Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Atp11b'

558747

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

045232-MU

Accession Numbers

Essential gene?

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

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35819950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 696 (M696K)

Ref Sequence

ENSEMBL: ENSMUSP00000029257 (fasta)

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

probably benign
Transcript: ENSMUST00000029257
AA Change: M696K

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: M696K

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

probably benign
Transcript: ENSMUST00000198599
AA Change: M496K

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: M496K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,628,461	I130T	possibly damaging	Het
Adam24	T	A	8: 40,680,000	L169*	probably null	Het
Als2	A	T	1: 59,207,812	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,649,440	N212K		Het
Anpep	T	C	7: 79,840,988	D260G	probably benign	Het
Arhgap17	A	T	7: 123,285,358		probably null	Het
Atad2	C	T	15: 58,117,293	R383Q	probably damaging	Het
Atp13a2	A	G	4: 140,999,151	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,943,672	D29G	possibly damaging	Het
Baz2a	C	T	10: 128,124,457	R1514W	probably damaging	Het
Cep250	T	A	2: 155,973,455	L631*	probably null	Het
Clec4a3	T	C	6: 122,964,292	I82T	probably benign	Het
Csmd3	T	A	15: 47,590,774	I2648F		Het
Cul5	A	G	9: 53,644,526	F247L	probably benign	Het
D430042O09Rik	T	C	7: 125,866,327	V1317A	probably benign	Het
Dnajc24	A	T	2: 105,970,462	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,694,993	V1848E	probably damaging	Het
Dspp	A	G	5: 104,174,066	T14A	probably benign	Het
Fam166a	G	A	2: 25,220,240	V55I	probably damaging	Het
Fam196b	G	T	11: 34,402,359	V134F	probably damaging	Het
Gm7298	T	G	6: 121,785,896	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,709,163	S62R	unknown	Het
Gtsf1	T	G	15: 103,419,961	N130T	probably benign	Het
Heatr5a	C	A	12: 51,925,142	S755I	probably damaging	Het
Hrc	A	G	7: 45,336,261	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,233,510	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,835	S256G	probably benign	Het
Ipo13	A	G	4: 117,903,884	S546P	possibly damaging	Het
Kif24	A	G	4: 41,395,085	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,671,074	V176A	probably benign	Het
Lgi1	T	C	19: 38,306,285	Y502H	probably damaging	Het
Liph	T	A	16: 21,976,328	D178V	probably damaging	Het
Maea	T	C	5: 33,358,510	V47A	probably damaging	Het
Mak16	A	C	8: 31,166,574	S42A	probably benign	Het
Mamdc4	T	C	2: 25,568,965	I269V	probably benign	Het
Mapk8ip3	A	T	17: 24,901,754	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788	S889T	unknown	Het
Npy6r	A	G	18: 44,276,484	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,356,147	T489P	possibly damaging	Het
Olfr1102	G	A	2: 87,002,535	V189I	probably benign	Het
Olfr187	T	A	16: 59,035,933	D268V	probably benign	Het
Olfr69	G	A	7: 103,767,975	Q141*	probably null	Het
Otof	G	C	5: 30,383,534	T887S	possibly damaging	Het
Papola	T	C	12: 105,807,184	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,715,630	H1421R	probably benign	Het
Plpp5	T	C	8: 25,720,579	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,518,337	I154L	probably benign	Het
Prr18	A	C	17: 8,341,909	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,477,259	S198F	possibly damaging	Het
Qars	T	C	9: 108,515,123	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,636,752	R185*	probably null	Het
Scn2a	C	T	2: 65,748,853	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,080,776	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,258,148	T175A	probably damaging	Het
Skiv2l	T	C	17: 34,839,464	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,667,511	I427V	possibly damaging	Het
Slc2a2	C	T	3: 28,719,482	A312V	possibly damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spcs1	G	A	14: 31,000,481	S127F	possibly damaging	Het
Speg	T	C	1: 75,422,383	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,418,056	I423F	probably damaging	Het
Synj2	T	A	17: 6,026,479	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,055,660	D45V	probably damaging	Het
Tcf3	C	A	10: 80,421,599	V11F	unknown	Het
Tead1	A	T	7: 112,841,937	Q91L	probably benign	Het
Tgm5	T	A	2: 121,085,768		probably benign	Het
Tgoln1	C	T	6: 72,616,045	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,827,539	N445K	probably benign	Het
Ttn	G	C	2: 76,710,170	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,136,162	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,996,994	L684F	probably damaging	Het
Zfp661	T	C	2: 127,577,536	D228G	probably benign	Het
Zfp738	T	C	13: 67,673,028	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,100,930	D378E	probably damaging	Het
Zswim9	T	A	7: 13,259,997	D744V	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
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
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'- ACCAACTCTGTGGATAATACCC -3'
(R):5'- TTACCTTCTGGCAAGCTGC -3'

Sequencing Primer
(F):5'- GGTTTTGTTTGAACTAGATAGCCAC -3'
(R):5'- GCAAGCTGCCTCAACTGTTCAG -3'

Posted On

2019-06-26