Mutagenetix > Incidental Mutation

Incidental Mutation 'R6267:Ampd3'

507077

Institutional Source

Beutler Lab

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

MMRRC Submission

044405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6267 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

110367413-110411612 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 110390387 bp (GRCm39)

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
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,414,860 (GRCm39)	T341A	probably damaging	Het
Acer2	T	C	4: 86,792,823 (GRCm39)	F33S	probably damaging	Het
Actr1b	A	G	1: 36,740,244 (GRCm39)	V299A	possibly damaging	Het
Atm	A	C	9: 53,355,300 (GRCm39)	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Chd2	T	C	7: 73,113,419 (GRCm39)	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,019,805 (GRCm39)	L544P	probably damaging	Het
Cryga	A	C	1: 65,142,169 (GRCm39)	S75A	probably benign	Het
Dcbld1	T	A	10: 52,195,576 (GRCm39)	Y261*	probably null	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dst	A	C	1: 34,267,753 (GRCm39)	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Eif4enif1	T	A	11: 3,177,793 (GRCm39)	V395E	probably damaging	Het
Enox1	A	G	14: 77,815,204 (GRCm39)	T121A	probably damaging	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,355,631 (GRCm39)	G448E	probably damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Garnl3	T	C	2: 32,994,892 (GRCm39)	D39G	probably benign	Het
Gm14295	C	T	2: 176,500,782 (GRCm39)	Q91*	probably null	Het
Grb10	T	A	11: 11,920,639 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Herc2	T	A	7: 55,802,914 (GRCm39)	C2112*	probably null	Het
Herc2	T	G	7: 55,854,466 (GRCm39)	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,976,083 (GRCm39)	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lingo4	G	A	3: 94,310,697 (GRCm39)	G545E	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Loricrin	C	A	3: 91,989,119 (GRCm39)	G56*	probably null	Het
Lrfn1	A	G	7: 28,159,169 (GRCm39)	R363G	probably benign	Het
Lrp1b	T	C	2: 40,547,537 (GRCm39)	D446G	probably benign	Het
Ltbp1	G	T	17: 75,312,984 (GRCm39)	G35V	possibly damaging	Het
Magel2	G	A	7: 62,028,427 (GRCm39)	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Ms4a7	A	T	19: 11,310,659 (GRCm39)	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,750,062 (GRCm39)	Y173C	probably damaging	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 152,952,717 (GRCm39)	H102L	probably damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or52x1	G	A	7: 104,852,599 (GRCm39)	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pcnt	A	G	10: 76,221,632 (GRCm39)	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,160,522 (GRCm39)	L781P	probably damaging	Het
Prdm14	A	T	1: 13,189,160 (GRCm39)	C395S	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rorb	C	A	19: 18,955,221 (GRCm39)	V47L	possibly damaging	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162 (GRCm39)	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Slc52a3	G	T	2: 151,849,529 (GRCm39)		probably null	Het
Smco1	A	T	16: 32,092,832 (GRCm39)	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Tmem225	T	A	9: 40,059,731 (GRCm39)	I37N	probably damaging	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Usp16	A	G	16: 87,280,079 (GRCm39)	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,084,221 (GRCm39)	*308C	probably null	Het
Vmn2r45	A	G	7: 8,475,207 (GRCm39)	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,578,059 (GRCm39)		probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	possibly 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
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'- ATCAGCATCCTTGGGACCAAC -3'
(R):5'- CCAAGACTTCATACCTGGGAGAC -3'

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

Posted On

2018-03-15