Mutagenetix > Incidental Mutation

Incidental Mutation 'R4828:Ampd1'

372558

Institutional Source

Beutler Lab

Gene Symbol

Ampd1

Ensembl Gene

ENSMUSG00000070385

Gene Name

adenosine monophosphate deaminase 1

Synonyms

Ampd-1

MMRRC Submission

042444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102981330-103007036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102988413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 115 (T115P)

Ref Sequence

ENSEMBL: ENSMUSP00000135737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090715] [ENSMUST00000155034] [ENSMUST00000176440]

AlphaFold

Q3V1D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000090715
AA Change: T119P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: T119P

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

possibly damaging
Transcript: ENSMUST00000155034
AA Change: T119P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: T119P

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: ENSMUST00000158450

Predicted Effect

probably damaging
Transcript: ENSMUST00000176440
AA Change: T115P

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

Meta Mutation Damage Score

0.1726

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (106/108)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Adat3	T	C	10: 80,442,881 (GRCm39)	S240P	probably benign	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Alg2	A	G	4: 47,471,563 (GRCm39)	V415A	probably benign	Het
Alpk2	T	C	18: 65,482,184 (GRCm39)	E141G	probably benign	Het
Ankrd12	A	G	17: 66,291,632 (GRCm39)	L1267P	probably damaging	Het
Arfgef3	A	T	10: 18,528,441 (GRCm39)	S315R	probably damaging	Het
Atp10d	A	C	5: 72,396,461 (GRCm39)	D222A	probably benign	Het
B9d1	A	G	11: 61,398,461 (GRCm39)	E47G	probably damaging	Het
Bag2	T	C	1: 33,785,968 (GRCm39)	D118G	probably damaging	Het
Bnip3l	G	T	14: 67,246,208 (GRCm39)	P9Q	probably damaging	Het
Casp8ap2	A	G	4: 32,639,807 (GRCm39)	N287S	probably benign	Het
Ccdc190	A	G	1: 169,761,465 (GRCm39)	D189G	probably damaging	Het
Ccdc88a	A	G	11: 29,413,210 (GRCm39)	K583E	probably damaging	Het
Cd84	A	T	1: 171,700,315 (GRCm39)	N144I	probably damaging	Het
Chrnd	A	G	1: 87,119,293 (GRCm39)		probably benign	Het
Clca3b	G	T	3: 144,550,273 (GRCm39)	T224K	probably benign	Het
Crcp	A	G	5: 130,088,603 (GRCm39)	T119A	probably damaging	Het
Cul2	T	C	18: 3,431,013 (GRCm39)	Y596H	probably damaging	Het
Dip2c	T	A	13: 9,610,715 (GRCm39)	W356R	probably damaging	Het
Dlc1	T	A	8: 37,317,400 (GRCm39)	Q425L	possibly damaging	Het
Dnah7b	T	A	1: 46,167,272 (GRCm39)	V588D	possibly damaging	Het
Dock4	G	T	12: 40,718,436 (GRCm39)	G245W	probably damaging	Het
Dpf3	A	G	12: 83,341,273 (GRCm39)	I160T	possibly damaging	Het
Dstyk	A	G	1: 132,361,875 (GRCm39)	T102A	probably benign	Het
Eif3d	A	T	15: 77,844,229 (GRCm39)	L425*	probably null	Het
Elac2	A	G	11: 64,886,153 (GRCm39)	E477G	probably damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Ext2	G	A	2: 93,626,112 (GRCm39)	T316I	probably benign	Het
Fbf1	A	G	11: 116,039,777 (GRCm39)	V694A	probably benign	Het
Fgg	G	A	3: 82,915,677 (GRCm39)		probably benign	Het
Flnb	G	A	14: 7,919,238 (GRCm38)	V1664I	probably benign	Het
Flnc	G	A	6: 29,455,166 (GRCm39)	D1932N	probably damaging	Het
Gm1818	A	T	12: 48,602,409 (GRCm39)		noncoding transcript	Het
Gnai1	G	A	5: 18,496,470 (GRCm39)	S151L	probably damaging	Het
Golph3l	G	A	3: 95,499,059 (GRCm39)	R67H	possibly damaging	Het
Grk5	T	A	19: 60,976,213 (GRCm39)	C42*	probably null	Het
Herc1	G	A	9: 66,404,625 (GRCm39)		probably null	Het
Hey2	A	T	10: 30,710,179 (GRCm39)	H191Q	possibly damaging	Het
Il11	A	G	7: 4,779,481 (GRCm39)	V8A	probably benign	Het
Il23r	G	A	6: 67,408,635 (GRCm39)	P402L	probably benign	Het
Irf5	A	G	6: 29,531,140 (GRCm39)	N2S	probably damaging	Het
Lamb1	T	C	12: 31,348,929 (GRCm39)	Y606H	probably benign	Het
Larp4b	C	T	13: 9,220,934 (GRCm39)	R650C	probably damaging	Het
Lrpap1	T	C	5: 35,259,765 (GRCm39)	E111G	possibly damaging	Het
Lrrc36	T	A	8: 106,181,862 (GRCm39)	S388T	probably benign	Het
Med27	T	C	2: 29,267,950 (GRCm39)		probably benign	Het
Mrc1	T	G	2: 14,275,017 (GRCm39)	D439E	probably damaging	Het
Notch4	A	T	17: 34,789,034 (GRCm39)	E444D	probably damaging	Het
Nrm	G	A	17: 36,175,082 (GRCm39)	V137I	possibly damaging	Het
Nxpe5	T	A	5: 138,228,795 (GRCm39)	L4Q	possibly damaging	Het
Obscn	A	G	11: 58,977,496 (GRCm39)	V2052A	possibly damaging	Het
Oc90	A	T	15: 65,753,408 (GRCm39)	Y304N	probably damaging	Het
Or13f5	T	C	4: 52,826,138 (GRCm39)	V247A	probably damaging	Het
Or52d3	T	A	7: 104,229,180 (GRCm39)	F109Y	possibly damaging	Het
Or5p1	T	C	7: 107,916,677 (GRCm39)	V192A	probably benign	Het
Or8b101	T	C	9: 38,020,036 (GRCm39)	I13T	probably damaging	Het
Or8k1	T	A	2: 86,047,877 (GRCm39)	H59L	possibly damaging	Het
Parp10	A	T	15: 76,127,281 (GRCm39)	I52N	probably benign	Het
Pdgfrb	C	A	18: 61,206,315 (GRCm39)	R608S	probably damaging	Het
Pecam1	A	G	11: 106,590,634 (GRCm39)	C47R	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pkhd1l1	A	G	15: 44,392,801 (GRCm39)	E1712G	possibly damaging	Het
Plce1	T	C	19: 38,757,943 (GRCm39)	I1958T	probably damaging	Het
Plch2	C	T	4: 155,069,092 (GRCm39)	R1073Q	probably benign	Het
Pld5	A	C	1: 176,102,433 (GRCm39)	I3S	probably benign	Het
Polr1a	T	C	6: 71,943,385 (GRCm39)	W1207R	possibly damaging	Het
Polr2m	T	G	9: 71,391,050 (GRCm39)	I51L	possibly damaging	Het
Ppl	G	A	16: 4,922,790 (GRCm39)	R234C	probably damaging	Het
Ppp1r42	C	T	1: 10,069,636 (GRCm39)	R142H	probably benign	Het
Prokr1	A	G	6: 87,558,224 (GRCm39)	V387A	probably benign	Het
Prss23	A	T	7: 89,159,108 (GRCm39)	Y320*	probably null	Het
Ptprk	A	T	10: 28,436,050 (GRCm39)	M804L	probably damaging	Het
Rdh16f2	A	G	10: 127,710,823 (GRCm39)	S147G	probably benign	Het
Rgs7bp	T	C	13: 105,189,532 (GRCm39)	H89R	possibly damaging	Het
Rilpl2	G	T	5: 124,607,875 (GRCm39)	T115K	possibly damaging	Het
Rnf212	G	A	5: 108,877,334 (GRCm39)	S153F	probably damaging	Het
Rnf213	A	G	11: 119,307,455 (GRCm39)	D705G	possibly damaging	Het
Selenbp2	A	G	3: 94,611,426 (GRCm39)	N379S	probably benign	Het
Sema3e	G	A	5: 14,276,654 (GRCm39)	V312M	probably damaging	Het
Sh2d5	T	A	4: 137,985,566 (GRCm39)	L338Q	probably damaging	Het
Shank3	A	G	15: 89,384,402 (GRCm39)		probably benign	Het
Skor2	G	T	18: 76,948,113 (GRCm39)	G612C	probably damaging	Het
Slc22a16	A	G	10: 40,449,636 (GRCm39)	Y24C	probably damaging	Het
Slc4a1ap	T	A	5: 31,688,053 (GRCm39)	Y312*	probably null	Het
Slc5a7	A	T	17: 54,583,827 (GRCm39)	F488I	probably benign	Het
Snrnp200	A	G	2: 127,053,527 (GRCm39)	D130G	probably damaging	Het
Sorbs2	T	A	8: 46,194,652 (GRCm39)		probably benign	Het
Tmem91	T	G	7: 25,368,803 (GRCm39)	T161P	probably damaging	Het
Tpd52l1	G	A	10: 31,222,697 (GRCm39)	T99M	probably damaging	Het
Trps1	A	G	15: 50,524,073 (GRCm39)	*1036Q	probably null	Het
Tshr	A	T	12: 91,504,564 (GRCm39)	T501S	probably damaging	Het
Tubgcp3	T	C	8: 12,721,987 (GRCm39)	N15S	probably benign	Het
Unc5b	A	G	10: 60,608,127 (GRCm39)	S669P	possibly damaging	Het
Zfp970	A	G	2: 177,167,146 (GRCm39)	E240G	probably damaging	Het

Other mutations in Ampd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Ampd1	APN	3	103,007,010 (GRCm39)	missense	possibly damaging	0.64
IGL00909:Ampd1	APN	3	102,995,744 (GRCm39)	missense	probably benign	0.10
IGL01543:Ampd1	APN	3	103,003,029 (GRCm39)	missense	probably benign	0.00
IGL01743:Ampd1	APN	3	103,002,201 (GRCm39)	splice site	probably benign
IGL02390:Ampd1	APN	3	102,986,357 (GRCm39)	missense	probably benign	0.28
IGL02637:Ampd1	APN	3	103,002,199 (GRCm39)	splice site	probably benign
IGL02735:Ampd1	APN	3	102,992,693 (GRCm39)	missense	probably damaging	1.00
IGL03151:Ampd1	APN	3	102,999,786 (GRCm39)	splice site	probably null
twinkle_toes	UTSW	3	103,002,962 (GRCm39)	nonsense	probably null
R0158:Ampd1	UTSW	3	102,999,046 (GRCm39)	nonsense	probably null
R0441:Ampd1	UTSW	3	102,995,794 (GRCm39)	missense	probably benign	0.05
R0646:Ampd1	UTSW	3	103,006,913 (GRCm39)	missense	probably damaging	1.00
R1474:Ampd1	UTSW	3	103,006,154 (GRCm39)	missense	probably damaging	1.00
R1499:Ampd1	UTSW	3	102,998,980 (GRCm39)	missense	probably damaging	1.00
R1789:Ampd1	UTSW	3	103,006,442 (GRCm39)	missense	possibly damaging	0.46
R2131:Ampd1	UTSW	3	103,002,194 (GRCm39)	critical splice donor site	probably null
R3706:Ampd1	UTSW	3	102,995,627 (GRCm39)	splice site	probably benign
R4007:Ampd1	UTSW	3	102,999,776 (GRCm39)	missense	probably damaging	0.99
R4169:Ampd1	UTSW	3	103,002,157 (GRCm39)	missense	probably damaging	1.00
R4525:Ampd1	UTSW	3	103,002,049 (GRCm39)	missense	probably damaging	1.00
R5015:Ampd1	UTSW	3	103,006,981 (GRCm39)	missense	possibly damaging	0.89
R5514:Ampd1	UTSW	3	102,986,488 (GRCm39)	missense	possibly damaging	0.50
R5839:Ampd1	UTSW	3	102,992,744 (GRCm39)	missense	possibly damaging	0.47
R5872:Ampd1	UTSW	3	102,986,446 (GRCm39)	missense	probably benign	0.00
R5890:Ampd1	UTSW	3	102,997,391 (GRCm39)	missense	probably damaging	1.00
R5986:Ampd1	UTSW	3	102,992,713 (GRCm39)	missense	probably damaging	1.00
R6272:Ampd1	UTSW	3	102,992,699 (GRCm39)	missense	possibly damaging	0.50
R6473:Ampd1	UTSW	3	103,002,962 (GRCm39)	nonsense	probably null
R6504:Ampd1	UTSW	3	103,006,911 (GRCm39)	missense	possibly damaging	0.90
R7051:Ampd1	UTSW	3	102,997,389 (GRCm39)	missense	probably damaging	1.00
R7323:Ampd1	UTSW	3	102,992,696 (GRCm39)	missense	probably benign
R7424:Ampd1	UTSW	3	102,995,758 (GRCm39)	missense	probably benign	0.05
R7436:Ampd1	UTSW	3	102,981,435 (GRCm39)	critical splice donor site	probably null
R7546:Ampd1	UTSW	3	103,003,028 (GRCm39)	missense	probably benign
R8344:Ampd1	UTSW	3	103,003,002 (GRCm39)	missense	possibly damaging	0.90
R8366:Ampd1	UTSW	3	102,995,810 (GRCm39)	missense	probably damaging	0.99
R8423:Ampd1	UTSW	3	102,988,305 (GRCm39)	missense	probably benign
R8543:Ampd1	UTSW	3	102,986,486 (GRCm39)	missense	possibly damaging	0.50
R8730:Ampd1	UTSW	3	102,992,676 (GRCm39)	nonsense	probably null
R8904:Ampd1	UTSW	3	102,988,374 (GRCm39)	missense	probably benign	0.12
R9017:Ampd1	UTSW	3	102,995,786 (GRCm39)	missense	probably benign	0.01
R9121:Ampd1	UTSW	3	103,005,998 (GRCm39)	nonsense	probably null
R9150:Ampd1	UTSW	3	102,988,359 (GRCm39)	missense	possibly damaging	0.49
R9242:Ampd1	UTSW	3	102,998,936 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATTCCAATGGAACTCCTGAGG -3'
(R):5'- AGACATTGTGTGGGATGACG -3'

Sequencing Primer
(F):5'- TCCTGAGGAGGACCAAGC -3'
(R):5'- GGAGCAACACAGGAATGTGACATTC -3'

Posted On

2016-03-01