Mutagenetix > Incidental Mutation

Incidental Mutation 'R2439:Atp11b'

249724

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

Accession Numbers

Essential gene?

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

Stock #

R2439 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35808255-35910425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35868233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 635 (T635K)

Ref Sequence

ENSEMBL: ENSMUSP00000029257 (fasta)

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029257
AA Change: T635K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: T635K

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: T435K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: T435K

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

noncoding transcript
Transcript: ENSMUST00000200445

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Btla	G	T	16: 45,059,503 (GRCm39)	C69F	probably damaging	Het
Cdh10	T	G	15: 19,013,484 (GRCm39)	L695V	probably damaging	Het
Cfap44	C	T	16: 44,301,609 (GRCm39)		probably benign	Het
Dock10	T	G	1: 80,510,149 (GRCm39)	N1560H	probably damaging	Het
Ephb6	C	A	6: 41,595,669 (GRCm39)	H809Q	probably benign	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Gdf7	A	G	12: 8,348,050 (GRCm39)	S416P	probably damaging	Het
Ints8	T	C	4: 11,225,725 (GRCm39)	M611V	probably benign	Het
Lypd8l	A	G	11: 58,501,603 (GRCm39)	C127R	probably damaging	Het
Mical2	A	G	7: 111,994,002 (GRCm39)	E504G	probably damaging	Het
Mrps30	G	A	13: 118,521,808 (GRCm39)	P231S	probably damaging	Het
Nr1h3	T	C	2: 91,020,565 (GRCm39)	D256G	probably benign	Het
Pramel5	T	C	4: 144,000,310 (GRCm39)	M89V	probably benign	Het
Psg18	T	C	7: 18,080,044 (GRCm39)	T386A	probably benign	Het
Ptprc	A	G	1: 137,993,890 (GRCm39)	V1180A	possibly damaging	Het
Rassf8	T	C	6: 145,761,060 (GRCm39)	S129P	probably damaging	Het
Rbm6	A	G	9: 107,656,796 (GRCm39)	Y994H	probably damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc2a4	A	G	11: 69,836,451 (GRCm39)	F222S	possibly damaging	Het
Smarca2	T	C	19: 26,668,854 (GRCm39)		probably null	Het
Tmtc4	T	G	14: 123,209,315 (GRCm39)	N110T	probably damaging	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Umad1	T	A	6: 8,427,078 (GRCm39)	D110E	probably damaging	Het
Ylpm1	A	G	12: 85,060,891 (GRCm39)		probably benign	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
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
R5465:Atp11b	UTSW	3	35,864,333 (GRCm39)	missense	probably benign	0.00
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'- ATCGAAGTCAAGTGCAGATTGC -3'
(R):5'- CATAGTGGCTCACAACCATTTG -3'

Sequencing Primer
(F):5'- GTCAAGTGCAGATTGCTAAGTTTATG -3'
(R):5'- GCTGTAGCTCCTAGCAAT -3'

Posted On

2014-11-12