Mutagenetix > Incidental Mutation

Incidental Mutation 'R0790:Atp11b'

76427

Institutional Source

Beutler Lab

Gene Symbol

Atp11b

Ensembl Gene

ENSMUSG00000037400

Gene Name

ATPase, class VI, type 11B

Synonyms

1110019I14Rik

MMRRC Submission

038970-MU

Accession Numbers

Essential gene?

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

Stock #

R0790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35808255-35910425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35887072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 685 (N685K)

Ref Sequence

ENSEMBL: ENSMUSP00000142676 (fasta)

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000029257
AA Change: N885K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: N885K

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: ENSMUST00000197003

Predicted Effect

probably damaging
Transcript: ENSMUST00000198599
AA Change: N685K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: N685K

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

Meta Mutation Damage Score

0.9539

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.0%

Validation Efficiency

100% (41/41)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	G	12: 8,060,245 (GRCm39)	E2876G	probably damaging	Het
Arhgef28	A	G	13: 98,117,914 (GRCm39)	S585P	possibly damaging	Het
Camsap2	C	T	1: 136,201,475 (GRCm39)		probably benign	Het
Ccdc150	T	A	1: 54,316,935 (GRCm39)		probably benign	Het
Cdc23	A	G	18: 34,784,666 (GRCm39)	I32T	possibly damaging	Het
Cdca2	C	T	14: 67,917,740 (GRCm39)	D553N	probably benign	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Chit1	T	G	1: 134,066,490 (GRCm39)	V2G	probably benign	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Cpsf4l	A	G	11: 113,597,234 (GRCm39)		probably benign	Het
Etaa1	G	T	11: 17,896,051 (GRCm39)	Q689K	probably benign	Het
Fam83h	C	T	15: 75,875,241 (GRCm39)	V699I	probably benign	Het
Fry	A	G	5: 150,389,902 (GRCm39)	D2545G	probably benign	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif5a	T	C	10: 127,081,878 (GRCm39)		probably benign	Het
Lifr	A	G	15: 7,215,196 (GRCm39)	T768A	probably benign	Het
Mrap2	T	C	9: 87,064,835 (GRCm39)	L192P	possibly damaging	Het
Myo18a	G	A	11: 77,731,535 (GRCm39)	R840Q	possibly damaging	Het
Myrfl	T	C	10: 116,653,693 (GRCm39)	D458G	probably damaging	Het
Or12j4	T	C	7: 140,046,962 (GRCm39)	S283P	possibly damaging	Het
Or51s1	A	G	7: 102,558,843 (GRCm39)	Y68H	probably benign	Het
Pcdh15	A	G	10: 74,466,885 (GRCm39)	E1034G	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcb2	G	A	2: 118,542,964 (GRCm39)		probably benign	Het
Psmd1	T	C	1: 86,005,172 (GRCm39)	V202A	possibly damaging	Het
Raet1d	T	C	10: 22,246,795 (GRCm39)	I41T	probably damaging	Het
Retnlb	T	A	16: 48,637,589 (GRCm39)	L5Q	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,292 (GRCm39)	Y145H	probably damaging	Het
Smad7	C	T	18: 75,526,933 (GRCm39)	H260Y	probably benign	Het
Stk10	T	C	11: 32,548,653 (GRCm39)	V407A	probably benign	Het
Synpo	A	G	18: 60,736,575 (GRCm39)	V218A	probably damaging	Het
Tll2	T	A	19: 41,092,289 (GRCm39)	Y499F	probably damaging	Het
Vrk1	C	T	12: 106,036,883 (GRCm39)	P390S	probably benign	Het
Zfp748	A	C	13: 67,693,481 (GRCm39)	L64W	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
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
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'- GTGTGGACAGTGCTCTTCTACCTTG -3'
(R):5'- CTGACTGCACCATAGGAGGAAAGC -3'

Sequencing Primer
(F):5'- GACAGTAAGATCCTCTGCTAGTTC -3'
(R):5'- ATGAATGCTAGGTGGATTAAGTAAC -3'

Posted On

2013-10-16