Mutagenetix > Incidental Mutation

Incidental Mutation 'R6852:Ampd3'

535028

Institutional Source

Beutler Lab

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

MMRRC Submission

045023-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6852 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110367413-110411612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110401753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 416 (F416L)

Ref Sequence

ENSEMBL: ENSMUSP00000130495 (fasta)

Gene Model

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

AlphaFold

O08739

Predicted Effect

probably benign
Transcript: ENSMUST00000005829
AA Change: F416L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: F416L

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: ENSMUST00000170374
AA Change: F416L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: F416L

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

probably benign
Transcript: ENSMUST00000213373
AA Change: F425L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,770,930 (GRCm39)	Q40*	probably null	Het
1700034E13Rik	T	C	18: 52,796,705 (GRCm39)	V81A	probably damaging	Het
A630089N07Rik	A	G	16: 97,866,855 (GRCm39)	I369T	probably benign	Het
Aatk	T	A	11: 119,901,294 (GRCm39)	Q977L	probably benign	Het
Abca4	A	T	3: 121,928,844 (GRCm39)	Q144H	probably damaging	Het
Anks1b	A	G	10: 90,096,516 (GRCm39)	E425G	probably damaging	Het
Atm	A	G	9: 53,393,730 (GRCm39)	S1737P	possibly damaging	Het
Bsph1	T	A	7: 13,204,255 (GRCm39)		probably null	Het
Cabyr	C	T	18: 12,887,154 (GRCm39)	P262S	probably benign	Het
Cdc14a	G	A	3: 116,122,325 (GRCm39)	P214L	possibly damaging	Het
Cep128	C	A	12: 91,333,116 (GRCm39)		probably null	Het
Cfh	T	A	1: 140,075,487 (GRCm39)	R250S	probably damaging	Het
Ddx39a	T	C	8: 84,449,646 (GRCm39)	I417T	probably benign	Het
Dgka	T	A	10: 128,558,408 (GRCm39)	K548M	probably damaging	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Elapor1	T	C	3: 108,389,654 (GRCm39)	E203G	probably damaging	Het
Epg5	C	T	18: 78,056,106 (GRCm39)	T1760I	probably damaging	Het
Fat1	T	C	8: 45,488,635 (GRCm39)	V3472A	possibly damaging	Het
Fbxo48	T	A	11: 16,903,402 (GRCm39)	N9K	probably benign	Het
Fcgbpl1	T	A	7: 27,846,560 (GRCm39)	I1084N	probably damaging	Het
Fer1l6	A	T	15: 58,466,727 (GRCm39)	H833L	probably damaging	Het
Foxn1	G	T	11: 78,251,786 (GRCm39)	Q482K	probably benign	Het
Fstl5	A	G	3: 76,615,162 (GRCm39)	D741G	probably damaging	Het
Gmip	C	T	8: 70,270,641 (GRCm39)	Q55*	probably null	Het
H2-T5	T	C	17: 36,478,965 (GRCm39)	N95D	possibly damaging	Het
Hapln2	G	A	3: 87,929,958 (GRCm39)	T306M	possibly damaging	Het
Kat6a	T	A	8: 23,428,676 (GRCm39)	S1344T	probably benign	Het
Kctd1	C	T	18: 15,119,401 (GRCm39)	D705N	possibly damaging	Het
Lhx9	ACC	ACCC	1: 138,769,544 (GRCm39)		probably null	Het
Micall2	G	T	5: 139,701,548 (GRCm39)	A482D	possibly damaging	Het
Mindy3	T	A	2: 12,424,063 (GRCm39)	M1L	possibly damaging	Het
Mtdh	A	G	15: 34,136,867 (GRCm39)	E352G	probably damaging	Het
Muc5ac	G	A	7: 141,370,644 (GRCm39)	V3219I	probably benign	Het
Myh4	A	G	11: 67,143,794 (GRCm39)		probably null	Het
Ncor1	A	G	11: 62,234,071 (GRCm39)	I377T	probably damaging	Het
Oog4	C	A	4: 143,165,679 (GRCm39)	C156F	possibly damaging	Het
Or5m9	A	T	2: 85,876,948 (GRCm39)	I41F	probably benign	Het
Pcyt1a	T	C	16: 32,288,938 (GRCm39)	S260P	probably damaging	Het
Phf3	A	T	1: 30,843,711 (GRCm39)	F1749L	probably damaging	Het
Prickle2	T	C	6: 92,353,525 (GRCm39)	D647G	probably benign	Het
Raver2	T	C	4: 100,990,787 (GRCm39)	S387P	probably benign	Het
Relch	T	C	1: 105,681,320 (GRCm39)	L1184P	probably damaging	Het
Rgs19	A	G	2: 181,330,941 (GRCm39)	S231P	possibly damaging	Het
Rpl8	G	T	15: 76,790,149 (GRCm39)	R198L	probably benign	Het
Sacs	T	A	14: 61,416,737 (GRCm39)	S77T	possibly damaging	Het
Samd14	G	A	11: 94,912,280 (GRCm39)	G219D	probably damaging	Het
Sec16a	C	T	2: 26,331,431 (GRCm39)	V195M	probably damaging	Het
Sesn2	C	T	4: 132,221,113 (GRCm39)	V453I	possibly damaging	Het
Slc46a3	A	T	5: 147,822,970 (GRCm39)	C291S	probably damaging	Het
Smarcal1	A	G	1: 72,630,332 (GRCm39)	T129A	possibly damaging	Het
Sorl1	T	A	9: 41,935,694 (GRCm39)	R1041W	possibly damaging	Het
Sptlc3	T	C	2: 139,408,506 (GRCm39)	I207T	probably benign	Het
Srgap3	T	C	6: 112,793,622 (GRCm39)	D118G	probably damaging	Het
Tas2r117	T	A	6: 132,779,892 (GRCm39)	V10D	probably benign	Het
Tbcd	A	G	11: 121,500,206 (GRCm39)	K1111E	probably benign	Het
Tor1aip1	A	T	1: 155,911,566 (GRCm39)	L139Q	probably damaging	Het
Trbv23	T	C	6: 41,193,181 (GRCm39)	V23A	probably damaging	Het
Ttll3	AAGTA	AAGTATAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttll3	GGCAAAG	GGCAAAGCAAAG	6: 113,376,116 (GRCm39)		probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r42	T	G	6: 89,821,769 (GRCm39)	T267P	possibly damaging	Het
Vmn2r53	C	A	7: 12,340,441 (GRCm39)	V11F	probably damaging	Het
Vmn2r67	T	C	7: 84,801,361 (GRCm39)	M192V	probably damaging	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Zdhhc1	C	T	8: 106,203,704 (GRCm39)	G156S	possibly damaging	Het
Zfp318	AGAAG	AGAAGAGGAAG	17: 46,723,464 (GRCm39)		probably benign	Het
Zfp318	GAAGAA	GAAGAAAAAGAA	17: 46,723,459 (GRCm39)		probably benign	Het
Zfp318	AAGAAG	AAGAAGTAGAAG	17: 46,723,460 (GRCm39)		probably benign	Het
Zfp560	A	G	9: 20,259,339 (GRCm39)	C508R	probably damaging	Het
Zfp654	G	A	16: 64,606,961 (GRCm39)	L414F	probably damaging	Het
Zfp872	A	T	9: 22,111,355 (GRCm39)	Y278F	probably damaging	Het
Zscan20	T	C	4: 128,483,515 (GRCm39)	S385G	probably damaging	Het

Other mutations in Ampd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Ampd3	APN	7	110,402,354 (GRCm39)	missense	probably benign	0.01
IGL00576:Ampd3	APN	7	110,388,028 (GRCm39)	splice site	probably benign
IGL00805:Ampd3	APN	7	110,409,072 (GRCm39)	missense	possibly damaging	0.78
IGL01486:Ampd3	APN	7	110,409,123 (GRCm39)	splice site	probably benign
IGL01551:Ampd3	APN	7	110,404,183 (GRCm39)	missense	probably damaging	1.00
IGL02088:Ampd3	APN	7	110,392,893 (GRCm39)	missense	probably benign	0.00
IGL02123:Ampd3	APN	7	110,401,766 (GRCm39)	missense	possibly damaging	0.91
IGL02605:Ampd3	APN	7	110,394,965 (GRCm39)	missense	probably benign	0.00
IGL02990:Ampd3	APN	7	110,407,170 (GRCm39)	splice site	probably benign
carson	UTSW	7	110,399,917 (GRCm39)	missense	probably damaging	1.00
commanche	UTSW	7	110,407,078 (GRCm39)	missense	possibly damaging	0.95
guangdong	UTSW	7	110,402,369 (GRCm39)	missense	probably damaging	1.00
macao	UTSW	7	110,402,346 (GRCm39)	missense	probably damaging	1.00
penasco	UTSW	7	110,402,433 (GRCm39)	missense	probably damaging	1.00
taos	UTSW	7	110,404,142 (GRCm39)	missense	probably damaging	0.99
R0025:Ampd3	UTSW	7	110,392,876 (GRCm39)	missense	probably benign	0.04
R0025:Ampd3	UTSW	7	110,392,876 (GRCm39)	missense	probably benign	0.04
R0608:Ampd3	UTSW	7	110,394,998 (GRCm39)	missense	probably damaging	1.00
R0608:Ampd3	UTSW	7	110,394,997 (GRCm39)	missense	probably damaging	1.00
R0718:Ampd3	UTSW	7	110,377,015 (GRCm39)	missense	probably damaging	1.00
R0799:Ampd3	UTSW	7	110,399,904 (GRCm39)	missense	probably damaging	1.00
R1053:Ampd3	UTSW	7	110,387,887 (GRCm39)	missense	probably damaging	1.00
R1473:Ampd3	UTSW	7	110,404,142 (GRCm39)	missense	probably damaging	0.99
R1676:Ampd3	UTSW	7	110,394,940 (GRCm39)	missense	probably damaging	1.00
R1977:Ampd3	UTSW	7	110,402,369 (GRCm39)	missense	probably damaging	1.00
R2380:Ampd3	UTSW	7	110,399,917 (GRCm39)	missense	probably damaging	1.00
R2419:Ampd3	UTSW	7	110,367,576 (GRCm39)	unclassified	probably benign
R3438:Ampd3	UTSW	7	110,402,433 (GRCm39)	missense	probably damaging	1.00
R3907:Ampd3	UTSW	7	110,392,877 (GRCm39)	missense	possibly damaging	0.88
R5367:Ampd3	UTSW	7	110,407,078 (GRCm39)	missense	possibly damaging	0.95
R5625:Ampd3	UTSW	7	110,401,730 (GRCm39)	missense	probably damaging	0.97
R6066:Ampd3	UTSW	7	110,392,974 (GRCm39)	missense	probably benign	0.12
R6267:Ampd3	UTSW	7	110,390,387 (GRCm39)	splice site	probably null
R6493:Ampd3	UTSW	7	110,395,018 (GRCm39)	splice site	probably null
R7147:Ampd3	UTSW	7	110,404,059 (GRCm39)	missense	probably damaging	1.00
R7313:Ampd3	UTSW	7	110,405,261 (GRCm39)	missense	probably damaging	1.00
R7649:Ampd3	UTSW	7	110,377,049 (GRCm39)	missense	probably benign	0.01
R7843:Ampd3	UTSW	7	110,390,395 (GRCm39)	missense	probably benign	0.01
R7946:Ampd3	UTSW	7	110,377,147 (GRCm39)	missense	probably damaging	1.00
R8319:Ampd3	UTSW	7	110,394,982 (GRCm39)	missense	probably benign	0.01
R8377:Ampd3	UTSW	7	110,399,937 (GRCm39)	missense	probably damaging	1.00
R9202:Ampd3	UTSW	7	110,402,346 (GRCm39)	missense	probably damaging	1.00
R9498:Ampd3	UTSW	7	110,409,053 (GRCm39)	missense	probably damaging	1.00
R9623:Ampd3	UTSW	7	110,402,307 (GRCm39)	missense	probably damaging	1.00
R9720:Ampd3	UTSW	7	110,377,056 (GRCm39)	missense	probably benign
Z1088:Ampd3	UTSW	7	110,377,032 (GRCm39)	missense	probably damaging	1.00
Z1177:Ampd3	UTSW	7	110,387,987 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACATATTAGGTAGCCGCATGG -3'
(R):5'- CAGGATGCTAGGAGCTCTTC -3'

Sequencing Primer
(F):5'- GAATTGTGATGCAGCCAGCC -3'
(R):5'- GGCCCACAGGACACACTTG -3'

Posted On

2018-09-12