Mutagenetix > Incidental Mutations

Incidental Mutation 'R1458:Atp11b'

161854

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

039513-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 35789558 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 185 (T185P)

Ref Sequence

ENSEMBL: ENSMUSP00000029257 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029257
AA Change: T185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: T185P

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

probably benign
Transcript: ENSMUST00000198599

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400

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

unknown
Transcript: ENSMUST00000199892
AA Change: T70P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200445

Meta Mutation Damage Score

0.1497

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,769,761		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,227,858		noncoding transcript	Het
Abce1	T	C	8: 79,707,235	K63R	possibly damaging	Het
Acp6	A	G	3: 97,173,788		probably benign	Het
Adamts13	T	A	2: 26,988,354	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,523,320	M497K	probably damaging	Het
Adgrb2	T	A	4: 130,014,591	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,353,693	S168C	probably damaging	Het
Akap3	A	T	6: 126,865,554	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,439,663	M135I	probably null	Het
Arhgef12	A	G	9: 42,988,998	S860P	probably damaging	Het
Bcas1	T	C	2: 170,387,951	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,717,872	S228T	probably damaging	Het
Cic	T	C	7: 25,279,737		probably benign	Het
Cmya5	T	A	13: 93,065,327	I3376L	probably benign	Het
Ctrc	C	A	4: 141,846,224		probably null	Het
D230025D16Rik	T	C	8: 105,246,556		probably null	Het
Dchs1	G	T	7: 105,755,244	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 131,044,487		probably benign	Het
Drd2	G	A	9: 49,402,212	R227H	probably damaging	Het
Dscc1	C	A	15: 55,086,764	C195F	probably damaging	Het
Dzip1	T	A	14: 118,922,713	M28L	probably benign	Het
Edar	A	T	10: 58,607,366	S313T	probably benign	Het
Eef1e1	C	A	13: 38,656,123	A69S	probably damaging	Het
Fbn1	A	G	2: 125,301,929	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,870,549		probably null	Het
Fgl1	C	G	8: 41,210,459	A11P	possibly damaging	Het
Fras1	T	C	5: 96,600,733	V689A	probably benign	Het
Fry	T	A	5: 150,380,859	D571E	probably damaging	Het
Gm11232	T	A	4: 71,757,213	R104*	probably null	Het
Gm1527	A	G	3: 28,918,050	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,783,892	G361*	probably null	Het
Gm7052	T	A	17: 22,040,466		probably benign	Het
Gm7534	T	C	4: 134,196,833	D467G	probably benign	Het
Gpatch8	A	T	11: 102,481,229	S494R	unknown	Het
Gria2	A	T	3: 80,732,045	V220E	possibly damaging	Het
Grik4	G	A	9: 42,521,122	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,707,729	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,215,036		probably benign	Het
Hist1h2ae	C	A	13: 23,571,047		probably benign	Het
Hmcn1	G	A	1: 150,609,700	R4384C	probably damaging	Het
Hspa12b	G	C	2: 131,145,192	A678P	probably damaging	Het
Igsf21	T	A	4: 140,028,124	N407Y	probably damaging	Het
Insig2	A	G	1: 121,307,156	Y174H	probably benign	Het
Itpr3	T	A	17: 27,118,372	M2413K	probably benign	Het
Kalrn	A	T	16: 34,174,487	I1322N	probably damaging	Het
Klk1b24	T	A	7: 44,191,466	M106K	possibly damaging	Het
Krt81	G	T	15: 101,460,317	Q352K	probably benign	Het
Lca5l	A	T	16: 96,159,859	S468T	possibly damaging	Het
Lvrn	T	C	18: 46,882,385		probably benign	Het
Mcpt1	T	A	14: 56,019,164		probably benign	Het
Med13l	T	C	5: 118,738,459	M900T	probably benign	Het
Med16	A	G	10: 79,907,478		probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mep1a	T	C	17: 43,491,672	H154R	probably damaging	Het
Mrc2	A	T	11: 105,337,772	D659V	probably benign	Het
Mroh8	T	A	2: 157,221,304	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,284,808	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,803,982		probably benign	Het
Myo1a	C	A	10: 127,719,937	Q932K	probably benign	Het
Nav3	A	C	10: 109,720,044	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,832,746	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,665,267		probably benign	Het
Odf3l2	A	T	10: 79,645,558		probably benign	Het
Olfr1362	C	T	13: 21,611,822	C49Y	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,676	E11V	probably null	Het
P4hb	A	G	11: 120,562,555		probably benign	Het
Papss1	T	G	3: 131,605,854	I281S	probably damaging	Het
Pde10a	A	T	17: 8,964,708	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,708,190	Y35N	possibly damaging	Het
Phf20l1	T	A	15: 66,604,813	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,516,115	V1046I	probably benign	Het
Plin3	C	T	17: 56,284,337	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,840,631		probably benign	Het
Ppp2r3a	A	G	9: 101,211,312	L604P	probably damaging	Het
Prdm5	T	C	6: 65,883,601	V239A	probably damaging	Het
Prickle1	A	G	15: 93,500,638	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,190,725	I155N	probably benign	Het
Prom1	T	C	5: 44,032,932		probably benign	Het
Psg25	C	T	7: 18,529,587	G104R	probably damaging	Het
Rbm19	T	C	5: 120,144,029	V817A	probably benign	Het
Ryr2	T	A	13: 11,727,022	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,300,932	T253A	probably benign	Het
Smg7	A	T	1: 152,855,843		probably null	Het
Spink5	C	A	18: 44,007,719	H662N	probably benign	Het
Taf2	A	T	15: 55,059,915	M322K	probably damaging	Het
Tmc2	T	C	2: 130,248,762	F676S	probably damaging	Het
Tmem177	A	G	1: 119,910,185	S255P	possibly damaging	Het
Trim46	A	T	3: 89,235,068		probably null	Het
Tubb1	T	A	2: 174,450,803		probably null	Het
Upf1	T	C	8: 70,344,254	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,848,984	I140L	probably benign	Het
Zfp638	T	A	6: 83,944,656	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,964,827	N101I	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
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
R5058:Atp11b	UTSW	3	35809361	missense	probably benign	0.41
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
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'- GACACTTGATTGCAAACAAGATCCCAAA -3'
(R):5'- TGCACATGCCAAGAGAAATACATGCATA -3'

Sequencing Primer
(F):5'- GATCCCAAACAAACAGGATTGCTG -3'
(R):5'- tcccataaaccacacagtagaag -3'

Posted On

2014-03-14