Mutagenetix > Incidental Mutation

Incidental Mutation 'R6225:Adss1'

504285

Institutional Source

Beutler Lab

Gene Symbol

Adss1

Ensembl Gene

ENSMUSG00000011148

Gene Name

adenylosuccinate synthase 1

Synonyms

Adss, Adssl1

MMRRC Submission

044356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R6225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112586481-112607789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 112600837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 226 (H226P)

Ref Sequence

ENSEMBL: ENSMUSP00000136572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021726] [ENSMUST00000180015]

AlphaFold

P28650

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021726
AA Change: H203P

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: H203P

Domain	Start	End	E-Value	Type
Adenylsucc_synt	33	455	5.9e-259	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180015
AA Change: H226P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: H226P

Domain	Start	End	E-Value	Type
Adenylsucc_synt	33	478	2.17e-248	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223044

Meta Mutation Damage Score

0.7127

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,870,445 (GRCm39)	H288R	possibly damaging	Het
Adh1	T	C	3: 137,995,565 (GRCm39)	F323L	probably benign	Het
Ahrr	A	G	13: 74,371,031 (GRCm39)	S230P	possibly damaging	Het
Akap9	T	C	5: 4,012,105 (GRCm39)	V936A	probably damaging	Het
B4galnt2	A	G	11: 95,759,268 (GRCm39)	Y339H	probably damaging	Het
Bltp1	T	C	3: 37,002,453 (GRCm39)	V1466A	probably damaging	Het
C4b	C	A	17: 34,957,848 (GRCm39)	G611V	possibly damaging	Het
Cacna1i	A	G	15: 80,205,427 (GRCm39)	M128V	probably damaging	Het
Chia1	T	C	3: 106,038,213 (GRCm39)	S370P	possibly damaging	Het
Cops6	T	C	5: 138,159,673 (GRCm39)	V9A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,321 (GRCm39)	I193K	probably benign	Het
Daam2	T	C	17: 49,801,467 (GRCm39)	D90G	probably damaging	Het
Fads3	A	G	19: 10,019,202 (GRCm39)	D36G	probably benign	Het
Fam185a	T	C	5: 21,630,554 (GRCm39)	V130A	probably damaging	Het
Fbn1	A	T	2: 125,172,463 (GRCm39)	N1928K	probably damaging	Het
Fstl3	A	G	10: 79,615,843 (GRCm39)	M110V	probably benign	Het
G2e3	A	G	12: 51,415,919 (GRCm39)	T552A	possibly damaging	Het
Gfra1	G	A	19: 58,226,830 (GRCm39)	T462I	probably damaging	Het
Glrx2	T	A	1: 143,621,121 (GRCm39)		probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Gm43302	T	A	5: 105,425,605 (GRCm39)	K275*	probably null	Het
Gm6569	A	G	15: 73,711,640 (GRCm39)		probably benign	Het
Herc6	G	T	6: 57,639,139 (GRCm39)	V867L	possibly damaging	Het
Hhipl2	T	A	1: 183,209,459 (GRCm39)		probably null	Het
Kcnj16	A	T	11: 110,916,378 (GRCm39)	K347*	probably null	Het
Kcnt2	T	A	1: 140,354,661 (GRCm39)	C305*	probably null	Het
Large2	A	G	2: 92,196,825 (GRCm39)	L477P	probably damaging	Het
Lnpep	T	C	17: 17,799,245 (GRCm39)	T137A	possibly damaging	Het
Mettl3	T	C	14: 52,534,215 (GRCm39)		probably null	Het
Mical3	C	T	6: 120,935,684 (GRCm39)	S1614N	probably damaging	Het
Mmut	T	A	17: 41,249,622 (GRCm39)	V199E	possibly damaging	Het
Morc3	C	A	16: 93,642,082 (GRCm39)	Y100*	probably null	Het
Mrc2	A	G	11: 105,237,646 (GRCm39)	K1108R	probably benign	Het
Mrpl2	T	C	17: 46,960,835 (GRCm39)	V243A	probably damaging	Het
Mtor	T	A	4: 148,605,794 (GRCm39)	N1505K	probably benign	Het
Myo1g	A	T	11: 6,469,168 (GRCm39)	Y45N	probably damaging	Het
Nckap5l	C	A	15: 99,325,905 (GRCm39)	L199F	possibly damaging	Het
Ndufc2	A	G	7: 97,056,099 (GRCm39)	T66A	probably damaging	Het
Nos1	T	A	5: 118,050,917 (GRCm39)	H779Q	probably damaging	Het
Or12e13	A	G	2: 87,663,661 (GRCm39)	T93A	probably benign	Het
Or13j1	T	C	4: 43,705,698 (GRCm39)	Y290C	probably damaging	Het
Or1e23	T	C	11: 73,407,831 (GRCm39)	N65D	probably damaging	Het
Or4c3	A	G	2: 89,851,573 (GRCm39)		probably null	Het
Or51ah3	A	T	7: 103,210,489 (GRCm39)	R268S	probably benign	Het
Or5au1	C	A	14: 52,272,825 (GRCm39)	V248L	possibly damaging	Het
Or5k16	T	C	16: 58,736,545 (GRCm39)	N153S	probably benign	Het
Otog	C	T	7: 45,898,458 (GRCm39)	T192I	possibly damaging	Het
Oxct1	T	C	15: 4,064,812 (GRCm39)	V50A	probably benign	Het
P3h2	T	A	16: 25,784,493 (GRCm39)	D667V	probably damaging	Het
Pcdhb20	A	G	18: 37,638,047 (GRCm39)	Y191C	probably damaging	Het
Pds5b	T	G	5: 150,670,083 (GRCm39)	V357G	probably damaging	Het
Pggt1b	A	G	18: 46,407,674 (GRCm39)	V81A	possibly damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,095,469 (GRCm39)	I406T	probably benign	Het
Ppat	T	C	5: 77,070,202 (GRCm39)	I173V	probably damaging	Het
Proser3	T	C	7: 30,243,153 (GRCm39)	S167G	probably damaging	Het
Rnf135	A	C	11: 80,080,053 (GRCm39)	T115P	possibly damaging	Het
Rpl22	C	T	4: 152,414,536 (GRCm39)	R65C	probably benign	Het
Scel	T	C	14: 103,829,420 (GRCm39)	F405L	probably benign	Het
Serinc3	A	G	2: 163,469,799 (GRCm39)	Y350H	probably damaging	Het
Slc25a16	C	A	10: 62,764,102 (GRCm39)	T53K	probably damaging	Het
Slco1a1	A	T	6: 141,870,215 (GRCm39)	F308I	possibly damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smok3c	T	C	5: 138,063,314 (GRCm39)	V267A	probably benign	Het
Ssrp1	A	G	2: 84,873,158 (GRCm39)	D473G	probably benign	Het
Svs6	A	G	2: 164,159,405 (GRCm39)	E56G	possibly damaging	Het
Tas2r130	TCATTTC	T	6: 131,607,547 (GRCm39)		probably benign	Het
Thoc3	T	C	13: 54,615,785 (GRCm39)	N93S	probably benign	Het
Tle6	A	G	10: 81,428,600 (GRCm39)	C443R	probably damaging	Het
Tmed6	A	G	8: 107,788,371 (GRCm39)	F192S	probably damaging	Het
Tpx2	A	G	2: 152,718,548 (GRCm39)	N184D	probably benign	Het
Vmn2r31	T	A	7: 7,397,638 (GRCm39)	N207Y	probably benign	Het
Zfp267	T	C	3: 36,220,352 (GRCm39)	F792L	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp972	A	T	2: 177,549,117 (GRCm39)		probably null	Het
Zzef1	G	A	11: 72,760,631 (GRCm39)	C1318Y	possibly damaging	Het

Other mutations in Adss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Adss1	APN	12	112,601,170 (GRCm39)	splice site	probably benign
IGL03105:Adss1	APN	12	112,599,155 (GRCm39)	missense	probably benign	0.00
barty	UTSW	12	112,600,623 (GRCm39)	missense	probably damaging	1.00
lannister	UTSW	12	112,601,147 (GRCm39)	missense	probably damaging	1.00
R0179:Adss1	UTSW	12	112,598,703 (GRCm39)	missense	probably benign	0.11
R1722:Adss1	UTSW	12	112,602,915 (GRCm39)	missense	possibly damaging	0.93
R1911:Adss1	UTSW	12	112,599,443 (GRCm39)	missense	probably benign
R2877:Adss1	UTSW	12	112,600,623 (GRCm39)	missense	probably damaging	1.00
R4829:Adss1	UTSW	12	112,601,147 (GRCm39)	missense	probably damaging	1.00
R5155:Adss1	UTSW	12	112,604,642 (GRCm39)	missense	probably damaging	1.00
R6247:Adss1	UTSW	12	112,594,790 (GRCm39)	missense	probably damaging	1.00
R6873:Adss1	UTSW	12	112,599,138 (GRCm39)	missense	probably benign	0.00
R7012:Adss1	UTSW	12	112,600,670 (GRCm39)	missense	probably benign	0.01
R7449:Adss1	UTSW	12	112,600,585 (GRCm39)	missense	probably damaging	1.00
R7662:Adss1	UTSW	12	112,606,172 (GRCm39)	missense	probably damaging	0.98
R7976:Adss1	UTSW	12	112,602,831 (GRCm39)	missense	probably benign	0.00
R9301:Adss1	UTSW	12	112,602,882 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAGTTTTCTGCCAGGTAGG -3'
(R):5'- ATCTCGAACCATGGGTCTGATG -3'

Sequencing Primer
(F):5'- TTCTGCCAGGTAGGTCTGCC -3'
(R):5'- TGAGAGGACCGTGCAACCAC -3'

Posted On

2018-02-28