
R4502:Pi4kb	UTSW	3	94,903,918 (GRCm39)	missense	probably benign	0.02
R4717:Pi4kb	UTSW	3	94,906,162 (GRCm39)	missense	probably damaging	1.00
R4737:Pi4kb	UTSW	3	94,911,649 (GRCm39)	missense	probably damaging	1.00
R4763:Pi4kb	UTSW	3	94,911,720 (GRCm39)	intron	probably benign
R5322:Pi4kb	UTSW	3	94,901,560 (GRCm39)	missense	probably benign	0.04
R5427:Pi4kb	UTSW	3	94,901,518 (GRCm39)	missense	probably benign	0.09
R5622:Pi4kb	UTSW	3	94,906,172 (GRCm39)	missense	possibly damaging	0.56
R5625:Pi4kb	UTSW	3	94,891,988 (GRCm39)	missense	probably benign	0.15
R5755:Pi4kb	UTSW	3	94,901,608 (GRCm39)	splice site	probably null
R5926:Pi4kb	UTSW	3	94,906,307 (GRCm39)	missense	probably damaging	1.00
R6904:Pi4kb	UTSW	3	94,900,461 (GRCm39)	missense	probably damaging	1.00
R6984:Pi4kb	UTSW	3	94,904,245 (GRCm39)	missense	probably damaging	1.00
R7221:Pi4kb	UTSW	3	94,901,500 (GRCm39)	missense	probably damaging	1.00
R7312:Pi4kb	UTSW	3	94,891,888 (GRCm39)	missense	probably benign	0.12
R7511:Pi4kb	UTSW	3	94,896,623 (GRCm39)	missense	probably benign	0.00
R7571:Pi4kb	UTSW	3	94,906,425 (GRCm39)	critical splice donor site	probably null
R7885:Pi4kb	UTSW	3	94,906,387 (GRCm39)	missense	probably damaging	1.00
R8327:Pi4kb	UTSW	3	94,906,192 (GRCm39)	missense	probably benign	0.02
R8331:Pi4kb	UTSW	3	94,903,995 (GRCm39)	missense	probably null	0.99
R8829:Pi4kb	UTSW	3	94,900,344 (GRCm39)	missense	probably damaging	0.99
R8832:Pi4kb	UTSW	3	94,900,344 (GRCm39)	missense	probably damaging	0.99
R9047:Pi4kb	UTSW	3	94,900,428 (GRCm39)	missense	probably damaging	1.00
R9255:Pi4kb	UTSW	3	94,906,219 (GRCm39)	missense	probably damaging	1.00
R9269:Pi4kb	UTSW	3	94,891,797 (GRCm39)	missense	probably damaging	1.00
R9326:Pi4kb	UTSW	3	94,900,506 (GRCm39)	critical splice donor site	probably null
Z1088:Pi4kb	UTSW	3	94,891,820 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGAGACCCTGAAGACCCTTCTG -3'
(R):5'- GGAGTTGCACTGAGCCTTTCCTTTC -3'

Sequencing Primer
(F):5'- CTTCTGCAGTTGCCCTCAAA -3'
(R):5'- TACGGGGAACCTTCTCTGAT -3'

Posted On

2013-04-24