Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Accs'

357876

Institutional Source

Beutler Lab

Gene Symbol

Accs

Ensembl Gene

ENSMUSG00000040272

Gene Name

1-aminocyclopropane-1-carboxylate synthase (non-functional)

Synonyms

2610203E10Rik

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93833467-93849943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93841337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 236 (E236G)

Ref Sequence

ENSEMBL: ENSMUSP00000106877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041593] [ENSMUST00000068513] [ENSMUST00000111246] [ENSMUST00000130077]

AlphaFold

A2AIG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041593
AA Change: E213G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: E213G

Domain	Start	End	E-Value	Type
low complexity region	35	43	N/A	INTRINSIC
Pfam:Aminotran_1_2	74	448	1.9e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068513
AA Change: E213G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: E213G

Domain	Start	End	E-Value	Type
low complexity region	35	43	N/A	INTRINSIC
Pfam:Aminotran_1_2	74	448	1.9e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111246
AA Change: E236G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: E236G

Domain	Start	End	E-Value	Type
low complexity region	58	66	N/A	INTRINSIC
Pfam:Aminotran_1_2	97	471	2.1e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128719

Predicted Effect

probably benign
Transcript: ENSMUST00000130077

SMART Domains

Protein: ENSMUSP00000114687
Gene: ENSMUSG00000040272

Domain	Start	End	E-Value	Type
low complexity region	35	43	N/A	INTRINSIC
Pfam:Aminotran_1_2	74	157	2.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149073

Predicted Effect

probably benign
Transcript: ENSMUST00000150666

SMART Domains

Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272

Domain	Start	End	E-Value	Type
SCOP:d1b8ga_	2	72	7e-9	SMART

Meta Mutation Damage Score

0.6745

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859		noncoding transcript	Het
Agrn	C	T	4: 156,173,522		probably benign	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987		probably null	Het
C130079G13Rik	C	T	3: 59,936,314	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,249,512	H305L	probably benign	Het
Cenpk	A	T	13: 104,230,871	M37L	probably benign	Het
Ces5a	C	A	8: 93,535,677	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406		probably null	Het
Col4a4	T	C	1: 82,541,174	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786		probably null	Het
Gpld1	T	A	13: 24,979,692	Y44*	probably null	Het
Gpld1	A	T	13: 24,979,688	Y43F	probably benign	Het
Grid2	A	G	6: 63,908,988	T123A	probably benign	Het
Grina	T	C	15: 76,249,242	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945	K319*	probably null	Het
Hey2	A	T	10: 30,834,304	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843	C32W	probably damaging	Het
March10	C	T	11: 105,364,476		probably benign	Het
Mier2	A	T	10: 79,549,197	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Myo18b	G	A	5: 112,874,474	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739	A513E	probably benign	Het
Neb	T	C	2: 52,220,209	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790		probably benign	Het
Ralgapa1	A	G	12: 55,712,748	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666		probably benign	Het
Slc4a10	T	A	2: 62,296,988	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215		probably benign	Het
Strn3	T	A	12: 51,610,216	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780		probably benign	Het
Tril	T	A	6: 53,818,464	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793	F602I	probably damaging	Het

Other mutations in Accs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Accs	APN	2	93,839,242 (GRCm38)	splice site	probably benign
IGL02704:Accs	APN	2	93,842,926 (GRCm38)	missense	probably damaging	0.99
IGL02724:Accs	APN	2	93,845,776 (GRCm38)	missense	probably damaging	1.00
IGL02929:Accs	APN	2	93,844,221 (GRCm38)	missense	probably damaging	1.00
PIT4243001:Accs	UTSW	2	93,841,334 (GRCm38)	missense	probably benign
R0043:Accs	UTSW	2	93,841,885 (GRCm38)	missense	probably benign	0.03
R0644:Accs	UTSW	2	93,839,229 (GRCm38)	missense	probably damaging	1.00
R1712:Accs	UTSW	2	93,848,103 (GRCm38)	missense	probably damaging	0.96
R2215:Accs	UTSW	2	93,841,898 (GRCm38)	missense	probably benign	0.00
R4852:Accs	UTSW	2	93,844,260 (GRCm38)	missense	probably damaging	1.00
R4997:Accs	UTSW	2	93,841,883 (GRCm38)	nonsense	probably null
R5287:Accs	UTSW	2	93,835,953 (GRCm38)	missense	probably damaging	1.00
R5556:Accs	UTSW	2	93,836,083 (GRCm38)	missense	probably damaging	1.00
R5760:Accs	UTSW	2	93,845,760 (GRCm38)	missense	probably damaging	1.00
R5942:Accs	UTSW	2	93,836,047 (GRCm38)	missense	probably damaging	1.00
R5972:Accs	UTSW	2	93,839,227 (GRCm38)	missense	probably damaging	1.00
R6820:Accs	UTSW	2	93,842,921 (GRCm38)	missense	probably null	1.00
R7513:Accs	UTSW	2	93,840,092 (GRCm38)	missense	possibly damaging	0.94
R7861:Accs	UTSW	2	93,835,732 (GRCm38)	makesense	probably null
R7947:Accs	UTSW	2	93,844,257 (GRCm38)	missense	probably damaging	1.00
R8038:Accs	UTSW	2	93,842,917 (GRCm38)	critical splice donor site	probably null
R8404:Accs	UTSW	2	93,838,115 (GRCm38)	missense	probably damaging	1.00
R8502:Accs	UTSW	2	93,838,115 (GRCm38)	missense	probably damaging	1.00
R8876:Accs	UTSW	2	93,838,058 (GRCm38)	missense	probably damaging	1.00
R9211:Accs	UTSW	2	93,838,269 (GRCm38)	missense	probably damaging	1.00
R9369:Accs	UTSW	2	93,835,748 (GRCm38)	nonsense	probably null
Z1177:Accs	UTSW	2	93,848,153 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGCGAAGGCCCTCCATAG -3'
(R):5'- GGAAAGGGAAGCAGTCCTTC -3'

Sequencing Primer
(F):5'- GGCCCTCCATAGATACAGGATTCTG -3'
(R):5'- GAAGCAGTCCTTCCTGTTTTTCAGAG -3'

Posted On

2015-11-11