Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Ampd3'

54408

Institutional Source

Beutler Lab

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0608 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

110367413-110411612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110394998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 316 (F316I)

Ref Sequence

ENSEMBL: ENSMUSP00000149655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000213373]

AlphaFold

O08739

Predicted Effect

probably damaging
Transcript: ENSMUST00000005829
AA Change: F307I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: F307I

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: ENSMUST00000106686

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

noncoding transcript
Transcript: ENSMUST00000148367

Predicted Effect

probably damaging
Transcript: ENSMUST00000170374
AA Change: F307I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: F307I

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: ENSMUST00000176487

Predicted Effect

probably damaging
Transcript: ENSMUST00000213373
AA Change: F316I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,100,588 (GRCm39)		probably null	Het
Bckdhb	T	G	9: 83,835,789 (GRCm39)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,100,699 (GRCm39)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cep128	T	G	12: 90,966,309 (GRCm39)		probably benign	Het
Cep72	A	T	13: 74,186,423 (GRCm39)	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,012,364 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah17	G	T	11: 117,981,575 (GRCm39)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,225,836 (GRCm39)	E383G	possibly damaging	Het
Dst	C	A	1: 34,329,437 (GRCm39)		probably null	Het
Edil3	T	C	13: 89,332,968 (GRCm39)	S375P	probably damaging	Het
Eme1	A	G	11: 94,540,908 (GRCm39)	C277R	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,420,953 (GRCm39)	V341M	probably benign	Het
Fgf14	A	G	14: 124,914,015 (GRCm39)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,631,220 (GRCm39)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,830,240 (GRCm39)	D265E	probably benign	Het
Gml2	T	C	15: 74,693,235 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,736,692 (GRCm39)	E1980*	probably null	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Heca	T	C	10: 17,791,039 (GRCm39)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm39)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,733,678 (GRCm39)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,597,030 (GRCm39)	G252D	probably benign	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,924,137 (GRCm39)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,316,587 (GRCm39)	N2131K	probably benign	Het
Magi3	C	G	3: 103,924,873 (GRCm39)	G1092A	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mrps26	G	T	2: 130,405,778 (GRCm39)	R27L	possibly damaging	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,344,908 (GRCm39)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Neb	A	T	2: 52,216,769 (GRCm39)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,503,399 (GRCm39)	Q502*	probably null	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Obi1	T	C	14: 104,716,963 (GRCm39)	Y470C	probably damaging	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,330,246 (GRCm39)	P48L	probably benign	Het
Rab44	T	A	17: 29,366,317 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,329,720 (GRCm39)	I3031T	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 98,998,601 (GRCm39)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,799,346 (GRCm39)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spire1	T	C	18: 67,661,945 (GRCm39)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Susd2	C	T	10: 75,474,069 (GRCm39)	A509T	probably benign	Het
Sycp2	A	G	2: 178,024,197 (GRCm39)	F396L	probably damaging	Het
Syne2	T	C	12: 76,010,587 (GRCm39)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tab2	C	T	10: 7,795,883 (GRCm39)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,148,317 (GRCm39)	T363A	probably damaging	Het
Terb2	A	G	2: 122,016,816 (GRCm39)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,510,552 (GRCm39)	E137G	probably benign	Het
Trim30d	T	A	7: 104,121,692 (GRCm39)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,054,669 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,617,667 (GRCm39)	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,626,529 (GRCm39)		probably null	Het
Ubap2	T	A	4: 41,218,319 (GRCm39)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,886,138 (GRCm39)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,965,615 (GRCm39)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,180,867 (GRCm39)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,297,705 (GRCm39)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,629,078 (GRCm39)		probably null	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	110,394,997 (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
R6852:Ampd3	UTSW	7	110,401,753 (GRCm39)	missense	probably benign	0.02
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'- ATGCTGTCAGAACCTGACCCTTCC -3'
(R):5'- AGTATCCGAGACAACCCGAGTCAAG -3'

Sequencing Primer
(F):5'- TCCAGCCCCGGTCACTAC -3'
(R):5'- GAGTCAAGGACACAGTCTGCC -3'

Posted On

2013-07-11