Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Atp11b'

380443

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 #

R4937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35808255-35910425 bp(+) (GRCm39)

Type of Mutation

splice site (40 bp from exon)

DNA Base Change (assembly)

T to G at 35861157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6DFW5

Predicted Effect

probably null
Transcript: ENSMUST00000029257

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400

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 null
Transcript: ENSMUST00000029257

SMART Domains

Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400

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 null
Transcript: ENSMUST00000198599

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400

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 null
Transcript: ENSMUST00000198599

SMART Domains

Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400

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 null
Transcript: ENSMUST00000199892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200445

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,067 (GRCm39)	F597S	probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca16	G	T	7: 120,126,309 (GRCm39)	C1155F	probably damaging	Het
Adam26a	T	C	8: 44,021,918 (GRCm39)	D524G	probably damaging	Het
Adamts20	G	C	15: 94,277,656 (GRCm39)	H269D	probably benign	Het
Akap9	T	A	5: 4,100,145 (GRCm39)		probably null	Het
Akt3	T	C	1: 176,877,693 (GRCm39)	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,189,376 (GRCm39)	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974 (GRCm39)	S105P	probably benign	Het
Amph	A	G	13: 19,288,515 (GRCm39)	T335A	probably damaging	Het
Ank2	C	T	3: 126,756,050 (GRCm39)	V1056M	probably damaging	Het
Apoh	A	G	11: 108,298,204 (GRCm39)	D168G	probably benign	Het
Arfgef3	C	T	10: 18,465,454 (GRCm39)	A2130T	probably damaging	Het
Arhgap30	A	G	1: 171,230,897 (GRCm39)	D218G	probably benign	Het
Ascc3	C	T	10: 50,699,894 (GRCm39)	P1906S	probably damaging	Het
B4galnt2	A	G	11: 95,759,255 (GRCm39)	V343A	probably damaging	Het
Barhl1	T	C	2: 28,799,785 (GRCm39)	Y280C	probably damaging	Het
Bcar1	A	T	8: 112,447,669 (GRCm39)	Y103N	probably damaging	Het
Bid	A	G	6: 120,872,707 (GRCm39)	I150T	probably benign	Het
Ccdc171	T	C	4: 83,467,876 (GRCm39)	S74P	probably damaging	Het
Ccni	A	T	5: 93,336,113 (GRCm39)		probably null	Het
Cct8l1	A	G	5: 25,721,891 (GRCm39)	E202G	probably benign	Het
Cd200r3	A	G	16: 44,774,622 (GRCm39)	K212E	probably benign	Het
Cdh19	A	G	1: 110,817,694 (GRCm39)	S683P	probably damaging	Het
Ces2b	A	T	8: 105,559,413 (GRCm39)	H93L	probably benign	Het
Cimip2b	T	A	4: 43,427,514 (GRCm39)	Q270L	possibly damaging	Het
Clec4a1	G	A	6: 122,907,654 (GRCm39)	C114Y	probably damaging	Het
Dcc	G	T	18: 71,675,320 (GRCm39)	S636*	probably null	Het
Dcdc2c	T	C	12: 28,580,472 (GRCm39)	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,164,657 (GRCm39)	E150*	probably null	Het
Dhx30	A	G	9: 109,915,029 (GRCm39)	L884P	probably damaging	Het
Dmwd	T	G	7: 18,815,228 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,932,980 (GRCm39)	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,392,633 (GRCm39)	S447N	probably benign	Het
Elk4	G	A	1: 131,945,419 (GRCm39)	G99D	probably damaging	Het
Entpd1	A	T	19: 40,727,965 (GRCm39)		probably benign	Het
Fam114a1	T	A	5: 65,137,070 (GRCm39)	D4E	probably damaging	Het
Fbln2	A	G	6: 91,241,681 (GRCm39)	D754G	probably damaging	Het
Fhip2a	T	C	19: 57,367,069 (GRCm39)	V204A	probably benign	Het
Foxred2	T	C	15: 77,840,035 (GRCm39)	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591 (GRCm39)		probably benign	Het
Gm1818	G	A	12: 48,606,607 (GRCm39)		noncoding transcript	Het
Gm4894	C	A	9: 49,190,000 (GRCm39)	Q92K	unknown	Het
Gpx2	T	C	12: 76,839,574 (GRCm39)	I141M	probably benign	Het
Gusb	T	C	5: 130,024,326 (GRCm39)	T476A	probably damaging	Het
Hmmr	G	A	11: 40,612,667 (GRCm39)	T180I	possibly damaging	Het
Itgbl1	T	C	14: 124,210,780 (GRCm39)	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,187,951 (GRCm39)	C93*	probably null	Het
Ldaf1	T	C	7: 119,715,535 (GRCm39)	S120P	probably damaging	Het
Lpar3	A	G	3: 145,990,506 (GRCm39)	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,692,897 (GRCm39)		probably null	Het
Lrrc63	C	T	14: 75,322,389 (GRCm39)	G572S	probably damaging	Het
Mapk11	A	T	15: 89,030,685 (GRCm39)	D98E	probably benign	Het
Mgat4f	T	A	1: 134,317,714 (GRCm39)	M162K	probably benign	Het
Net1	G	A	13: 3,934,905 (GRCm39)	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005 (GRCm38)		noncoding transcript	Het
Nrap	T	A	19: 56,335,652 (GRCm39)	Y923F	probably damaging	Het
Or13a20	T	A	7: 140,232,534 (GRCm39)	M214K	probably benign	Het
Or4c108	T	A	2: 88,803,834 (GRCm39)	I134F	probably damaging	Het
Or6c215	A	T	10: 129,637,932 (GRCm39)	V154E	probably benign	Het
Plxnc1	A	G	10: 94,677,335 (GRCm39)	V964A	probably damaging	Het
Pmfbp1	A	G	8: 110,262,498 (GRCm39)	I731V	probably benign	Het
Polq	T	A	16: 36,848,274 (GRCm39)	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,811,620 (GRCm39)	D387G	probably benign	Het
Pramel25	T	C	4: 143,520,407 (GRCm39)	V53A	possibly damaging	Het
Prmt2	G	A	10: 76,056,842 (GRCm39)	T227I	probably damaging	Het
Psmd1	T	A	1: 86,010,947 (GRCm39)	F341I	probably damaging	Het
Ptpn23	T	C	9: 110,221,806 (GRCm39)	M127V	probably benign	Het
Ptprc	A	G	1: 138,017,238 (GRCm39)	F483L	probably damaging	Het
Rab35	A	C	5: 115,778,147 (GRCm39)	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,548,143 (GRCm39)	T486A	probably damaging	Het
Rgl3	A	T	9: 21,899,004 (GRCm39)	C68*	probably null	Het
Rilpl1	T	C	5: 124,653,594 (GRCm39)	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,393,520 (GRCm39)	I354V	probably benign	Het
Rspo3	T	C	10: 29,382,524 (GRCm39)	D50G	probably damaging	Het
Sbno1	A	G	5: 124,512,672 (GRCm39)	S1366P	possibly damaging	Het
Sema3c	A	G	5: 17,899,684 (GRCm39)	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,436,935 (GRCm39)	Y85F	probably benign	Het
Shprh	C	T	10: 11,032,863 (GRCm39)	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,388,103 (GRCm39)	S110P	probably benign	Het
Slc16a12	T	A	19: 34,652,643 (GRCm39)	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,109,268 (GRCm39)	S221P	probably damaging	Het
Slc35b3	A	T	13: 39,116,887 (GRCm39)	I366K	possibly damaging	Het
Slc44a5	T	C	3: 153,949,252 (GRCm39)		probably null	Het
Slc5a12	A	T	2: 110,450,753 (GRCm39)	D316V	probably damaging	Het
Ssr3	A	G	3: 65,299,874 (GRCm39)	S29P	probably damaging	Het
Taf2	G	A	15: 54,890,619 (GRCm39)	Q1055*	probably null	Het
Them6	A	T	15: 74,593,367 (GRCm39)	D75V	probably damaging	Het
Tom1l2	A	G	11: 60,149,744 (GRCm39)	S239P	probably damaging	Het
Tspear	A	G	10: 77,710,877 (GRCm39)	T500A	probably damaging	Het
Tubgcp6	G	A	15: 88,985,752 (GRCm39)	A1487V	probably damaging	Het
Uba7	G	A	9: 107,856,190 (GRCm39)	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147 (GRCm39)	C901*	probably null	Het
Vmn1r172	A	T	7: 23,359,312 (GRCm39)	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,215,010 (GRCm39)	Y331F	probably benign	Het
Wdr55	G	A	18: 36,895,451 (GRCm39)	V143I	probably benign	Het
Zbtb49	A	T	5: 38,371,307 (GRCm39)	D191E	possibly damaging	Het
Zfhx4	A	G	3: 5,307,071 (GRCm39)	H99R	probably damaging	Het
Zfp1005	C	T	2: 150,110,680 (GRCm39)	H457Y	unknown	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,478,354 (GRCm39)	A177V	probably benign	Het
Zfp653	C	T	9: 21,967,074 (GRCm39)	E604K	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
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'- GTATGTGACAGTTGAGATGCAG -3'
(R):5'- TGAAATGGTAAGGTAATAGCTGTCC -3'

Sequencing Primer
(F):5'- GTGACAGTTGAGATGCAGAAATTTC -3'
(R):5'- GACTACAGGTTCTTGTGGAAACC -3'

Posted On

2016-04-15