Mutagenetix > Incidental Mutation

Incidental Mutation 'R5890:Ampd1'

457071

Institutional Source

Beutler Lab

Gene Symbol

Ampd1

Ensembl Gene

ENSMUSG00000070385

Gene Name

adenosine monophosphate deaminase 1

Synonyms

Ampd-1

MMRRC Submission

044091-MU

Accession Numbers

Essential gene?

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

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102981330-103007036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102997391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 264 (F264L)

Ref Sequence

ENSEMBL: ENSMUSP00000088217 (fasta)

Gene Model

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

AlphaFold

Q3V1D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000090715
AA Change: F264L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385
AA Change: F264L

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: F264L

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143129
Gene: ENSMUSG00000070385
AA Change: F264L

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

probably benign
Transcript: ENSMUST00000176440

Predicted Effect

probably benign
Transcript: ENSMUST00000177250

SMART Domains

Protein: ENSMUSP00000134772
Gene: ENSMUSG00000070385

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199407

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,550,554 (GRCm39)		probably null	Het
Acsm3	C	A	7: 119,374,457 (GRCm39)	T303N	probably benign	Het
Adamts13	A	T	2: 26,876,603 (GRCm39)	R506W	probably damaging	Het
Adck5	C	T	15: 76,477,785 (GRCm39)	T166M	probably damaging	Het
Adcy8	T	A	15: 64,687,266 (GRCm39)	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,564,811 (GRCm39)	D252E	probably damaging	Het
Aldh16a1	T	A	7: 44,793,969 (GRCm39)	T636S	probably benign	Het
Arhgap17	T	C	7: 122,885,981 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,222,151 (GRCm39)		probably benign	Het
Bltp2	C	T	11: 78,164,096 (GRCm39)	Q40*	probably null	Het
Bod1l	T	A	5: 41,977,921 (GRCm39)	E1131V	probably benign	Het
Cbs	C	T	17: 31,832,193 (GRCm39)	V553M	probably damaging	Het
Cd72	T	C	4: 43,454,475 (GRCm39)	K18R	probably damaging	Het
Cep89	A	G	7: 35,128,587 (GRCm39)	Y580C	probably damaging	Het
Chrnb1	T	A	11: 69,683,555 (GRCm39)	I264F	possibly damaging	Het
Cntf	A	G	19: 12,741,357 (GRCm39)	W168R	probably damaging	Het
Cxxc1	T	A	18: 74,354,237 (GRCm39)	D648E	possibly damaging	Het
Cyp2c68	A	T	19: 39,700,936 (GRCm39)	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,605,414 (GRCm39)	S532P	probably damaging	Het
Defb3	G	A	8: 19,345,200 (GRCm39)	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,533,428 (GRCm39)	E114A	probably benign	Het
Dnah12	T	C	14: 26,428,039 (GRCm39)	F222L	probably benign	Het
Dock9	A	C	14: 121,905,820 (GRCm39)		probably null	Het
Fras1	A	T	5: 96,793,807 (GRCm39)	H1043L	probably benign	Het
Gamt	C	A	10: 80,095,741 (GRCm39)	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,969,544 (GRCm39)	H298R	probably benign	Het
Gphb5	C	T	12: 75,462,596 (GRCm39)		probably null	Het
Greb1	A	T	12: 16,783,422 (GRCm39)	V104D	possibly damaging	Het
Hck	A	G	2: 152,970,996 (GRCm39)	D86G	probably damaging	Het
Jhy	T	A	9: 40,833,958 (GRCm39)	K321*	probably null	Het
Kcna5	C	T	6: 126,511,699 (GRCm39)	R143H	probably damaging	Het
Kif19a	G	T	11: 114,680,264 (GRCm39)	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,490,303 (GRCm39)	A376V	probably damaging	Het
Mars1	A	T	10: 127,133,914 (GRCm39)	M661K	probably benign	Het
Mecp2	C	T	X: 73,079,043 (GRCm39)	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,917,651 (GRCm39)	C132S	probably damaging	Het
Mfsd4a	T	C	1: 131,966,666 (GRCm39)	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,500,188 (GRCm39)	A89E	probably benign	Het
Mkln1	A	T	6: 31,467,482 (GRCm39)	E593D	probably benign	Het
Mlh1	G	T	9: 111,057,563 (GRCm39)	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,707 (GRCm39)	*339C	probably null	Het
Nphp4	T	C	4: 152,631,536 (GRCm39)	V812A	probably benign	Het
Nrcam	G	T	12: 44,623,554 (GRCm39)	V1048L	probably benign	Het
Obsl1	G	A	1: 75,470,503 (GRCm39)	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,357,326 (GRCm39)	F163I	probably damaging	Het
Pcdha6	C	A	18: 37,102,121 (GRCm39)	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,286 (GRCm39)	M271L	probably benign	Het
Phip	T	C	9: 82,789,005 (GRCm39)	T770A	probably benign	Het
Ppm1d	A	G	11: 85,217,734 (GRCm39)	T166A	probably damaging	Het
Ptprf	A	T	4: 118,081,932 (GRCm39)	I1102K	probably benign	Het
Sbsn	T	C	7: 30,452,692 (GRCm39)	V569A	possibly damaging	Het
Skida1	T	A	2: 18,050,814 (GRCm39)		probably benign	Het
Smg1	T	A	7: 117,789,809 (GRCm39)		probably benign	Het
Sorcs2	A	G	5: 36,386,535 (GRCm39)	Y168H	probably damaging	Het
Sufu	A	T	19: 46,443,172 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,500 (GRCm39)	W215R	probably damaging	Het
Tenm4	T	C	7: 96,552,067 (GRCm39)	L2502P	probably damaging	Het
Tgm4	A	T	9: 122,890,703 (GRCm39)	E10V	probably damaging	Het
Trip11	T	C	12: 101,852,231 (GRCm39)	E611G	probably damaging	Het
Ttn	C	A	2: 76,540,243 (GRCm39)	A34248S	possibly damaging	Het
Ube3a	T	A	7: 58,921,776 (GRCm39)	N49K	probably damaging	Het
Ube3c	A	G	5: 29,863,290 (GRCm39)	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,669,202 (GRCm39)	S301P	probably benign	Het
Wdfy4	T	A	14: 32,824,534 (GRCm39)	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,517,328 (GRCm39)	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,021,673 (GRCm39)	L601W	unknown	Het
Zfp236	A	G	18: 82,658,276 (GRCm39)	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,822,047 (GRCm39)	D58E	possibly 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
R4828:Ampd1	UTSW	3	102,988,413 (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
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'- ATCACCATGTCCAGCTCTGATG -3'
(R):5'- TGTAGGTTCCTCAGCAAGCG -3'

Sequencing Primer
(F):5'- TCCAGCTCTGATGGAAAGCTG -3'
(R):5'- GGCATCTGGTCCCTCAGAAGTC -3'

Posted On

2017-02-15