Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Ampd1'

580536

Institutional Source

Beutler Lab

Gene Symbol

Ampd1

Ensembl Gene

ENSMUSG00000070385

Gene Name

adenosine monophosphate deaminase 1

Synonyms

Ampd-1

MMRRC Submission

045512-MU

Accession Numbers

Essential gene?

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

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102981330-103007036 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 102981435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000088217 (fasta)

Gene Model

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

AlphaFold

Q3V1D3

Predicted Effect

probably null
Transcript: ENSMUST00000090715

SMART Domains

Protein: ENSMUSP00000088217
Gene: ENSMUSG00000070385

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 null
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

probably null
Transcript: ENSMUST00000176440

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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
1700024B05Rik	A	G	14: 41,805,178 (GRCm39)		probably null	Het
2310034C09Rik	A	G	16: 88,556,242 (GRCm39)	Y152C	probably benign	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Akap1	A	G	11: 88,736,354 (GRCm39)	S103P	probably damaging	Het
Apoa1	T	A	9: 46,141,100 (GRCm39)		probably null	Het
Asb16	A	G	11: 102,163,481 (GRCm39)	D157G	possibly damaging	Het
Bank1	T	C	3: 135,761,561 (GRCm39)	N748D	possibly damaging	Het
BC034090	C	A	1: 155,102,127 (GRCm39)	G46W	probably damaging	Het
Ccdc202	A	T	14: 96,120,027 (GRCm39)	K261N	probably benign	Het
Ccdc73	T	A	2: 104,782,214 (GRCm39)	V190E	probably damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyb561a3	A	G	19: 10,559,696 (GRCm39)	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 26,857,668 (GRCm39)	D427V	probably damaging	Het
Cyp4f14	T	C	17: 33,128,131 (GRCm39)	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,087,447 (GRCm39)	T510A	probably benign	Het
Dennd6a	G	T	14: 26,300,865 (GRCm39)	E26*	probably null	Het
Dusp10	T	C	1: 183,801,418 (GRCm39)	I395T	probably damaging	Het
Dzip3	T	A	16: 48,772,352 (GRCm39)	H439L	probably damaging	Het
Heatr5b	T	A	17: 79,075,962 (GRCm39)	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,619,112 (GRCm39)	F278L	probably benign	Het
Hspg2	T	A	4: 137,242,975 (GRCm39)	M702K	probably damaging	Het
Hydin	T	C	8: 111,310,546 (GRCm39)	F4081L	probably damaging	Het
Ido1	T	G	8: 25,076,932 (GRCm39)	T209P	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ipo8	T	C	6: 148,691,303 (GRCm39)	Y689C	probably benign	Het
Macf1	C	T	4: 123,350,436 (GRCm39)	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228 (GRCm39)	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,971,036 (GRCm39)	T1014A	probably benign	Het
Nek5	A	G	8: 22,598,056 (GRCm39)	F200L	probably damaging	Het
Nipal1	A	G	5: 72,824,984 (GRCm39)	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159 (GRCm39)	N80I	probably damaging	Het
Nmur1	G	A	1: 86,314,100 (GRCm39)	P389S	probably benign	Het
Or10d5	G	T	9: 39,861,349 (GRCm39)	C239*	probably null	Het
Or1p1	T	C	11: 74,179,511 (GRCm39)	L13P	possibly damaging	Het
Or8u10	T	C	2: 85,915,251 (GRCm39)	Y290C	probably damaging	Het
Patl2	A	C	2: 121,958,006 (GRCm39)	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,442,328 (GRCm39)	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,469,599 (GRCm39)	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,247,045 (GRCm39)	N35S	probably benign	Het
Pigw	A	T	11: 84,768,789 (GRCm39)	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,270,925 (GRCm39)	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,624,861 (GRCm39)	F436L	probably damaging	Het
Plch2	T	C	4: 155,068,553 (GRCm39)	T1358A	probably benign	Het
Poll	C	T	19: 45,541,496 (GRCm39)	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553 (GRCm39)		probably null	Het
Ppp1r35	G	A	5: 137,778,279 (GRCm39)	W258*	probably null	Het
Ptpdc1	A	T	13: 48,740,142 (GRCm39)	F430I	probably benign	Het
Ptprh	T	C	7: 4,555,742 (GRCm39)	E739G	probably damaging	Het
Ramp2	T	C	11: 101,138,765 (GRCm39)	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,501,747 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,627,593 (GRCm39)		probably null	Het
Rnf39	A	T	17: 37,254,241 (GRCm39)	S88C	probably benign	Het
Rpl12	A	G	2: 32,853,836 (GRCm39)	I155V	probably benign	Het
Scart2	A	T	7: 139,841,520 (GRCm39)	T275S	probably benign	Het
Senp5	C	T	16: 31,794,847 (GRCm39)	E596K	unknown	Het
Serpinb9d	A	G	13: 33,379,916 (GRCm39)	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,307,142 (GRCm39)	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,068,404 (GRCm39)		probably null	Het
Spatc1	A	T	15: 76,152,568 (GRCm39)	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,439,110 (GRCm39)	D342G	probably benign	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Utrn	A	C	10: 12,315,535 (GRCm39)	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,337,862 (GRCm39)	M168L	probably benign	Het
Vmn1r77	T	A	7: 11,775,694 (GRCm39)	S157T	probably benign	Het
Zfp977	A	G	7: 42,229,884 (GRCm39)	S214P	probably benign	Het
Zscan10	T	C	17: 23,828,979 (GRCm39)	L507P	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
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
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'- TAGGTCTGCAGCTCATCTCC -3'
(R):5'- GTTTGAGAAAATAACCCTCCTCCC -3'

Sequencing Primer
(F):5'- AGCTCATCTCCCCTTTTAGCAGG -3'
(R):5'- AGGAATGGTTGCATACGG -3'

Posted On

2019-10-07