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: 0.216) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35808255-35910425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35866259 bp (GRCm39)

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: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,552,406 (GRCm39)		probably benign	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Ap1g1	G	T	8: 110,529,749 (GRCm39)	M56I	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp1a3	T	C	7: 24,680,937 (GRCm39)		probably benign	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Fap	C	T	2: 62,333,746 (GRCm39)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,705,113 (GRCm39)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,906,462 (GRCm39)	M386V	possibly damaging	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	possibly damaging	Het

Other mutations in Atp11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp11b	APN	3	35,863,525 (GRCm39)	splice site	probably null
IGL00722:Atp11b	APN	3	35,874,084 (GRCm39)	missense	probably damaging	1.00
IGL00725:Atp11b	APN	3	35,881,222 (GRCm39)	missense	probably damaging	0.97
IGL01514:Atp11b	APN	3	35,891,130 (GRCm39)	missense	probably damaging	1.00
IGL01532:Atp11b	APN	3	35,903,651 (GRCm39)	nonsense	probably null
IGL01789:Atp11b	APN	3	35,843,741 (GRCm39)	missense	possibly damaging	0.81
IGL01915:Atp11b	APN	3	35,885,612 (GRCm39)	missense	probably damaging	1.00
IGL02009:Atp11b	APN	3	35,868,301 (GRCm39)	missense	probably benign	0.07
IGL02049:Atp11b	APN	3	35,854,642 (GRCm39)	missense	probably damaging	0.99
IGL02952:Atp11b	APN	3	35,882,844 (GRCm39)	missense	probably damaging	1.00
IGL02991:Atp11b	UTSW	3	35,881,140 (GRCm39)	missense	probably benign	0.00
R0044:Atp11b	UTSW	3	35,866,401 (GRCm39)	missense	probably damaging	0.99
R0538:Atp11b	UTSW	3	35,891,163 (GRCm39)	missense	probably damaging	1.00
R0541:Atp11b	UTSW	3	35,861,093 (GRCm39)	missense	probably damaging	0.99
R0653:Atp11b	UTSW	3	35,893,343 (GRCm39)	missense	probably damaging	0.99
R0790:Atp11b	UTSW	3	35,887,072 (GRCm39)	missense	probably damaging	1.00
R1083:Atp11b	UTSW	3	35,832,162 (GRCm39)	splice site	probably benign
R1371:Atp11b	UTSW	3	35,860,918 (GRCm39)	missense	probably damaging	0.97
R1458:Atp11b	UTSW	3	35,843,707 (GRCm39)	missense	probably damaging	1.00
R1875:Atp11b	UTSW	3	35,893,296 (GRCm39)	missense	probably damaging	1.00
R1921:Atp11b	UTSW	3	35,888,474 (GRCm39)	missense	probably damaging	1.00
R2008:Atp11b	UTSW	3	35,909,271 (GRCm39)	missense	probably damaging	0.97
R2065:Atp11b	UTSW	3	35,893,223 (GRCm39)	missense	probably damaging	1.00
R2112:Atp11b	UTSW	3	35,891,677 (GRCm39)	missense	probably damaging	1.00
R2228:Atp11b	UTSW	3	35,861,091 (GRCm39)	missense	probably damaging	1.00
R2270:Atp11b	UTSW	3	35,864,283 (GRCm39)	splice site	probably null
R2273:Atp11b	UTSW	3	35,882,762 (GRCm39)	missense	probably benign	0.04
R2439:Atp11b	UTSW	3	35,868,233 (GRCm39)	missense	possibly damaging	0.68
R2497:Atp11b	UTSW	3	35,909,294 (GRCm39)	missense	probably damaging	0.99
R4181:Atp11b	UTSW	3	35,854,714 (GRCm39)	missense	probably benign	0.19
R4181:Atp11b	UTSW	3	35,843,707 (GRCm39)	missense	probably damaging	1.00
R4714:Atp11b	UTSW	3	35,888,543 (GRCm39)	missense	probably benign	0.02
R4923:Atp11b	UTSW	3	35,889,528 (GRCm39)	critical splice donor site	probably null
R4937:Atp11b	UTSW	3	35,861,157 (GRCm39)	splice site	probably null
R5013:Atp11b	UTSW	3	35,888,532 (GRCm39)	missense	possibly damaging	0.66
R5058:Atp11b	UTSW	3	35,863,510 (GRCm39)	missense	probably benign	0.41
R5171:Atp11b	UTSW	3	35,887,086 (GRCm39)	missense	probably damaging	1.00
R5200:Atp11b	UTSW	3	35,891,156 (GRCm39)	missense	probably benign	0.21
R5465:Atp11b	UTSW	3	35,864,333 (GRCm39)	missense	probably benign	0.00
R5651:Atp11b	UTSW	3	35,909,289 (GRCm39)	missense	probably damaging	1.00
R5689:Atp11b	UTSW	3	35,888,501 (GRCm39)	missense	possibly damaging	0.67
R5718:Atp11b	UTSW	3	35,891,665 (GRCm39)	missense	probably benign	0.12
R5807:Atp11b	UTSW	3	35,866,428 (GRCm39)	missense	probably damaging	1.00
R5888:Atp11b	UTSW	3	35,891,696 (GRCm39)	missense	probably benign	0.15
R6059:Atp11b	UTSW	3	35,868,326 (GRCm39)	missense	possibly damaging	0.72
R6259:Atp11b	UTSW	3	35,861,050 (GRCm39)	missense	probably damaging	1.00
R6359:Atp11b	UTSW	3	35,832,210 (GRCm39)	missense	probably benign	0.04
R6367:Atp11b	UTSW	3	35,838,686 (GRCm39)	missense	probably damaging	1.00
R6577:Atp11b	UTSW	3	35,893,311 (GRCm39)	missense	probably damaging	0.99
R6818:Atp11b	UTSW	3	35,868,329 (GRCm39)	missense	possibly damaging	0.71
R7016:Atp11b	UTSW	3	35,895,185 (GRCm39)	missense	probably benign
R7178:Atp11b	UTSW	3	35,874,099 (GRCm39)	missense	probably benign	0.34
R7614:Atp11b	UTSW	3	35,864,259 (GRCm39)	splice site	probably null
R7729:Atp11b	UTSW	3	35,832,256 (GRCm39)	missense	probably damaging	0.97
R7910:Atp11b	UTSW	3	35,885,652 (GRCm39)	missense	possibly damaging	0.68
R7967:Atp11b	UTSW	3	35,895,192 (GRCm39)	missense	probably benign	0.03
R8085:Atp11b	UTSW	3	35,895,185 (GRCm39)	missense	probably benign
R8095:Atp11b	UTSW	3	35,888,565 (GRCm39)	missense	probably damaging	1.00
R8499:Atp11b	UTSW	3	35,864,854 (GRCm39)	missense	probably benign	0.01
R8672:Atp11b	UTSW	3	35,874,066 (GRCm39)	missense	probably benign	0.19
R9046:Atp11b	UTSW	3	35,852,740 (GRCm39)	splice site	probably benign
R9047:Atp11b	UTSW	3	35,861,038 (GRCm39)	missense	probably damaging	0.98
R9065:Atp11b	UTSW	3	35,887,131 (GRCm39)	critical splice donor site	probably null
R9713:Atp11b	UTSW	3	35,885,560 (GRCm39)	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35,903,621 (GRCm39)	missense	probably benign	0.25
R9761:Atp11b	UTSW	3	35,903,616 (GRCm39)	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35,903,607 (GRCm39)	nonsense	probably null
Z1088:Atp11b	UTSW	3	35,866,362 (GRCm39)	missense	probably damaging	1.00
Z1177:Atp11b	UTSW	3	35,861,003 (GRCm39)	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