Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Atp11b'

661194

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 #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35754106-35856276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35819917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 685 (D685V)

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: D685V

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: D685V

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: D485V

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: D485V

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: 99.3%
20x: 97.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,090,329	E45*	probably null	Het
4932415D10Rik	A	T	10: 82,291,892	N1761K	probably benign	Het
9930021J03Rik	T	C	19: 29,754,164	T483A	probably benign	Het
Aadat	A	T	8: 60,506,145		probably benign	Het
Amigo3	A	G	9: 108,054,176	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,529,497	M214K	probably damaging	Het
Aunip	T	A	4: 134,523,149	M135K	probably benign	Het
Card9	T	C	2: 26,357,938	T134A	probably benign	Het
Cd46	G	A	1: 195,082,641	T216I	probably benign	Het
Chit1	T	C	1: 134,151,267	V360A	unknown	Het
Crcp	A	G	5: 130,042,236	R59G	probably benign	Het
Csmd1	T	A	8: 15,926,598	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,914,920	M449L	probably benign	Het
Dpp7	T	C	2: 25,356,121	D40G	probably benign	Het
Eif4g3	T	A	4: 138,126,512	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,249,670	I454V	probably benign	Het
Gbp11	T	A	5: 105,343,809	I41F	probably damaging	Het
Gkap1	G	A	13: 58,243,848	T231I	probably damaging	Het
Heatr5b	A	G	17: 78,762,203	L1705P	probably damaging	Het
Herc3	T	A	6: 58,873,801	F467I	probably damaging	Het
Ifih1	T	C	2: 62,605,649	E699G	possibly damaging	Het
Ints5	T	A	19: 8,896,006	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,374,518	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,501,162	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,628,064	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793	D5384G	probably damaging	Het
Mpl	T	C	4: 118,448,913	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,753,797	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Nemp1	T	C	10: 127,677,119	S8P	probably benign	Het
Nisch	A	G	14: 31,173,136	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,493	N404D	probably damaging	Het
Nwd1	C	G	8: 72,667,379	H423Q	probably damaging	Het
Olfr1062	T	A	2: 86,423,632	M15L	probably benign	Het
Olfr76	C	T	19: 12,120,557	V52M	probably benign	Het
Olfr792	T	A	10: 129,540,727	N63K	probably damaging	Het
Pcdh9	T	C	14: 93,887,093	N547S	probably benign	Het
Pdha2	C	A	3: 141,211,363	R128L	probably damaging	Het
Pebp1	A	G	5: 117,283,271	Y181H	probably benign	Het
Peg3	T	G	7: 6,708,524	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,942,682	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,156,392	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,443,276	M647R	probably damaging	Het
Rp1	A	G	1: 4,348,784	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,232,508	V433D	possibly damaging	Het
Spen	C	T	4: 141,470,370	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,553,494	K705N	probably damaging	Het
Thbs1	C	A	2: 118,113,238	N112K	probably benign	Het
Zfp658	T	C	7: 43,573,495	I398T	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
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
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'- AGGCTACCGAGTTAGTCAGG -3'
(R):5'- AGCACATCCACTATCTGACTTC -3'

Sequencing Primer
(F):5'- GGTTCATAAAAACCAACTCTGTGG -3'
(R):5'- CCACTATCTGACTTCTGGTTGATAAG -3'

Posted On

2021-03-08