Mutagenetix > Incidental Mutations

Incidental Mutation 'R8319:Ampd3'

641858

Institutional Source

Beutler Lab

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110768206-110812405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110795775 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 301 (S301R)

Ref Sequence

ENSEMBL: ENSMUSP00000005829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000148292] [ENSMUST00000170374]

Predicted Effect

probably benign
Transcript: ENSMUST00000005829
AA Change: S301R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: S301R

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

probably benign
Transcript: ENSMUST00000148292

SMART Domains

Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170374
AA Change: S301R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: S301R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,672	D115E	probably benign	Het
Abcc1	T	A	16: 14,396,451	L197Q	probably damaging	Het
Adamts14	T	G	10: 61,221,927	N547T	probably benign	Het
Atg9a	G	A	1: 75,185,698	Q523*	probably null	Het
Atl1	A	T	12: 69,955,319	T351S	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Cacna1c	T	C	6: 118,637,774	I1315V		Het
Ccdc109b	A	G	3: 129,933,679	F93L	probably damaging	Het
Col12a1	C	T	9: 79,648,697	G2013R	probably damaging	Het
Cpne2	A	G	8: 94,553,412	D153G	probably benign	Het
Cryzl1	T	C	16: 91,692,363	S205G	probably benign	Het
Cux1	C	T	5: 136,565,397	A5T	probably benign	Het
Ddx60	T	C	8: 61,942,635		probably null	Het
Dnajc13	G	A	9: 104,190,391	P1190S	probably benign	Het
Fbxw7	T	A	3: 84,974,552	V526E		Het
Fig4	C	A	10: 41,263,101	G369C	probably damaging	Het
Gabra1	C	T	11: 42,135,488	A326T	probably damaging	Het
Gbe1	G	A	16: 70,488,076	G429S	probably benign	Het
Gm340	T	A	19: 41,582,904	S179T	probably damaging	Het
Gtf3c5	A	T	2: 28,570,494	H364Q	probably benign	Het
Hcfc2	T	A	10: 82,738,367	I125N	probably damaging	Het
Hnrnpul1	A	T	7: 25,754,477	D53E	probably benign	Het
Il18	A	T	9: 50,581,518	D128V	possibly damaging	Het
Intu	T	A	3: 40,653,772	S71R	probably damaging	Het
Klhl6	T	C	16: 19,957,190	E206G	possibly damaging	Het
Mdga2	T	C	12: 67,221,029	Y5C	unknown	Het
Naip1	C	A	13: 100,429,213	V354L	probably benign	Het
Naip5	A	G	13: 100,221,659	V1023A	probably benign	Het
Ndufaf1	A	G	2: 119,660,087	L166P	probably damaging	Het
Ninl	A	T	2: 150,959,907	L147H	probably damaging	Het
Olfr1259	A	G	2: 89,943,680	V145A	possibly damaging	Het
Olfr64	A	G	7: 103,893,429	I102T	probably damaging	Het
Otogl	C	T	10: 107,853,266		probably null	Het
Otulin	AT	ATT	15: 27,606,318		probably null	Het
Phf11b	A	C	14: 59,338,697	L30R	probably damaging	Het
Prdm13	G	T	4: 21,679,327	H388N	unknown	Het
Pwwp2b	T	C	7: 139,255,183	V180A	probably damaging	Het
Reep4	T	A	14: 70,546,511	S23T	probably damaging	Het
Rusc2	T	A	4: 43,425,378	L1161Q	probably damaging	Het
Scgb1b3	G	A	7: 31,375,979		probably null	Het
Scn10a	G	T	9: 119,670,389	N279K	probably benign	Het
Smurf2	A	G	11: 106,824,752	L643S	probably damaging	Het
Sox12	G	A	2: 152,397,272	P143S	unknown	Het
Specc1	C	T	11: 62,118,675	T339I	possibly damaging	Het
Tas2r139	T	C	6: 42,141,786	V284A	probably benign	Het
Thumpd3	T	A	6: 113,063,146	C330*	probably null	Het
Ttc26	T	A	6: 38,405,945	H338Q	probably damaging	Het
Ttn	A	G	2: 76,706,954	S34877P	possibly damaging	Het
Zfp568	T	C	7: 29,998,204	S104P	possibly damaging	Het
Zfp933	G	A	4: 147,828,453	H50Y	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
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
R1473:Ampd3	UTSW	7	110804935	missense	probably damaging	0.99
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
R8377:Ampd3	UTSW	7	110800730	missense	probably damaging	1.00
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'- TGGAAGCATCTCGGCTCTTC -3'
(R):5'- CAGGCATGTTTTATCACACAGGC -3'

Sequencing Primer
(F):5'- TCCATGCTGTCAGAACCTG -3'
(R):5'- ATGTTTTATCACACAGGCTACTCCAG -3'

Posted On

2020-07-28