Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Atp11b'

34533

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35812110 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 378 (M378K)

Ref Sequence

ENSEMBL: ENSMUSP00000142676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029257] [ENSMUST00000198599]

AlphaFold

Q6DFW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029257
AA Change: M578K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: M578K

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	21	90	2.4e-24	PFAM
Pfam:E1-E2_ATPase	95	369	5.4e-13	PFAM
Pfam:Hydrolase	401	757	1.5e-10	PFAM
Pfam:HAD	404	829	5.9e-20	PFAM
Pfam:Cation_ATPase	492	605	7.1e-13	PFAM
Pfam:PhoLip_ATPase_C	846	1099	1.5e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196965

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198599
AA Change: M378K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: M378K

Domain	Start	End	E-Value	Type
low complexity region	90	107	N/A	INTRINSIC
Pfam:Hydrolase	201	632	3e-17	PFAM
Pfam:HAD	204	629	4e-16	PFAM
Pfam:Hydrolase_like2	292	405	1.2e-13	PFAM
low complexity region	833	848	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200445

Meta Mutation Damage Score

0.9472

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,404 (GRCm38)	M252L	probably benign	Het
Abca6	A	G	11: 110,236,789 (GRCm38)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,827,409 (GRCm38)	E656D	probably benign	Het
Abhd4	T	C	14: 54,263,234 (GRCm38)	I160T	probably benign	Het
Aco2	T	C	15: 81,889,356 (GRCm38)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,554,144 (GRCm38)		probably benign	Het
Akap13	T	C	7: 75,736,604 (GRCm38)		probably benign	Het
Alpk3	A	T	7: 81,076,974 (GRCm38)	T136S	probably benign	Het
Ap1g1	G	T	8: 109,803,117 (GRCm38)	M56I	probably benign	Het
Arid2	C	T	15: 96,370,571 (GRCm38)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,629,095 (GRCm38)	F308L	probably damaging	Het
Ass1	A	T	2: 31,514,819 (GRCm38)	N371Y	probably damaging	Het
Atp1a3	T	C	7: 24,981,512 (GRCm38)		probably benign	Het
Blk	C	A	14: 63,380,804 (GRCm38)	A218S	probably benign	Het
C4b	T	A	17: 34,734,776 (GRCm38)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,575,907 (GRCm38)		probably benign	Het
Cdca2	C	A	14: 67,677,178 (GRCm38)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,778,308 (GRCm38)	V83L	probably damaging	Het
Cep290	A	T	10: 100,514,574 (GRCm38)	I677F	probably benign	Het
Clip1	A	T	5: 123,617,332 (GRCm38)		probably benign	Het
Col11a2	G	T	17: 34,064,803 (GRCm38)		probably benign	Het
Coro1c	A	T	5: 113,845,252 (GRCm38)	V405D	probably benign	Het
Crebrf	A	G	17: 26,739,594 (GRCm38)	T13A	probably benign	Het
Cspg4	A	G	9: 56,897,410 (GRCm38)	E1835G	probably damaging	Het
Cubn	T	C	2: 13,424,694 (GRCm38)	N1332S	probably benign	Het
Cubn	T	C	2: 13,440,514 (GRCm38)	T1014A	possibly damaging	Het
Cubn	A	T	2: 13,476,035 (GRCm38)		probably null	Het
Efnb1	T	C	X: 99,137,028 (GRCm38)		probably benign	Het
Elf2	G	T	3: 51,308,190 (GRCm38)	P33Q	probably damaging	Het
Fap	C	T	2: 62,503,402 (GRCm38)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,838,920 (GRCm38)		noncoding transcript	Het
Gm14139	G	A	2: 150,191,864 (GRCm38)	R35K	possibly damaging	Het
Gm7714	A	T	5: 88,282,371 (GRCm38)	H42L	possibly damaging	Het
Got2	T	C	8: 95,869,538 (GRCm38)	N318S	probably benign	Het
Guk1	A	T	11: 59,186,028 (GRCm38)	F76L	probably damaging	Het
H2-K1	A	T	17: 33,996,665 (GRCm38)		probably benign	Het
Helz2	C	A	2: 181,232,759 (GRCm38)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,298,239 (GRCm38)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,652,268 (GRCm38)		probably null	Het
Hsd11b2	T	A	8: 105,523,067 (GRCm38)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,658,203 (GRCm38)	M81K	probably damaging	Het
Kif11	A	G	19: 37,411,509 (GRCm38)	T815A	probably benign	Het
Kit	G	A	5: 75,620,921 (GRCm38)	V337I	probably benign	Het
Klf11	T	C	12: 24,653,583 (GRCm38)	S6P	probably damaging	Het
Klk13	T	C	7: 43,723,821 (GRCm38)	V193A	probably benign	Het
Krt73	T	A	15: 101,799,889 (GRCm38)		probably benign	Het
L1td1	T	A	4: 98,737,182 (GRCm38)	L538*	probably null	Het
Macf1	A	G	4: 123,432,779 (GRCm38)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,884,016 (GRCm38)	I900T	probably damaging	Het
Med16	A	T	10: 79,900,200 (GRCm38)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,785,436 (GRCm38)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,347,866 (GRCm38)	P1249R	probably benign	Het
Mx2	A	T	16: 97,556,095 (GRCm38)	I463L	probably benign	Het
Naaa	A	T	5: 92,265,135 (GRCm38)	N73K	probably damaging	Het
Nags	T	A	11: 102,147,945 (GRCm38)	L404Q	probably damaging	Het
Neb	A	G	2: 52,243,390 (GRCm38)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,472,985 (GRCm38)	E120G	probably damaging	Het
Olfr1276	A	C	2: 111,257,121 (GRCm38)	N2T	probably benign	Het
Olfr561	C	A	7: 102,774,869 (GRCm38)	S115*	probably null	Het
Olfr615	T	A	7: 103,560,622 (GRCm38)	Y48*	probably null	Het
Olfr643	T	C	7: 104,059,521 (GRCm38)	H27R	probably benign	Het
Olfr736	T	C	14: 50,393,079 (GRCm38)	S108P	probably damaging	Het
Pcnt	A	G	10: 76,392,580 (GRCm38)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,167,935 (GRCm38)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,743,671 (GRCm38)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,324,224 (GRCm38)		probably benign	Het
Prmt8	C	A	6: 127,711,808 (GRCm38)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,506,362 (GRCm38)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,728,150 (GRCm38)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,563,148 (GRCm38)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,262,847 (GRCm38)	T1330I	probably damaging	Het
Reep3	G	T	10: 67,021,796 (GRCm38)	T172N	probably benign	Het
Rfwd3	A	G	8: 111,294,023 (GRCm38)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,552 (GRCm38)	I121V	probably damaging	Het
Robo1	T	A	16: 72,664,170 (GRCm38)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,740,847 (GRCm38)		probably benign	Het
Rubcn	A	G	16: 32,847,946 (GRCm38)	V117A	probably benign	Het
Scamp1	T	G	13: 94,210,580 (GRCm38)	N192T	probably benign	Het
Scn8a	T	A	15: 101,018,364 (GRCm38)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,523,208 (GRCm38)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,334,591 (GRCm38)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,997,245 (GRCm38)		probably null	Het
Slc5a4b	T	C	10: 76,070,628 (GRCm38)	M386V	possibly damaging	Het
Smarca5	A	G	8: 80,704,700 (GRCm38)	F963L	probably benign	Het
Smchd1	A	T	17: 71,411,891 (GRCm38)	F828I	probably benign	Het
Stab2	G	T	10: 86,897,960 (GRCm38)	Q1333K	probably benign	Het
Svop	T	C	5: 114,038,539 (GRCm38)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,842,566 (GRCm38)	S271N	probably benign	Het
Tec	G	A	5: 72,783,738 (GRCm38)	P159S	probably benign	Het
Tec	T	C	5: 72,763,556 (GRCm38)		probably benign	Het
Tfip11	G	A	5: 112,335,655 (GRCm38)	M645I	probably benign	Het
Thap12	A	T	7: 98,715,281 (GRCm38)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,375,507 (GRCm38)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,343,745 (GRCm38)	Y227H	probably damaging	Het
Urah	G	A	7: 140,837,689 (GRCm38)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,522,854 (GRCm38)	E353K	probably damaging	Het
Zfp101	A	T	17: 33,380,978 (GRCm38)	H601Q	possibly damaging	Het

Other mutations in Atp11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp11b	APN	3	35,809,376 (GRCm38)	splice site	probably null
IGL00722:Atp11b	APN	3	35,819,935 (GRCm38)	missense	probably damaging	1.00
IGL00725:Atp11b	APN	3	35,827,073 (GRCm38)	missense	probably damaging	0.97
IGL01514:Atp11b	APN	3	35,836,981 (GRCm38)	missense	probably damaging	1.00
IGL01532:Atp11b	APN	3	35,849,502 (GRCm38)	nonsense	probably null
IGL01789:Atp11b	APN	3	35,789,592 (GRCm38)	missense	possibly damaging	0.81
IGL01915:Atp11b	APN	3	35,831,463 (GRCm38)	missense	probably damaging	1.00
IGL02009:Atp11b	APN	3	35,814,152 (GRCm38)	missense	probably benign	0.07
IGL02049:Atp11b	APN	3	35,800,493 (GRCm38)	missense	probably damaging	0.99
IGL02952:Atp11b	APN	3	35,828,695 (GRCm38)	missense	probably damaging	1.00
IGL02991:Atp11b	UTSW	3	35,826,991 (GRCm38)	missense	probably benign	0.00
R0044:Atp11b	UTSW	3	35,812,252 (GRCm38)	missense	probably damaging	0.99
R0538:Atp11b	UTSW	3	35,837,014 (GRCm38)	missense	probably damaging	1.00
R0541:Atp11b	UTSW	3	35,806,944 (GRCm38)	missense	probably damaging	0.99
R0653:Atp11b	UTSW	3	35,839,194 (GRCm38)	missense	probably damaging	0.99
R0790:Atp11b	UTSW	3	35,832,923 (GRCm38)	missense	probably damaging	1.00
R1083:Atp11b	UTSW	3	35,778,013 (GRCm38)	splice site	probably benign
R1371:Atp11b	UTSW	3	35,806,769 (GRCm38)	missense	probably damaging	0.97
R1458:Atp11b	UTSW	3	35,789,558 (GRCm38)	missense	probably damaging	1.00
R1875:Atp11b	UTSW	3	35,839,147 (GRCm38)	missense	probably damaging	1.00
R1921:Atp11b	UTSW	3	35,834,325 (GRCm38)	missense	probably damaging	1.00
R2008:Atp11b	UTSW	3	35,855,122 (GRCm38)	missense	probably damaging	0.97
R2065:Atp11b	UTSW	3	35,839,074 (GRCm38)	missense	probably damaging	1.00
R2112:Atp11b	UTSW	3	35,837,528 (GRCm38)	missense	probably damaging	1.00
R2228:Atp11b	UTSW	3	35,806,942 (GRCm38)	missense	probably damaging	1.00
R2270:Atp11b	UTSW	3	35,810,134 (GRCm38)	splice site	probably null
R2273:Atp11b	UTSW	3	35,828,613 (GRCm38)	missense	probably benign	0.04
R2439:Atp11b	UTSW	3	35,814,084 (GRCm38)	missense	possibly damaging	0.68
R2497:Atp11b	UTSW	3	35,855,145 (GRCm38)	missense	probably damaging	0.99
R4181:Atp11b	UTSW	3	35,800,565 (GRCm38)	missense	probably benign	0.19
R4181:Atp11b	UTSW	3	35,789,558 (GRCm38)	missense	probably damaging	1.00
R4714:Atp11b	UTSW	3	35,834,394 (GRCm38)	missense	probably benign	0.02
R4923:Atp11b	UTSW	3	35,835,379 (GRCm38)	critical splice donor site	probably null
R4937:Atp11b	UTSW	3	35,807,008 (GRCm38)	splice site	probably null
R5013:Atp11b	UTSW	3	35,834,383 (GRCm38)	missense	possibly damaging	0.66
R5058:Atp11b	UTSW	3	35,809,361 (GRCm38)	missense	probably benign	0.41
R5171:Atp11b	UTSW	3	35,832,937 (GRCm38)	missense	probably damaging	1.00
R5200:Atp11b	UTSW	3	35,837,007 (GRCm38)	missense	probably benign	0.21
R5465:Atp11b	UTSW	3	35,810,184 (GRCm38)	missense	probably benign	0.00
R5651:Atp11b	UTSW	3	35,855,140 (GRCm38)	missense	probably damaging	1.00
R5689:Atp11b	UTSW	3	35,834,352 (GRCm38)	missense	possibly damaging	0.67
R5718:Atp11b	UTSW	3	35,837,516 (GRCm38)	missense	probably benign	0.12
R5807:Atp11b	UTSW	3	35,812,279 (GRCm38)	missense	probably damaging	1.00
R5888:Atp11b	UTSW	3	35,837,547 (GRCm38)	missense	probably benign	0.15
R6059:Atp11b	UTSW	3	35,814,177 (GRCm38)	missense	possibly damaging	0.72
R6259:Atp11b	UTSW	3	35,806,901 (GRCm38)	missense	probably damaging	1.00
R6359:Atp11b	UTSW	3	35,778,061 (GRCm38)	missense	probably benign	0.04
R6367:Atp11b	UTSW	3	35,784,537 (GRCm38)	missense	probably damaging	1.00
R6577:Atp11b	UTSW	3	35,839,162 (GRCm38)	missense	probably damaging	0.99
R6818:Atp11b	UTSW	3	35,814,180 (GRCm38)	missense	possibly damaging	0.71
R7016:Atp11b	UTSW	3	35,841,036 (GRCm38)	missense	probably benign
R7178:Atp11b	UTSW	3	35,819,950 (GRCm38)	missense	probably benign	0.34
R7614:Atp11b	UTSW	3	35,810,110 (GRCm38)	splice site	probably null
R7729:Atp11b	UTSW	3	35,778,107 (GRCm38)	missense	probably damaging	0.97
R7910:Atp11b	UTSW	3	35,831,503 (GRCm38)	missense	possibly damaging	0.68
R7967:Atp11b	UTSW	3	35,841,043 (GRCm38)	missense	probably benign	0.03
R8085:Atp11b	UTSW	3	35,841,036 (GRCm38)	missense	probably benign
R8095:Atp11b	UTSW	3	35,834,416 (GRCm38)	missense	probably damaging	1.00
R8499:Atp11b	UTSW	3	35,810,705 (GRCm38)	missense	probably benign	0.01
R8672:Atp11b	UTSW	3	35,819,917 (GRCm38)	missense	probably benign	0.19
R9046:Atp11b	UTSW	3	35,798,591 (GRCm38)	splice site	probably benign
R9047:Atp11b	UTSW	3	35,806,889 (GRCm38)	missense	probably damaging	0.98
R9065:Atp11b	UTSW	3	35,832,982 (GRCm38)	critical splice donor site	probably null
R9713:Atp11b	UTSW	3	35,831,411 (GRCm38)	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35,849,472 (GRCm38)	missense	probably benign	0.25
R9761:Atp11b	UTSW	3	35,849,467 (GRCm38)	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35,849,458 (GRCm38)	nonsense	probably null
Z1088:Atp11b	UTSW	3	35,812,213 (GRCm38)	missense	probably damaging	1.00
Z1177:Atp11b	UTSW	3	35,806,854 (GRCm38)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCAAGTGACCCAAGGTCTGCAAAG -3'
(R):5'- GGCAGTATAAGCAACCAGAAGTCCC -3'

Sequencing Primer
(F):5'- CCCAAGGTCTGCAAAGTATATGG -3'
(R):5'- CCTTTAGCAAATAAAAGCTTCTCACC -3'

Posted On

2013-05-09