Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Adss1'

591662

Institutional Source

Beutler Lab

Gene Symbol

Adss1

Ensembl Gene

ENSMUSG00000011148

Gene Name

adenylosuccinate synthase 1

Synonyms

Adss, Adssl1

MMRRC Submission

045737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R7662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112586481-112607789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112606172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 456 (V456E)

Ref Sequence

ENSEMBL: ENSMUSP00000136572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021726] [ENSMUST00000021728] [ENSMUST00000180015]

AlphaFold

P28650

Predicted Effect

probably damaging
Transcript: ENSMUST00000021726
AA Change: V433E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021726
Gene: ENSMUSG00000011148
AA Change: V433E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021728

SMART Domains

Protein: ENSMUSP00000021728
Gene: ENSMUSG00000064326

Domain	Start	End	E-Value	Type
Pfam:Siva	1	175	3.8e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180015
AA Change: V456E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136572
Gene: ENSMUSG00000011148
AA Change: V456E

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

Meta Mutation Damage Score

0.9191

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,885,999 (GRCm39)	S48L	probably benign	Het
Abi3bp	A	G	16: 56,437,686 (GRCm39)		probably null	Het
Aimp1	A	T	3: 132,379,827 (GRCm39)	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694 (GRCm39)	R270C	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asb15	T	A	6: 24,566,089 (GRCm39)	D347E	probably benign	Het
Axin2	T	A	11: 108,833,282 (GRCm39)	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,801,438 (GRCm39)	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,807,836 (GRCm39)	L443P	probably benign	Het
Celf2	C	A	2: 6,558,728 (GRCm39)	G393C	probably damaging	Het
Cep290	T	A	10: 100,373,665 (GRCm39)	M1315K	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	T	9: 9,661,390 (GRCm39)	M887K	probably benign	Het
Col17a1	T	C	19: 47,669,940 (GRCm39)	I71V	probably benign	Het
Crot	T	C	5: 9,019,072 (GRCm39)	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,613,852 (GRCm39)	V246D	probably damaging	Het
Cyb5r4	A	G	9: 86,909,091 (GRCm39)	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,470,037 (GRCm39)	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,759,713 (GRCm39)	I273V	probably damaging	Het
Dkk2	A	G	3: 131,883,629 (GRCm39)		probably null	Het
Dnaja2	A	C	8: 86,265,905 (GRCm39)	D393E	probably benign	Het
Dscc1	T	A	15: 54,939,561 (GRCm39)	I461F	possibly damaging	Het
Dspp	A	T	5: 104,325,736 (GRCm39)	S700C	unknown	Het
Ect2	T	A	3: 27,185,947 (GRCm39)	H512L	probably damaging	Het
Eif1b	A	G	9: 120,323,277 (GRCm39)	T46A	possibly damaging	Het
Fam114a2	A	T	11: 57,398,391 (GRCm39)	D182E	probably damaging	Het
Fez1	C	A	9: 36,781,796 (GRCm39)	P347H	probably damaging	Het
Fgd5	G	A	6: 92,026,912 (GRCm39)		probably null	Het
Flad1	T	A	3: 89,310,758 (GRCm39)	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,868,614 (GRCm39)	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,127,137 (GRCm39)	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,682,686 (GRCm39)	S16Y	unknown	Het
Gm5624	T	C	14: 44,799,390 (GRCm39)	R56G	possibly damaging	Het
Gpatch11	A	C	17: 79,146,484 (GRCm39)	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,477,361 (GRCm39)	T409A	probably benign	Het
Hmcn2	T	C	2: 31,272,357 (GRCm39)	I1279T	probably benign	Het
Itih3	T	A	14: 30,639,287 (GRCm39)	N429Y	probably benign	Het
Lrp5	A	G	19: 3,736,353 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,452 (GRCm39)	Y93F	probably benign	Het
Lypd9	T	C	11: 58,338,269 (GRCm39)	N41S	probably benign	Het
Malrd1	T	A	2: 15,876,265 (GRCm39)	V1404D	unknown	Het
Med1	T	C	11: 98,046,218 (GRCm39)	N1526S	unknown	Het
Myt1l	A	G	12: 29,876,868 (GRCm39)	D173G	unknown	Het
Nckap1l	A	T	15: 103,371,012 (GRCm39)	H197L	probably damaging	Het
Nipa1	T	C	7: 55,629,372 (GRCm39)	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,619,542 (GRCm39)	R132*	probably null	Het
Nrap	G	T	19: 56,308,715 (GRCm39)	A1700E	probably benign	Het
Odr4	T	C	1: 150,258,045 (GRCm39)	S197G	probably benign	Het
Or13p8	T	A	4: 118,583,504 (GRCm39)	F20Y	probably damaging	Het
Or8g32	A	T	9: 39,305,389 (GRCm39)	M98L	probably benign	Het
Padi6	T	C	4: 140,456,306 (GRCm39)	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,631,788 (GRCm39)	E528K	probably damaging	Het
Pcnt	T	C	10: 76,223,356 (GRCm39)	D1942G	probably benign	Het
Pcnx2	C	T	8: 126,545,510 (GRCm39)	W1167*	probably null	Het
Pkp3	C	T	7: 140,658,292 (GRCm39)	T19I	probably benign	Het
Plekhg5	T	C	4: 152,188,755 (GRCm39)	L199P	probably damaging	Het
Rasal1	A	G	5: 120,800,249 (GRCm39)	T171A	probably benign	Het
Rgsl1	T	C	1: 153,701,225 (GRCm39)	I410V	probably benign	Het
Scart2	T	C	7: 139,874,725 (GRCm39)	V401A	possibly damaging	Het
Sftpa1	C	A	14: 40,856,169 (GRCm39)	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smap1	A	T	1: 23,916,855 (GRCm39)	N91K	probably damaging	Het
Tenm3	A	G	8: 48,788,762 (GRCm39)	S695P	probably benign	Het
Thoc3	A	T	13: 54,611,617 (GRCm39)	H223Q	probably damaging	Het
Tmco4	T	C	4: 138,737,872 (GRCm39)	F156L	probably benign	Het
Tmem30a	C	T	9: 79,682,513 (GRCm39)	V188I	probably benign	Het
Trim27	T	A	13: 21,376,328 (GRCm39)	C359S	probably benign	Het
Trrap	A	G	5: 144,769,321 (GRCm39)	T2609A	probably benign	Het
Ttn	A	G	2: 76,692,744 (GRCm39)	V446A		Het
Vat1l	T	A	8: 115,009,084 (GRCm39)	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,094,552 (GRCm39)	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,308,521 (GRCm39)	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,460,492 (GRCm39)	L606*	probably null	Het
Vmn2r93	G	T	17: 18,525,631 (GRCm39)	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304 (GRCm39)	N466K	probably damaging	Het
Zfp507	A	T	7: 35,487,229 (GRCm39)	Y746*	probably null	Het
Zfp521	A	C	18: 13,977,173 (GRCm39)	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,653,278 (GRCm39)		probably null	Het
Zfp831	G	A	2: 174,487,934 (GRCm39)	A870T	possibly damaging	Het
Zfp936	A	T	7: 42,839,336 (GRCm39)	K268*	probably null	Het
Zhx2	C	A	15: 57,685,572 (GRCm39)	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679 (GRCm39)	K654*	probably null	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
R6225:Adss1	UTSW	12	112,600,837 (GRCm39)	missense	probably damaging	0.96
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
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'- TCACCAGGTGAGAAGACGAC -3'
(R):5'- AGCTGAGGAAATGACCTGC -3'

Sequencing Primer
(F):5'- GACGACCGTCTCCACAAGTG -3'
(R):5'- AGGAAATGACCTGCCCCTGATG -3'

Posted On

2019-11-12