Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Atp11b'

688093

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35806889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 375 (D375G)

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: D375G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: D375G

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 damaging
Transcript: ENSMUST00000198599
AA Change: D175G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: D175G

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

Meta Mutation Damage Score

0.8276

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	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
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
R9046:Atp11b	UTSW	3	35798591	splice site	probably benign
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'- CCCCAGTAAGCAGAGGAGAT -3'
(R):5'- TGCTCTGGTAGAACCTTTGTGA -3'

Sequencing Primer
(F):5'- ATGCTAGGTTACCTCAGGATATGG -3'
(R):5'- TCTGGTAGAACCTTTGTGATATTTTC -3'

Posted On

2021-11-19