Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Atp8b5'

61423

Institutional Source

Beutler Lab

Gene Symbol

Atp8b5

Ensembl Gene

ENSMUSG00000028457

Gene Name

ATPase, class I, type 8B, member 5

Synonyms

4930417M19Rik, FetA

MMRRC Submission

038856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0671 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43267159-43373833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43291672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 15 (C15F)

Ref Sequence

ENSEMBL: ENSMUSP00000103570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102953] [ENSMUST00000107937] [ENSMUST00000107942] [ENSMUST00000136262]

AlphaFold

A3FIN4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056010

Predicted Effect

probably benign
Transcript: ENSMUST00000102953
AA Change: C15F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
AA Change: C15F

Domain	Start	End	E-Value	Type
coiled coil region	20	49	N/A	INTRINSIC
Blast:CUB	55	90	1e-6	BLAST
Pfam:E1-E2_ATPase	107	305	4.7e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107937
AA Change: C15F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000107942
AA Change: C15F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
AA Change: C15F

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	104	1.8e-26	PFAM
Pfam:E1-E2_ATPase	103	375	4.9e-9	PFAM
Pfam:HAD	413	847	2e-18	PFAM
Pfam:Cation_ATPase	495	594	1e-9	PFAM
Pfam:PhoLip_ATPase_C	864	1118	2.6e-77	PFAM
low complexity region	1171	1180	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000136262
AA Change: C15F

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,729,637 (GRCm39)		probably benign	Het
A530064D06Rik	G	A	17: 48,473,824 (GRCm39)	T31I	probably benign	Het
Abca17	A	G	17: 24,500,223 (GRCm39)	F1323L	probably benign	Het
Abcf3	T	A	16: 20,369,237 (GRCm39)	N206K	probably damaging	Het
Adam10	A	G	9: 70,673,223 (GRCm39)		probably benign	Het
Adamtsl3	A	T	7: 82,172,390 (GRCm39)	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,708,752 (GRCm39)	I413N	probably benign	Het
Asb18	G	T	1: 89,920,893 (GRCm39)	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,059,743 (GRCm39)	S428P	possibly damaging	Het
Bahcc1	A	G	11: 120,178,146 (GRCm39)	E2235G	probably damaging	Het
Blnk	G	T	19: 40,926,111 (GRCm39)	S330*	probably null	Het
Bpnt1	T	G	1: 185,088,808 (GRCm39)	N319K	probably benign	Het
Brip1	G	A	11: 86,043,493 (GRCm39)	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,725,104 (GRCm39)	D288E	probably benign	Het
Calcoco2	A	G	11: 95,998,354 (GRCm39)	V23A	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,386,259 (GRCm39)		probably benign	Het
Cdk12	T	C	11: 98,120,935 (GRCm39)		probably benign	Het
Clec4a3	A	G	6: 122,930,993 (GRCm39)		probably null	Het
Cpne2	T	A	8: 95,274,970 (GRCm39)		probably benign	Het
Cyfip1	T	C	7: 55,573,710 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,675,009 (GRCm39)	H110R	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Defb43	T	A	14: 63,249,287 (GRCm39)	V10D	probably damaging	Het
Dhx36	G	A	3: 62,401,162 (GRCm39)	S368L	possibly damaging	Het
Dock6	G	A	9: 21,715,923 (GRCm39)		probably benign	Het
Elp2	T	C	18: 24,745,499 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,249 (GRCm39)	L453P	probably damaging	Het
Eml6	A	T	11: 29,755,065 (GRCm39)	D903E	probably benign	Het
Ep300	T	C	15: 81,500,335 (GRCm39)		probably benign	Het
Ep400	G	A	5: 110,836,062 (GRCm39)	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Fbxo42	G	A	4: 140,922,550 (GRCm39)	V239M	probably damaging	Het
Fermt2	T	C	14: 45,706,776 (GRCm39)	D340G	probably benign	Het
Filip1	A	T	9: 79,726,672 (GRCm39)	V649E	probably damaging	Het
Fut8	G	A	12: 77,521,791 (GRCm39)	E477K	probably damaging	Het
Gbp3	G	A	3: 142,271,151 (GRCm39)	G185D	probably benign	Het
Gclc	G	T	9: 77,694,080 (GRCm39)	D345Y	probably damaging	Het
Gfus	A	G	15: 75,800,807 (GRCm39)	V27A	possibly damaging	Het
Gkn2	A	G	6: 87,352,800 (GRCm39)	D43G	possibly damaging	Het
Gnptab	A	G	10: 88,279,166 (GRCm39)		probably benign	Het
Greb1l	C	T	18: 10,474,303 (GRCm39)	T206I	probably damaging	Het
Grk4	A	G	5: 34,905,611 (GRCm39)	N452S	probably benign	Het
Hcn2	G	C	10: 79,570,066 (GRCm39)		probably null	Het
Hpn	T	C	7: 30,808,585 (GRCm39)	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,280,591 (GRCm39)	D3268G	probably damaging	Het
Immt	A	T	6: 71,848,541 (GRCm39)	Q467L	possibly damaging	Het
Kalrn	T	C	16: 33,936,778 (GRCm39)	S1636G	probably benign	Het
Kcnh8	T	A	17: 53,285,141 (GRCm39)	L1037*	probably null	Het
Klhl33	T	C	14: 51,129,851 (GRCm39)	T548A	probably damaging	Het
Klri2	T	C	6: 129,717,171 (GRCm39)	I71V	probably benign	Het
Kmt2c	A	T	5: 25,609,363 (GRCm39)	C254S	probably damaging	Het
Lama3	T	C	18: 12,610,647 (GRCm39)	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,172,350 (GRCm39)	Q1702R	probably damaging	Het
Mga	A	T	2: 119,750,391 (GRCm39)		probably null	Het
Mis18a	A	T	16: 90,517,561 (GRCm39)	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,335,254 (GRCm39)	D83G	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,531,282 (GRCm39)		probably benign	Het
Mrrf	C	T	2: 36,043,710 (GRCm39)	A149V	probably benign	Het
Mycbp2	A	T	14: 103,432,024 (GRCm39)	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,840,632 (GRCm39)	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,964,780 (GRCm39)	I943T	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,299,758 (GRCm39)		probably null	Het
Ncor2	C	T	5: 125,126,451 (GRCm39)	A136T	probably benign	Het
Opa1	T	C	16: 29,421,025 (GRCm39)		probably benign	Het
Or13a25	A	G	7: 140,247,590 (GRCm39)	D123G	probably damaging	Het
Or5p59	C	A	7: 107,703,363 (GRCm39)	Y282*	probably null	Het
Or8b39	T	A	9: 37,996,423 (GRCm39)	M97K	possibly damaging	Het
Or9e1	T	A	11: 58,732,681 (GRCm39)	I247N	possibly damaging	Het
Pcdhb4	T	C	18: 37,440,795 (GRCm39)	M35T	probably benign	Het
Per3	T	C	4: 151,113,288 (GRCm39)	I347V	probably benign	Het
Pex13	G	A	11: 23,615,831 (GRCm39)	P5L	possibly damaging	Het
Phkb	T	A	8: 86,602,322 (GRCm39)	W38R	probably damaging	Het
Plekhf1	A	T	7: 37,920,826 (GRCm39)	D247E	probably benign	Het
Plxnb2	A	G	15: 89,042,184 (GRCm39)	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,635,194 (GRCm39)	H1344L	possibly damaging	Het
Potefam1	A	C	2: 111,034,482 (GRCm39)	V350G	possibly damaging	Het
Ptk7	T	G	17: 46,901,238 (GRCm39)	N196H	possibly damaging	Het
Rab27a	G	T	9: 72,982,715 (GRCm39)	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505 (GRCm39)	C82*	probably null	Het
Rccd1	A	T	7: 79,969,965 (GRCm39)		probably benign	Het
Riiad1	T	C	3: 94,379,546 (GRCm39)	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,342,507 (GRCm39)	E77G	probably damaging	Het
Rnf126	A	T	10: 79,597,441 (GRCm39)	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,391,925 (GRCm39)	R623G	probably benign	Het
Rpusd1	T	G	17: 25,947,498 (GRCm39)	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,570,600 (GRCm39)		probably null	Het
Scfd1	A	T	12: 51,459,411 (GRCm39)	Q324L	probably benign	Het
Skint3	G	T	4: 112,112,974 (GRCm39)	E195*	probably null	Het
Slc7a10	A	T	7: 34,896,758 (GRCm39)	T165S	probably benign	Het
Smagp	A	G	15: 100,519,733 (GRCm39)	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,367,340 (GRCm39)	H172R	probably damaging	Het
Spast	A	G	17: 74,646,446 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,325 (GRCm39)		probably benign	Het
Ston2	C	T	12: 91,707,240 (GRCm39)		probably null	Het
Tas2r103	T	G	6: 133,013,313 (GRCm39)	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,104,558 (GRCm39)		probably benign	Het
Telo2	G	A	17: 25,332,139 (GRCm39)	P143L	probably benign	Het
Tgfbi	A	T	13: 56,786,539 (GRCm39)	Y674F	probably null	Het
Tha1	T	A	11: 117,763,983 (GRCm39)		probably benign	Het
Timp4	T	A	6: 115,226,814 (GRCm39)	S110C	probably damaging	Het
Tlr6	T	C	5: 65,111,935 (GRCm39)	K324R	probably benign	Het
Tnip3	A	G	6: 65,574,347 (GRCm39)	E137G	probably damaging	Het
Top6bl	A	G	19: 4,676,216 (GRCm39)	S639P	probably damaging	Het
Trak1	T	C	9: 121,278,021 (GRCm39)		probably null	Het
Trim47	A	G	11: 115,999,178 (GRCm39)	S233P	probably benign	Het
Tspoap1	A	T	11: 87,653,635 (GRCm39)	E155V	probably damaging	Het
Uggt1	A	T	1: 36,194,209 (GRCm39)	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,642,452 (GRCm39)	S117P	probably benign	Het
Vmn1r124	A	T	7: 20,994,436 (GRCm39)	V36D	probably damaging	Het
Wdr27	T	C	17: 15,148,658 (GRCm39)	T112A	probably benign	Het
Wdr90	T	C	17: 26,065,367 (GRCm39)	T1630A	probably benign	Het
Zfp352	A	G	4: 90,112,156 (GRCm39)	T99A	probably benign	Het

Other mutations in Atp8b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Atp8b5	APN	4	43,355,567 (GRCm39)	missense	probably damaging	1.00
IGL00970:Atp8b5	APN	4	43,311,938 (GRCm39)	missense	probably benign	0.01
IGL01335:Atp8b5	APN	4	43,302,628 (GRCm39)	missense	possibly damaging	0.90
IGL01462:Atp8b5	APN	4	43,368,010 (GRCm39)	missense	possibly damaging	0.90
IGL01657:Atp8b5	APN	4	43,291,693 (GRCm39)	missense	probably benign	0.04
IGL01935:Atp8b5	APN	4	43,366,638 (GRCm39)	missense	probably benign	0.03
IGL01977:Atp8b5	APN	4	43,320,590 (GRCm39)	critical splice acceptor site	probably null
IGL02102:Atp8b5	APN	4	43,364,167 (GRCm39)	missense	probably benign	0.10
IGL02369:Atp8b5	APN	4	43,334,205 (GRCm39)	missense	probably benign
IGL02456:Atp8b5	APN	4	43,365,578 (GRCm39)	missense	probably benign	0.16
IGL02696:Atp8b5	APN	4	43,369,634 (GRCm39)	missense	possibly damaging	0.61
IGL02826:Atp8b5	APN	4	43,366,770 (GRCm39)	missense	probably damaging	1.00
IGL02947:Atp8b5	APN	4	43,305,774 (GRCm39)	missense	possibly damaging	0.49
R0128:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0130:Atp8b5	UTSW	4	43,369,715 (GRCm39)	critical splice donor site	probably null
R0243:Atp8b5	UTSW	4	43,366,057 (GRCm39)	missense	probably benign
R0256:Atp8b5	UTSW	4	43,302,576 (GRCm39)	intron	probably benign
R0379:Atp8b5	UTSW	4	43,361,898 (GRCm39)	missense	probably damaging	0.99
R1109:Atp8b5	UTSW	4	43,305,719 (GRCm39)	intron	probably benign
R1442:Atp8b5	UTSW	4	43,334,313 (GRCm39)	missense	probably damaging	0.99
R1454:Atp8b5	UTSW	4	43,302,590 (GRCm39)	missense	probably benign
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1469:Atp8b5	UTSW	4	43,291,733 (GRCm39)	critical splice donor site	probably null
R1503:Atp8b5	UTSW	4	43,344,430 (GRCm39)	missense	probably damaging	1.00
R1580:Atp8b5	UTSW	4	43,355,673 (GRCm39)	missense	possibly damaging	0.49
R1677:Atp8b5	UTSW	4	43,372,903 (GRCm39)	missense	possibly damaging	0.61
R1861:Atp8b5	UTSW	4	43,372,906 (GRCm39)	missense	probably damaging	1.00
R1899:Atp8b5	UTSW	4	43,361,804 (GRCm39)	missense	possibly damaging	0.47
R1903:Atp8b5	UTSW	4	43,357,063 (GRCm39)	missense	probably damaging	0.98
R1961:Atp8b5	UTSW	4	43,369,688 (GRCm39)	missense	probably damaging	0.98
R2131:Atp8b5	UTSW	4	43,370,726 (GRCm39)	missense	probably benign	0.33
R2971:Atp8b5	UTSW	4	43,361,953 (GRCm39)	splice site	probably benign
R3023:Atp8b5	UTSW	4	43,311,957 (GRCm39)	missense	possibly damaging	0.82
R3433:Atp8b5	UTSW	4	43,372,697 (GRCm39)	missense	probably benign
R3690:Atp8b5	UTSW	4	43,368,055 (GRCm39)	missense	probably damaging	1.00
R4157:Atp8b5	UTSW	4	43,365,591 (GRCm39)	missense	probably damaging	0.97
R4484:Atp8b5	UTSW	4	43,357,016 (GRCm39)	missense	probably damaging	1.00
R4510:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4511:Atp8b5	UTSW	4	43,320,629 (GRCm39)	missense	probably damaging	1.00
R4679:Atp8b5	UTSW	4	43,365,955 (GRCm39)	missense	probably benign	0.16
R4753:Atp8b5	UTSW	4	43,372,710 (GRCm39)	missense	probably damaging	1.00
R4761:Atp8b5	UTSW	4	43,308,504 (GRCm39)	makesense	probably null
R4784:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4785:Atp8b5	UTSW	4	43,356,980 (GRCm39)	missense	probably damaging	0.97
R4855:Atp8b5	UTSW	4	43,344,449 (GRCm39)	missense	probably benign
R5422:Atp8b5	UTSW	4	43,366,644 (GRCm39)	missense	probably benign	0.10
R5915:Atp8b5	UTSW	4	43,370,577 (GRCm39)	missense	probably damaging	1.00
R6228:Atp8b5	UTSW	4	43,304,674 (GRCm39)	missense	probably damaging	1.00
R6496:Atp8b5	UTSW	4	43,371,003 (GRCm39)	missense	probably benign	0.03
R6708:Atp8b5	UTSW	4	43,334,249 (GRCm39)	missense	probably benign
R6931:Atp8b5	UTSW	4	43,364,108 (GRCm39)	critical splice acceptor site	probably null
R7021:Atp8b5	UTSW	4	43,355,618 (GRCm39)	missense	probably damaging	0.99
R7085:Atp8b5	UTSW	4	43,361,835 (GRCm39)	missense	probably damaging	1.00
R7207:Atp8b5	UTSW	4	43,357,018 (GRCm39)	missense	probably damaging	0.97
R7404:Atp8b5	UTSW	4	43,342,640 (GRCm39)	missense	probably benign	0.10
R7448:Atp8b5	UTSW	4	43,366,021 (GRCm39)	missense	probably benign
R7465:Atp8b5	UTSW	4	43,271,269 (GRCm39)	missense	probably benign	0.00
R7526:Atp8b5	UTSW	4	43,366,609 (GRCm39)	missense	probably damaging	0.99
R7616:Atp8b5	UTSW	4	43,370,823 (GRCm39)	critical splice donor site	probably null
R7698:Atp8b5	UTSW	4	43,366,735 (GRCm39)	missense	probably benign	0.27
R7883:Atp8b5	UTSW	4	43,342,471 (GRCm39)	missense	probably damaging	0.99
R8052:Atp8b5	UTSW	4	43,356,982 (GRCm39)	nonsense	probably null
R8218:Atp8b5	UTSW	4	43,372,728 (GRCm39)	critical splice donor site	probably null
R8248:Atp8b5	UTSW	4	43,366,072 (GRCm39)	missense	probably damaging	0.97
R8345:Atp8b5	UTSW	4	43,291,714 (GRCm39)	missense	probably benign	0.01
R8756:Atp8b5	UTSW	4	43,342,439 (GRCm39)	missense	probably damaging	0.98
R8888:Atp8b5	UTSW	4	43,304,687 (GRCm39)	missense
R8942:Atp8b5	UTSW	4	43,353,658 (GRCm39)	missense	probably damaging	1.00
R9153:Atp8b5	UTSW	4	43,308,493 (GRCm39)	utr 3 prime	probably benign
R9154:Atp8b5	UTSW	4	43,372,630 (GRCm39)	missense	probably benign	0.19
R9211:Atp8b5	UTSW	4	43,367,960 (GRCm39)	missense	probably damaging	0.97
R9361:Atp8b5	UTSW	4	43,369,658 (GRCm39)	missense	possibly damaging	0.80
R9786:Atp8b5	UTSW	4	43,305,798 (GRCm39)	missense	probably damaging	0.97
X0025:Atp8b5	UTSW	4	43,366,774 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp8b5	UTSW	4	43,361,903 (GRCm39)	missense	probably benign	0.40
Z1177:Atp8b5	UTSW	4	43,370,669 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ACTAGAGTCATCTATATGCTGTCCCGAC -3'
(R):5'- TGCTTGCACACAGGAGAACACAC -3'

Sequencing Primer
(F):5'- gcttcttgatgctttgttgcc -3'
(R):5'- acacacaaacacacacacatac -3'

Posted On

2013-07-30