Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Ampd1'

201591

Institutional Source

Beutler Lab

Gene Symbol

Ampd1

Ensembl Gene

ENSMUSG00000070385

Gene Name

adenosine monophosphate deaminase 1

Synonyms

Ampd-1

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103074014-103099720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103099126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 690 (I690N)

Ref Sequence

ENSEMBL: ENSMUSP00000088217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000173206]

AlphaFold

Q3V1D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090715
AA Change: I690N

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: I690N

Domain	Start	End	E-Value	Type
low complexity region	234	246	N/A	INTRINSIC
Pfam:A_deaminase	294	701	5.4e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155034

SMART Domains

Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385

Domain	Start	End	E-Value	Type
low complexity region	234	246	N/A	INTRINSIC
Pfam:A_deaminase	294	676	5.2e-103	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166143

Predicted Effect

probably benign
Transcript: ENSMUST00000173206

SMART Domains

Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379

Domain	Start	End	E-Value	Type
uDENN	424	514	1.01e-25	SMART
DENN	521	705	3.36e-77	SMART
dDENN	749	816	1.15e-20	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000177250
AA Change: I191N

SMART Domains

Protein: ENSMUSP00000134772
Gene: ENSMUSG00000070385
AA Change: I191N

Domain	Start	End	E-Value	Type
Pfam:A_deaminase	22	203	1.4e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199407

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115	G121D	probably benign	Het
Amy1	C	A	3: 113,558,165	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993		probably null	Het
Chrna5	T	C	9: 55,004,651	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305		probably null	Het
Col5a2	T	C	1: 45,394,776	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057		probably benign	Het
Grin3b	T	C	10: 79,973,408	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512		probably null	Het
Itgb8	T	C	12: 119,202,455	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074		probably benign	Het
L3mbtl1	A	G	2: 162,974,502	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Myo10	T	G	15: 25,726,525		probably null	Het
Myo1e	T	A	9: 70,338,784	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459		probably benign	Het
Spag17	T	A	3: 99,939,356	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488		probably benign	Het
Stil	T	A	4: 115,041,782	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246	Q478*	probably null	Het
Tg	A	T	15: 66,737,548	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435		probably null	Het
Zfp277	A	G	12: 40,364,085	F254L	probably benign	Het

Other mutations in Ampd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Ampd1	APN	3	103099694	missense	possibly damaging	0.64
IGL00909:Ampd1	APN	3	103088428	missense	probably benign	0.10
IGL01543:Ampd1	APN	3	103095713	missense	probably benign	0.00
IGL01743:Ampd1	APN	3	103094885	splice site	probably benign
IGL02390:Ampd1	APN	3	103079041	missense	probably benign	0.28
IGL02637:Ampd1	APN	3	103094883	splice site	probably benign
IGL02735:Ampd1	APN	3	103085377	missense	probably damaging	1.00
IGL03151:Ampd1	APN	3	103092470	splice site	probably null
twinkle_toes	UTSW	3	103095646	nonsense	probably null
R0158:Ampd1	UTSW	3	103091730	nonsense	probably null
R0441:Ampd1	UTSW	3	103088478	missense	probably benign	0.05
R0646:Ampd1	UTSW	3	103099597	missense	probably damaging	1.00
R1474:Ampd1	UTSW	3	103098838	missense	probably damaging	1.00
R1499:Ampd1	UTSW	3	103091664	missense	probably damaging	1.00
R2131:Ampd1	UTSW	3	103094878	critical splice donor site	probably null
R3706:Ampd1	UTSW	3	103088311	splice site	probably benign
R4007:Ampd1	UTSW	3	103092460	missense	probably damaging	0.99
R4169:Ampd1	UTSW	3	103094841	missense	probably damaging	1.00
R4525:Ampd1	UTSW	3	103094733	missense	probably damaging	1.00
R4828:Ampd1	UTSW	3	103081097	missense	probably damaging	1.00
R5015:Ampd1	UTSW	3	103099665	missense	possibly damaging	0.89
R5514:Ampd1	UTSW	3	103079172	missense	possibly damaging	0.50
R5839:Ampd1	UTSW	3	103085428	missense	possibly damaging	0.47
R5872:Ampd1	UTSW	3	103079130	missense	probably benign	0.00
R5890:Ampd1	UTSW	3	103090075	missense	probably damaging	1.00
R5986:Ampd1	UTSW	3	103085397	missense	probably damaging	1.00
R6272:Ampd1	UTSW	3	103085383	missense	possibly damaging	0.50
R6473:Ampd1	UTSW	3	103095646	nonsense	probably null
R6504:Ampd1	UTSW	3	103099595	missense	possibly damaging	0.90
R7051:Ampd1	UTSW	3	103090073	missense	probably damaging	1.00
R7323:Ampd1	UTSW	3	103085380	missense	probably benign
R7424:Ampd1	UTSW	3	103088442	missense	probably benign	0.05
R7436:Ampd1	UTSW	3	103074119	critical splice donor site	probably null
R7546:Ampd1	UTSW	3	103095712	missense	probably benign
R8344:Ampd1	UTSW	3	103095686	missense	possibly damaging	0.90
R8366:Ampd1	UTSW	3	103088494	missense	probably damaging	0.99
R8423:Ampd1	UTSW	3	103080989	missense	probably benign
R8543:Ampd1	UTSW	3	103079170	missense	possibly damaging	0.50
R8730:Ampd1	UTSW	3	103085360	nonsense	probably null
R8904:Ampd1	UTSW	3	103081058	missense	probably benign	0.12
R9017:Ampd1	UTSW	3	103088470	missense	probably benign	0.01
R9121:Ampd1	UTSW	3	103098682	nonsense	probably null
R9150:Ampd1	UTSW	3	103081043	missense	possibly damaging	0.49
R9242:Ampd1	UTSW	3	103091620	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCAAATCAGGGCGCTTC -3'
(R):5'- ACTCAAATTAGTTCCTCGAAGGC -3'

Sequencing Primer
(F):5'- AAATCAGGGCGCTTCTTTCTC -3'
(R):5'- CAAATTAGTTCCTCGAAGGCTTGCG -3'

Posted On

2014-06-23