Mutagenetix > Incidental Mutations

Incidental Mutation 'R6267:Ampd3'

507077

Institutional Source

Beutler Lab

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6267 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

110768206-110812405 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110791180 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000005829] [ENSMUST00000143786] [ENSMUST00000147587] [ENSMUST00000148292] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000170374] [ENSMUST00000213373] [ENSMUST00000213373]

AlphaFold

O08739

Predicted Effect

probably null
Transcript: ENSMUST00000005829

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686

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 null
Transcript: ENSMUST00000005829

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686

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: ENSMUST00000143786

SMART Domains

Protein: ENSMUSP00000120983
Gene: ENSMUSG00000005686

Domain	Start	End	E-Value	Type
low complexity region	107	119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147587

SMART Domains

Protein: ENSMUSP00000121238
Gene: ENSMUSG00000005686

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

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000170374

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686

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 null
Transcript: ENSMUST00000170374

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686

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

noncoding transcript
Transcript: ENSMUST00000176487

Predicted Effect

probably null
Transcript: ENSMUST00000213373

Predicted Effect

probably null
Transcript: ENSMUST00000213373

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,594,497	T341A	probably damaging	Het
Acer2	T	C	4: 86,874,586	F33S	probably damaging	Het
Actr1b	A	G	1: 36,701,163	V299A	possibly damaging	Het
Atm	A	C	9: 53,444,000	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Chd2	T	C	7: 73,463,671	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,129,793	L544P	probably damaging	Het
Cryga	A	C	1: 65,103,010	S75A	probably benign	Het
Dcbld1	T	A	10: 52,319,480	Y261*	probably null	Het
Ddx11	G	A	17: 66,150,729		probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dst	A	C	1: 34,228,672	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Eif4enif1	T	A	11: 3,227,793	V395E	probably damaging	Het
Enox1	A	G	14: 77,577,764	T121A	probably damaging	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,448,324	G448E	probably damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Garnl3	T	C	2: 33,104,880	D39G	probably benign	Het
Gm14295	C	T	2: 176,808,989	Q91*	probably null	Het
Grb10	T	A	11: 11,970,639		probably benign	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Herc2	T	A	7: 56,153,166	C2112*	probably null	Het
Herc2	T	G	7: 56,204,718	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,738,634	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lingo4	G	A	3: 94,403,390	G545E	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lor	C	A	3: 92,081,812	G56*	probably null	Het
Lrfn1	A	G	7: 28,459,744	R363G	probably benign	Het
Lrp1b	T	C	2: 40,657,525	D446G	probably benign	Het
Ltbp1	G	T	17: 75,005,989	G35V	possibly damaging	Het
Magel2	G	A	7: 62,378,679	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Ms4a7	A	T	19: 11,333,295	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,616,991	Y173C	probably damaging	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 153,076,971	H102L	probably damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr686	G	A	7: 105,203,392	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,819,503		probably null	Het
Pcnt	A	G	10: 76,385,798	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,110,522	L781P	probably damaging	Het
Prdm14	A	T	1: 13,118,936	C395S	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Pter	T	C	2: 12,978,541	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rorb	C	A	19: 18,977,857	V47L	possibly damaging	Het
Rtn4r	A	G	16: 18,151,182	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Slc52a3	G	T	2: 152,007,609		probably null	Het
Smco1	A	T	16: 32,274,014	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Tmem225	T	A	9: 40,148,435	I37N	probably damaging	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Usp16	A	G	16: 87,483,191	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,350,296	*308C	probably null	Het
Vmn2r45	A	G	7: 8,472,208	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,928,635		probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	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
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
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'- ATCAGCATCCTTGGGACCAAC -3'
(R):5'- CCAAGACTTCATACCTGGGAGAC -3'

Sequencing Primer
(F):5'- GACCACCTTCAGACTTTGAGATGTG -3'
(R):5'- GGAGACCCTCTTCCAAAGGC -3'

Posted On

2018-03-15