Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Ampd3'

165924

Institutional Source

Beutler Lab

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110768206-110812405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110804935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 564 (S564R)

Ref Sequence

ENSEMBL: ENSMUSP00000149655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000170374] [ENSMUST00000213373]

AlphaFold

O08739

Predicted Effect

probably damaging
Transcript: ENSMUST00000005829
AA Change: S555R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: S555R

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	309	716	1.5e-139	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148367

Predicted Effect

probably damaging
Transcript: ENSMUST00000170374
AA Change: S555R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: S555R

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	309	716	7.6e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195971

Predicted Effect

probably damaging
Transcript: ENSMUST00000213373
AA Change: S564R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

MGI Phenotype

FUNCTION: This gene encodes a member of the adenosine and AMP deaminases family. The encoded protein is an AMP deaminase involved in nucleotide and energy metabolism in erythrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743	Y1102F	probably damaging	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Ampd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Ampd3	APN	7	110803147	missense	probably benign	0.01
IGL00576:Ampd3	APN	7	110788821	splice site	probably benign
IGL00805:Ampd3	APN	7	110809865	missense	possibly damaging	0.78
IGL01486:Ampd3	APN	7	110809916	splice site	probably benign
IGL01551:Ampd3	APN	7	110804976	missense	probably damaging	1.00
IGL02088:Ampd3	APN	7	110793686	missense	probably benign	0.00
IGL02123:Ampd3	APN	7	110802559	missense	possibly damaging	0.91
IGL02605:Ampd3	APN	7	110795758	missense	probably benign	0.00
IGL02990:Ampd3	APN	7	110807963	splice site	probably benign
carson	UTSW	7	110800710	missense	probably damaging	1.00
commanche	UTSW	7	110807871	missense	possibly damaging	0.95
guangdong	UTSW	7	110803162	missense	probably damaging	1.00
macao	UTSW	7	110803139	missense	probably damaging	1.00
penasco	UTSW	7	110803226	missense	probably damaging	1.00
taos	UTSW	7	110804935	missense	probably damaging	0.99
R0025:Ampd3	UTSW	7	110793669	missense	probably benign	0.04
R0025:Ampd3	UTSW	7	110793669	missense	probably benign	0.04
R0608:Ampd3	UTSW	7	110795790	missense	probably damaging	1.00
R0608:Ampd3	UTSW	7	110795791	missense	probably damaging	1.00
R0718:Ampd3	UTSW	7	110777808	missense	probably damaging	1.00
R0799:Ampd3	UTSW	7	110800697	missense	probably damaging	1.00
R1053:Ampd3	UTSW	7	110788680	missense	probably damaging	1.00
R1676:Ampd3	UTSW	7	110795733	missense	probably damaging	1.00
R1977:Ampd3	UTSW	7	110803162	missense	probably damaging	1.00
R2380:Ampd3	UTSW	7	110800710	missense	probably damaging	1.00
R2419:Ampd3	UTSW	7	110768369	unclassified	probably benign
R3438:Ampd3	UTSW	7	110803226	missense	probably damaging	1.00
R3907:Ampd3	UTSW	7	110793670	missense	possibly damaging	0.88
R5367:Ampd3	UTSW	7	110807871	missense	possibly damaging	0.95
R5625:Ampd3	UTSW	7	110802523	missense	probably damaging	0.97
R6066:Ampd3	UTSW	7	110793767	missense	probably benign	0.12
R6267:Ampd3	UTSW	7	110791180	splice site	probably null
R6493:Ampd3	UTSW	7	110795811	splice site	probably null
R6852:Ampd3	UTSW	7	110802546	missense	probably benign	0.02
R7147:Ampd3	UTSW	7	110804852	missense	probably damaging	1.00
R7313:Ampd3	UTSW	7	110806054	missense	probably damaging	1.00
R7649:Ampd3	UTSW	7	110777842	missense	probably benign	0.01
R7843:Ampd3	UTSW	7	110791188	missense	probably benign	0.01
R7946:Ampd3	UTSW	7	110777940	missense	probably damaging	1.00
R8319:Ampd3	UTSW	7	110795775	missense	probably benign	0.01
R8377:Ampd3	UTSW	7	110800730	missense	probably damaging	1.00
R9202:Ampd3	UTSW	7	110803139	missense	probably damaging	1.00
R9498:Ampd3	UTSW	7	110809846	missense	probably damaging	1.00
R9623:Ampd3	UTSW	7	110803100	missense	probably damaging	1.00
R9720:Ampd3	UTSW	7	110777849	missense	probably benign
Z1088:Ampd3	UTSW	7	110777825	missense	probably damaging	1.00
Z1177:Ampd3	UTSW	7	110788780	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGAGTCCCGGATTATCCTGCC -3'
(R):5'- TGGGAGACCACCCTAAGACTTATGC -3'

Sequencing Primer
(F):5'- CCTGGCTCAGTGTCAGAATC -3'
(R):5'- TATAATAGCCCACATGGTCTGCG -3'

Posted On

2014-03-28