Mutagenetix > Incidental Mutation

Incidental Mutation 'R5465:Atp11b'

433197

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

043026-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R5465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35808255-35910425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35864333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 302 (V302I)

Ref Sequence

ENSEMBL: ENSMUSP00000142676 (fasta)

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

probably benign
Transcript: ENSMUST00000029257
AA Change: V502I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: V502I

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

noncoding transcript
Transcript: ENSMUST00000196965

Predicted Effect

probably benign
Transcript: ENSMUST00000198599
AA Change: V302I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: V302I

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

probably benign
Transcript: ENSMUST00000199892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200445

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp1	T	C	7: 30,136,277 (GRCm39)	D500G	probably benign	Het
Atg7	G	A	6: 114,629,493 (GRCm39)	G4R	probably benign	Het
Cacna1b	C	T	2: 24,540,438 (GRCm39)		probably null	Het
Ccna1	T	C	3: 54,953,065 (GRCm39)	H234R	probably benign	Het
Cplx2	G	A	13: 54,527,352 (GRCm39)	E79K	possibly damaging	Het
Dnai4	T	A	4: 102,906,758 (GRCm39)	D685V	probably damaging	Het
Gnb2	A	G	5: 137,526,775 (GRCm39)	I380T	probably damaging	Het
Gpr162	A	T	6: 124,838,134 (GRCm39)	V172D	probably damaging	Het
Gtf2a1	A	C	12: 91,534,565 (GRCm39)	F191V	possibly damaging	Het
Ift172	A	T	5: 31,418,862 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,658,255 (GRCm39)	Y272H	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,136,506 (GRCm39)	S2203P	probably damaging	Het
Map3k1	A	T	13: 111,892,654 (GRCm39)	L867Q	probably benign	Het
Ncapd2	A	T	6: 125,153,746 (GRCm39)	F656L	probably damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or5b109	T	C	19: 13,212,052 (GRCm39)	I146T	probably benign	Het
Or7c70	T	C	10: 78,682,852 (GRCm39)	K299R	probably benign	Het
Pcdhb6	A	T	18: 37,467,783 (GRCm39)	I235F	probably damaging	Het
Pzp	A	G	6: 128,463,924 (GRCm39)	S1395P	probably damaging	Het
Ralgapb	C	A	2: 158,290,325 (GRCm39)	T412N	possibly damaging	Het
Rtn4r	A	T	16: 17,969,291 (GRCm39)	M240L	probably benign	Het
Slit2	C	T	5: 48,407,254 (GRCm39)	T895I	probably damaging	Het
Slx4ip	T	G	2: 136,846,867 (GRCm39)	L44R	probably damaging	Het
Sptbn2	C	A	19: 4,800,133 (GRCm39)	Q2196K	probably benign	Het
Tbc1d16	G	A	11: 119,046,885 (GRCm39)	S454L	probably benign	Het
Tet1	T	C	10: 62,675,556 (GRCm39)	H840R	probably benign	Het
Usp47	C	T	7: 111,658,209 (GRCm39)	T176M	probably damaging	Het
Utp6	A	T	11: 79,839,836 (GRCm39)	I284N	probably benign	Het
Vcpip1	T	C	1: 9,817,372 (GRCm39)	H337R	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Atp11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Atp11b	APN	3	35,863,525 (GRCm39)	splice site	probably null
IGL00722:Atp11b	APN	3	35,874,084 (GRCm39)	missense	probably damaging	1.00
IGL00725:Atp11b	APN	3	35,881,222 (GRCm39)	missense	probably damaging	0.97
IGL01514:Atp11b	APN	3	35,891,130 (GRCm39)	missense	probably damaging	1.00
IGL01532:Atp11b	APN	3	35,903,651 (GRCm39)	nonsense	probably null
IGL01789:Atp11b	APN	3	35,843,741 (GRCm39)	missense	possibly damaging	0.81
IGL01915:Atp11b	APN	3	35,885,612 (GRCm39)	missense	probably damaging	1.00
IGL02009:Atp11b	APN	3	35,868,301 (GRCm39)	missense	probably benign	0.07
IGL02049:Atp11b	APN	3	35,854,642 (GRCm39)	missense	probably damaging	0.99
IGL02952:Atp11b	APN	3	35,882,844 (GRCm39)	missense	probably damaging	1.00
IGL02991:Atp11b	UTSW	3	35,881,140 (GRCm39)	missense	probably benign	0.00
R0044:Atp11b	UTSW	3	35,866,401 (GRCm39)	missense	probably damaging	0.99
R0254:Atp11b	UTSW	3	35,866,259 (GRCm39)	missense	possibly damaging	0.82
R0538:Atp11b	UTSW	3	35,891,163 (GRCm39)	missense	probably damaging	1.00
R0541:Atp11b	UTSW	3	35,861,093 (GRCm39)	missense	probably damaging	0.99
R0653:Atp11b	UTSW	3	35,893,343 (GRCm39)	missense	probably damaging	0.99
R0790:Atp11b	UTSW	3	35,887,072 (GRCm39)	missense	probably damaging	1.00
R1083:Atp11b	UTSW	3	35,832,162 (GRCm39)	splice site	probably benign
R1371:Atp11b	UTSW	3	35,860,918 (GRCm39)	missense	probably damaging	0.97
R1458:Atp11b	UTSW	3	35,843,707 (GRCm39)	missense	probably damaging	1.00
R1875:Atp11b	UTSW	3	35,893,296 (GRCm39)	missense	probably damaging	1.00
R1921:Atp11b	UTSW	3	35,888,474 (GRCm39)	missense	probably damaging	1.00
R2008:Atp11b	UTSW	3	35,909,271 (GRCm39)	missense	probably damaging	0.97
R2065:Atp11b	UTSW	3	35,893,223 (GRCm39)	missense	probably damaging	1.00
R2112:Atp11b	UTSW	3	35,891,677 (GRCm39)	missense	probably damaging	1.00
R2228:Atp11b	UTSW	3	35,861,091 (GRCm39)	missense	probably damaging	1.00
R2270:Atp11b	UTSW	3	35,864,283 (GRCm39)	splice site	probably null
R2273:Atp11b	UTSW	3	35,882,762 (GRCm39)	missense	probably benign	0.04
R2439:Atp11b	UTSW	3	35,868,233 (GRCm39)	missense	possibly damaging	0.68
R2497:Atp11b	UTSW	3	35,909,294 (GRCm39)	missense	probably damaging	0.99
R4181:Atp11b	UTSW	3	35,854,714 (GRCm39)	missense	probably benign	0.19
R4181:Atp11b	UTSW	3	35,843,707 (GRCm39)	missense	probably damaging	1.00
R4714:Atp11b	UTSW	3	35,888,543 (GRCm39)	missense	probably benign	0.02
R4923:Atp11b	UTSW	3	35,889,528 (GRCm39)	critical splice donor site	probably null
R4937:Atp11b	UTSW	3	35,861,157 (GRCm39)	splice site	probably null
R5013:Atp11b	UTSW	3	35,888,532 (GRCm39)	missense	possibly damaging	0.66
R5058:Atp11b	UTSW	3	35,863,510 (GRCm39)	missense	probably benign	0.41
R5171:Atp11b	UTSW	3	35,887,086 (GRCm39)	missense	probably damaging	1.00
R5200:Atp11b	UTSW	3	35,891,156 (GRCm39)	missense	probably benign	0.21
R5651:Atp11b	UTSW	3	35,909,289 (GRCm39)	missense	probably damaging	1.00
R5689:Atp11b	UTSW	3	35,888,501 (GRCm39)	missense	possibly damaging	0.67
R5718:Atp11b	UTSW	3	35,891,665 (GRCm39)	missense	probably benign	0.12
R5807:Atp11b	UTSW	3	35,866,428 (GRCm39)	missense	probably damaging	1.00
R5888:Atp11b	UTSW	3	35,891,696 (GRCm39)	missense	probably benign	0.15
R6059:Atp11b	UTSW	3	35,868,326 (GRCm39)	missense	possibly damaging	0.72
R6259:Atp11b	UTSW	3	35,861,050 (GRCm39)	missense	probably damaging	1.00
R6359:Atp11b	UTSW	3	35,832,210 (GRCm39)	missense	probably benign	0.04
R6367:Atp11b	UTSW	3	35,838,686 (GRCm39)	missense	probably damaging	1.00
R6577:Atp11b	UTSW	3	35,893,311 (GRCm39)	missense	probably damaging	0.99
R6818:Atp11b	UTSW	3	35,868,329 (GRCm39)	missense	possibly damaging	0.71
R7016:Atp11b	UTSW	3	35,895,185 (GRCm39)	missense	probably benign
R7178:Atp11b	UTSW	3	35,874,099 (GRCm39)	missense	probably benign	0.34
R7614:Atp11b	UTSW	3	35,864,259 (GRCm39)	splice site	probably null
R7729:Atp11b	UTSW	3	35,832,256 (GRCm39)	missense	probably damaging	0.97
R7910:Atp11b	UTSW	3	35,885,652 (GRCm39)	missense	possibly damaging	0.68
R7967:Atp11b	UTSW	3	35,895,192 (GRCm39)	missense	probably benign	0.03
R8085:Atp11b	UTSW	3	35,895,185 (GRCm39)	missense	probably benign
R8095:Atp11b	UTSW	3	35,888,565 (GRCm39)	missense	probably damaging	1.00
R8499:Atp11b	UTSW	3	35,864,854 (GRCm39)	missense	probably benign	0.01
R8672:Atp11b	UTSW	3	35,874,066 (GRCm39)	missense	probably benign	0.19
R9046:Atp11b	UTSW	3	35,852,740 (GRCm39)	splice site	probably benign
R9047:Atp11b	UTSW	3	35,861,038 (GRCm39)	missense	probably damaging	0.98
R9065:Atp11b	UTSW	3	35,887,131 (GRCm39)	critical splice donor site	probably null
R9713:Atp11b	UTSW	3	35,885,560 (GRCm39)	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35,903,621 (GRCm39)	missense	probably benign	0.25
R9761:Atp11b	UTSW	3	35,903,616 (GRCm39)	missense	probably damaging	1.00
R9761:Atp11b	UTSW	3	35,903,607 (GRCm39)	nonsense	probably null
Z1088:Atp11b	UTSW	3	35,866,362 (GRCm39)	missense	probably damaging	1.00
Z1177:Atp11b	UTSW	3	35,861,003 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGAAATTCAGGTTGTGGGGC -3'
(R):5'- TCGACAGGCTAGACTACATCC -3'

Sequencing Primer
(F):5'- GCTCTTGTTTTAGCTCTCAGGGTC -3'
(R):5'- CCACCAGAGCCTTTTCAT -3'

Posted On

2016-10-06