Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Atp11b'

219167

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

040017-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35855122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1155 (D1155G)

Ref Sequence

ENSEMBL: ENSMUSP00000029257 (fasta)

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029257
AA Change: D1155G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: D1155G

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: ENSMUST00000196409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196700

Predicted Effect

unknown
Transcript: ENSMUST00000197764
AA Change: D103G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	C	T	5: 98,737,702	T156I	possibly damaging	Het
1700061G19Rik	A	G	17: 56,886,478	N608S	probably benign	Het
2510039O18Rik	T	A	4: 147,941,577	C185S	probably benign	Het
Actl6b	T	A	5: 137,569,330	S409T	probably damaging	Het
Adgrf2	T	C	17: 42,710,122	T604A	probably damaging	Het
Adprhl2	T	A	4: 126,317,344	D260V	probably benign	Het
Akap9	A	G	5: 3,960,131	E296G	possibly damaging	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,905,897	W236R	probably damaging	Het
Atp2c1	T	A	9: 105,432,726	T551S	probably benign	Het
Atp7b	A	T	8: 22,027,980	C281S	probably damaging	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,734,976		probably null	Het
Capn9	T	G	8: 124,591,685	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 122,643,293	V147A	probably damaging	Het
Ccdc83	T	A	7: 90,244,141	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,476	R357L	possibly damaging	Het
Celf1	A	T	2: 91,010,408	N367I	probably damaging	Het
Cep350	T	C	1: 155,914,721	I1363V	probably benign	Het
Colec12	T	A	18: 9,874,813	D696E	probably benign	Het
Ctbp1	C	T	5: 33,250,986	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,525,392	I293T	probably damaging	Het
D430042O09Rik	C	G	7: 125,860,566	H1189D	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dctn1	C	T	6: 83,189,956	T263I	probably damaging	Het
Ddx49	A	T	8: 70,295,444	V317E	probably damaging	Het
Edil3	G	A	13: 88,944,953		probably null	Het
Egflam	A	T	15: 7,237,804	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,819,865		probably null	Het
Gigyf2	T	G	1: 87,374,113		probably null	Het
Gm5346	A	T	8: 43,627,037	V50D	probably benign	Het
Heatr4	A	G	12: 83,979,740	S248P	probably benign	Het
Hist1h1c	C	G	13: 23,739,409	S187R	probably benign	Het
Hoxd1	A	T	2: 74,764,180	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,092	L305Q	probably damaging	Het
Itch	T	A	2: 155,210,459	C660S	possibly damaging	Het
Ivd	A	T	2: 118,871,500	I138F	probably benign	Het
Lcn4	G	T	2: 26,671,216	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 120,012,665	Y192H	probably damaging	Het
Mn1	T	C	5: 111,418,857	L231P	probably damaging	Het
Morc1	A	G	16: 48,565,646	D544G	probably benign	Het
Mthfd1	C	A	12: 76,297,519	T331K	probably damaging	Het
Myo18b	T	A	5: 112,873,557	Y546F	probably benign	Het
Nod1	T	C	6: 54,939,325	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,232,973	V563A	probably damaging	Het
Olfr1253	A	T	2: 89,752,073	C252S	possibly damaging	Het
Olfr46	T	C	7: 140,610,585	Y140H	probably damaging	Het
Olfr497	T	C	7: 108,423,182	F204L	probably benign	Het
Olfr904	T	C	9: 38,464,241	S67P	probably damaging	Het
Olfr998	A	G	2: 85,591,422	N294S	probably damaging	Het
Orc3	T	A	4: 34,611,049		probably null	Het
Otog	T	C	7: 46,264,074	V777A	probably benign	Het
Pbxip1	G	T	3: 89,448,713	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,478,263	D92G	probably damaging	Het
Phkb	T	A	8: 86,056,467	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,152,621	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,199,459	V3287A	probably damaging	Het
Polq	T	A	16: 37,062,482	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,585,757	S195P	probably damaging	Het
Prdm2	T	C	4: 143,134,947	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,825,905	T268S	possibly damaging	Het
Scd2	A	T	19: 44,303,171	T350S	probably benign	Het
Scn7a	T	A	2: 66,687,747	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,979,029	L259Q	probably damaging	Het
Senp6	A	G	9: 80,126,398	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,304,303		probably null	Het
Slx4	T	C	16: 3,979,921	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,185	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,540,511	T12M	probably benign	Het
Synj2	G	T	17: 5,996,946	E20D	probably damaging	Het
Tchh	G	T	3: 93,445,974	R907L	unknown	Het
Thsd1	A	G	8: 22,259,231	E645G	probably benign	Het
Tmem176b	A	T	6: 48,835,449	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,591,406		probably null	Het
Trim44	G	A	2: 102,400,377		probably benign	Het
Triml1	T	A	8: 43,130,605	R320W	probably damaging	Het
Trmt6	A	T	2: 132,806,909	C401*	probably null	Het
Trpv5	T	C	6: 41,659,728		probably null	Het
V1rd19	T	A	7: 24,003,301	L64*	probably null	Het
Vmn1r216	A	T	13: 23,099,491	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,860,500	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,801,713	V269A	probably benign	Het
Vps13d	A	T	4: 145,155,243	V1254D	probably benign	Het
Xpr1	T	C	1: 155,281,029		probably null	Het
Zan	T	A	5: 137,452,450	T1622S	unknown	Het
Zfp112	T	C	7: 24,126,751	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,513,125	P308L	possibly 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
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
R8672:Atp11b	UTSW	3	35819917	missense	probably benign	0.19
R9047:Atp11b	UTSW	3	35806889	missense	probably damaging	0.98
R9065:Atp11b	UTSW	3	35832982	critical splice donor site	probably null
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'- GTACTAACCTGAAGAACTCTTTAGC -3'
(R):5'- GACTCTGAGAAAGTGTCAATTCCTC -3'

Sequencing Primer
(F):5'- ACCTGAAGAACTCTTTAGCATTTAG -3'
(R):5'- CTGAGAAAGTGTCAATTCCTCAAGAG -3'

Posted On

2014-08-25