Mutagenetix > Incidental Mutations

Incidental Mutation 'R2134:Atp11c'

233680

Institutional Source

Beutler Lab

Gene Symbol

Atp11c

Ensembl Gene

ENSMUSG00000062949

Gene Name

ATPase, class VI, type 11C

Synonyms

Ig, A330005H02Rik

MMRRC Submission

040137-MU

Accession Numbers

Genbank: NM_001001798; MGI: 1859661

Is this an essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R2134 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

60223290-60592698 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60276783 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 593 (Y593H)

Ref Sequence

ENSEMBL: ENSMUSP00000119320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033480] [ENSMUST00000101527] [ENSMUST00000154051]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033480
AA Change: Y593H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000033480
Gene: ENSMUSG00000062949
AA Change: Y593H

Domain	Start	End	E-Value	Type
low complexity region	78	91	N/A	INTRINSIC
Pfam:E1-E2_ATPase	94	379	5.2e-18	PFAM
Pfam:Hydrolase	403	827	1.6e-12	PFAM
Pfam:HAD	406	825	9.2e-21	PFAM
Pfam:Hydrolase_like2	467	576	1.3e-14	PFAM
low complexity region	853	865	N/A	INTRINSIC
low complexity region	994	1013	N/A	INTRINSIC
low complexity region	1068	1085	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101527
AA Change: Y593H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099066
Gene: ENSMUSG00000062949
AA Change: Y593H

Domain	Start	End	E-Value	Type
low complexity region	78	91	N/A	INTRINSIC
Pfam:E1-E2_ATPase	94	379	1.2e-17	PFAM
Pfam:Hydrolase	403	827	1.8e-12	PFAM
Pfam:HAD	406	825	1.4e-20	PFAM
Pfam:Hydrolase_like2	467	576	3.7e-14	PFAM
low complexity region	853	865	N/A	INTRINSIC
low complexity region	994	1013	N/A	INTRINSIC
low complexity region	1068	1085	N/A	INTRINSIC
low complexity region	1091	1105	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138569

Predicted Effect

probably damaging
Transcript: ENSMUST00000154051
AA Change: Y593H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119320
Gene: ENSMUSG00000062949
AA Change: Y593H

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	22	91	2.6e-25	PFAM
Pfam:E1-E2_ATPase	96	371	2.7e-13	PFAM
Pfam:Hydrolase	403	725	2.4e-7	PFAM
Pfam:HAD	406	825	3.4e-19	PFAM
Pfam:Cation_ATPase	467	576	8.6e-14	PFAM
Pfam:PhoLip_ATPase_C	842	1094	3.4e-71	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous or hemizygous for an ENU mutation exhibit decreased B cells associated with arrested adult B cell lymphopoiesis. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,030,917	V1437E	probably null	Het
Adam12	G	A	7: 134,012,288	R80*	probably null	Het
Adgrb3	G	T	1: 25,093,957	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,605,487	V1165E	possibly damaging	Het
Atm	C	T	9: 53,467,964		probably null	Het
Btnl1	A	G	17: 34,385,634	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,742,426	W151G	probably damaging	Het
Cdkal1	A	G	13: 29,354,677	S500P	possibly damaging	Het
Cenpf	T	C	1: 189,658,642	N998D	probably benign	Het
Ces2e	T	A	8: 104,932,539		probably null	Het
Chd7	A	G	4: 8,753,147	Q548R	probably damaging	Het
Chfr	T	A	5: 110,144,761		probably null	Het
Clu	A	G	14: 65,974,841		probably null	Het
Cntnap5c	A	G	17: 58,407,722	D1235G	probably damaging	Het
Col6a4	T	C	9: 106,066,661	S1205G	probably benign	Het
Ddx47	G	T	6: 135,015,350	E113*	probably null	Het
Dock4	A	G	12: 40,745,668	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,656,631	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,234,279	C730Y	probably damaging	Het
Fam83b	T	C	9: 76,491,016	Y935C	probably damaging	Het
Fam83g	A	G	11: 61,703,684	I681M	probably benign	Het
Fastk	T	C	5: 24,445,141	R3G	probably damaging	Het
Fxr1	A	T	3: 34,058,047	E367D	probably damaging	Het
Gatb	A	G	3: 85,611,370	D261G	probably damaging	Het
Gm5617	T	C	9: 48,495,817	S84P	possibly damaging	Het
Gm6614	T	C	6: 141,980,978	I541V	probably damaging	Het
Hecw1	C	T	13: 14,377,700	E104K	probably damaging	Het
Il31ra	T	C	13: 112,543,888	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,024,410		probably null	Het
Lrp2	T	A	2: 69,511,067	D923V	probably damaging	Het
Ltn1	A	G	16: 87,382,713	L1520P	probably damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Map1s	T	G	8: 70,913,882	V477G	probably benign	Het
Mical1	T	C	10: 41,482,712	L542P	probably damaging	Het
Mycbp2	T	C	14: 103,208,893	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,986,476	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,124,188	F79I	probably benign	Het
Olfr653	T	C	7: 104,579,641		probably benign	Het
Pde9a	A	G	17: 31,386,310	Y6C	probably damaging	Het
Plxnd1	A	T	6: 115,957,548	I1808N	probably damaging	Het
Ppp1r13b	T	A	12: 111,833,733	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,016,475	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,563,487	R976*	probably null	Het
Rbfox3	T	C	11: 118,497,016	H195R	probably damaging	Het
Ripk4	A	T	16: 97,743,733	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,005,553	R16S	probably benign	Het
Slc17a1	G	T	13: 23,875,675	G130*	probably null	Het
Slc6a1	G	T	6: 114,302,016	A23S	probably benign	Het
Soga3	T	A	10: 29,196,399	Y562*	probably null	Het
Spock1	T	A	13: 57,436,139	Q321L	probably damaging	Het
Syne2	A	G	12: 75,952,786	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,011,639	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487	F403L	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,804	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,573,104	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,291,763	Y581F	probably damaging	Het
Vps13d	A	G	4: 145,148,339	V1866A	probably benign	Het
Washc5	A	T	15: 59,369,234	F84Y	probably damaging	Het
Yars	T	A	4: 129,197,199	Y28*	probably null	Het
Zfp638	A	G	6: 83,928,982	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,513,932	H39L	probably damaging	Het
Zfr2	C	A	10: 81,242,901	S322R	probably damaging	Het
Zzef1	A	G	11: 72,880,624	D1644G	probably benign	Het

Other mutations in Atp11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
18nih30a	APN	X	36608577	unclassified	probably benign
ambrosius	APN	X	36608577	unclassified	probably benign
IGL00578:Atp11c	APN	X	60240817	missense	probably damaging	1.00
IGL01702:Atp11c	APN	X	60269903	missense	probably damaging	0.96
emptyhive	UTSW	X	60269987	nonsense	probably null
hit	UTSW	X		nonsense
spelling	UTSW	X	60290036	missense	probably damaging	1.00
R1551:Atp11c	UTSW	X	60236712	critical splice acceptor site	probably null
R3687:Atp11c	UTSW	X	60281644	missense	probably benign	0.07
R3688:Atp11c	UTSW	X	60281644	missense	probably benign	0.07
R4496:Atp11c	UTSW	X	60280744	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTACTTGTCTTCCACAGCAGTG -3'
(R):5'- AGCATTTCTCTTTCATACAGATGGG -3'

Sequencing Primer
(F):5'- GCAGTGGCTCCAATTAAATTCATG -3'
(R):5'- AGAAGACCCCAGTTTGGTTC -3'

Posted On

2014-10-01