Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Atp11b'

391000

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35809361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 202 (E202G)

Ref Sequence

ENSEMBL: ENSMUSP00000142676 (fasta)

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

probably benign
Transcript: ENSMUST00000029257
AA Change: E402G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: E402G

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

probably benign
Transcript: ENSMUST00000198599
AA Change: E202G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: E202G

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

probably benign
Transcript: ENSMUST00000199892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200445

Meta Mutation Damage Score

0.2784

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Atp11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp11b	APN	3	35809376	splice site	probably null
IGL00722:Atp11b	APN	3	35819935	missense	probably damaging	1.00
IGL00725:Atp11b	APN	3	35827073	missense	probably damaging	0.97
IGL01514:Atp11b	APN	3	35836981	missense	probably damaging	1.00
IGL01532:Atp11b	APN	3	35849502	nonsense	probably null
IGL01789:Atp11b	APN	3	35789592	missense	possibly damaging	0.81
IGL01915:Atp11b	APN	3	35831463	missense	probably damaging	1.00
IGL02009:Atp11b	APN	3	35814152	missense	probably benign	0.07
IGL02049:Atp11b	APN	3	35800493	missense	probably damaging	0.99
IGL02952:Atp11b	APN	3	35828695	missense	probably damaging	1.00
IGL02991:Atp11b	UTSW	3	35826991	missense	probably benign	0.00
R0044:Atp11b	UTSW	3	35812252	missense	probably damaging	0.99
R0254:Atp11b	UTSW	3	35812110	missense	possibly damaging	0.82
R0538:Atp11b	UTSW	3	35837014	missense	probably damaging	1.00
R0541:Atp11b	UTSW	3	35806944	missense	probably damaging	0.99
R0653:Atp11b	UTSW	3	35839194	missense	probably damaging	0.99
R0790:Atp11b	UTSW	3	35832923	missense	probably damaging	1.00
R1083:Atp11b	UTSW	3	35778013	splice site	probably benign
R1371:Atp11b	UTSW	3	35806769	missense	probably damaging	0.97
R1458:Atp11b	UTSW	3	35789558	missense	probably damaging	1.00
R1875:Atp11b	UTSW	3	35839147	missense	probably damaging	1.00
R1921:Atp11b	UTSW	3	35834325	missense	probably damaging	1.00
R2008:Atp11b	UTSW	3	35855122	missense	probably damaging	0.97
R2065:Atp11b	UTSW	3	35839074	missense	probably damaging	1.00
R2112:Atp11b	UTSW	3	35837528	missense	probably damaging	1.00
R2228:Atp11b	UTSW	3	35806942	missense	probably damaging	1.00
R2270:Atp11b	UTSW	3	35810134	splice site	probably null
R2273:Atp11b	UTSW	3	35828613	missense	probably benign	0.04
R2439:Atp11b	UTSW	3	35814084	missense	possibly damaging	0.68
R2497:Atp11b	UTSW	3	35855145	missense	probably damaging	0.99
R4181:Atp11b	UTSW	3	35789558	missense	probably damaging	1.00
R4181:Atp11b	UTSW	3	35800565	missense	probably benign	0.19
R4714:Atp11b	UTSW	3	35834394	missense	probably benign	0.02
R4923:Atp11b	UTSW	3	35835379	critical splice donor site	probably null
R4937:Atp11b	UTSW	3	35807008	splice site	probably null
R5013:Atp11b	UTSW	3	35834383	missense	possibly damaging	0.66
R5171:Atp11b	UTSW	3	35832937	missense	probably damaging	1.00
R5200:Atp11b	UTSW	3	35837007	missense	probably benign	0.21
R5465:Atp11b	UTSW	3	35810184	missense	probably benign	0.00
R5651:Atp11b	UTSW	3	35855140	missense	probably damaging	1.00
R5689:Atp11b	UTSW	3	35834352	missense	possibly damaging	0.67
R5718:Atp11b	UTSW	3	35837516	missense	probably benign	0.12
R5807:Atp11b	UTSW	3	35812279	missense	probably damaging	1.00
R5888:Atp11b	UTSW	3	35837547	missense	probably benign	0.15
R6059:Atp11b	UTSW	3	35814177	missense	possibly damaging	0.72
R6259:Atp11b	UTSW	3	35806901	missense	probably damaging	1.00
R6359:Atp11b	UTSW	3	35778061	missense	probably benign	0.04
R6367:Atp11b	UTSW	3	35784537	missense	probably damaging	1.00
R6577:Atp11b	UTSW	3	35839162	missense	probably damaging	0.99
R6818:Atp11b	UTSW	3	35814180	missense	possibly damaging	0.71
R7016:Atp11b	UTSW	3	35841036	missense	probably benign
R7178:Atp11b	UTSW	3	35819950	missense	probably benign	0.34
R7614:Atp11b	UTSW	3	35810110	splice site	probably null
R7729:Atp11b	UTSW	3	35778107	missense	probably damaging	0.97
R7910:Atp11b	UTSW	3	35831503	missense	possibly damaging	0.68
R7967:Atp11b	UTSW	3	35841043	missense	probably benign	0.03
R8085:Atp11b	UTSW	3	35841036	missense	probably benign
R8095:Atp11b	UTSW	3	35834416	missense	probably damaging	1.00
R8499:Atp11b	UTSW	3	35810705	missense	probably benign	0.01
R8672:Atp11b	UTSW	3	35819917	missense	probably benign	0.19
R9046:Atp11b	UTSW	3	35798591	splice site	probably benign
R9047:Atp11b	UTSW	3	35806889	missense	probably damaging	0.98
R9065:Atp11b	UTSW	3	35832982	critical splice donor site	probably null
R9713:Atp11b	UTSW	3	35831411	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35849458	nonsense	probably null
R9761:Atp11b	UTSW	3	35849467	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35849472	missense	probably benign	0.25
Z1088:Atp11b	UTSW	3	35812213	missense	probably damaging	1.00
Z1177:Atp11b	UTSW	3	35806854	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AATCAGACCATCTTGGCCAGG -3'
(R):5'- TCACTTTCAGGACTGGTTCTAAG -3'

Sequencing Primer
(F):5'- CCATCTTGGCCAGGAGATAGAC -3'
(R):5'- CTTTCAGGACTGGTTCTAAGAGAAG -3'

Posted On

2016-06-06