Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Accs'

607484

Institutional Source

Beutler Lab

Gene Symbol

Accs

Ensembl Gene

ENSMUSG00000040272

Gene Name

1-aminocyclopropane-1-carboxylate synthase (inactive)

Synonyms

2610203E10Rik

MMRRC Submission

045914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93663812-93680288 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

C to A at 93666077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Leucine at position 503 (*503L)

Ref Sequence

ENSEMBL: ENSMUSP00000106877 (fasta)

Gene Model

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

AlphaFold

A2AIG8

Predicted Effect

probably null
Transcript: ENSMUST00000041593
AA Change: *480L

SMART Domains

Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: *480L

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 null
Transcript: ENSMUST00000068513
AA Change: *480L

SMART Domains

Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: *480L

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 null
Transcript: ENSMUST00000111246
AA Change: *503L

SMART Domains

Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: *503L

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

probably benign
Transcript: ENSMUST00000150666

SMART Domains

Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,797,360 (GRCm39)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,248,075 (GRCm39)	D1175G	probably null	Het
Adgra2	A	G	8: 27,604,485 (GRCm39)	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,681,525 (GRCm39)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,706,990 (GRCm39)	D9A	unknown	Het
Atad2	G	A	15: 57,989,176 (GRCm39)	A228V	probably benign	Het
Atp10a	T	C	7: 58,438,107 (GRCm39)	S430P	probably damaging	Het
Atp1a3	T	C	7: 24,700,573 (GRCm39)	D6G	unknown	Het
Brca1	A	T	11: 101,417,248 (GRCm39)	N295K	possibly damaging	Het
Caly	C	A	7: 139,661,301 (GRCm39)		probably benign	Het
Ces1h	A	G	8: 94,084,053 (GRCm39)	Y386H	unknown	Het
Col14a1	A	G	15: 55,308,012 (GRCm39)	D1044G	unknown	Het
Csf2rb	A	G	15: 78,233,357 (GRCm39)	D888G	probably damaging	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dhrs7b	T	A	11: 60,746,568 (GRCm39)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,444,324 (GRCm39)	P545S	probably damaging	Het
Dnajc24	A	T	2: 105,832,380 (GRCm39)	M1K	probably null	Het
Dusp12	C	T	1: 170,702,095 (GRCm39)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,492,575 (GRCm39)	G603*	probably null	Het
Eif4g1	T	A	16: 20,498,452 (GRCm39)	V403E	probably benign	Het
Epn3	T	C	11: 94,387,100 (GRCm39)	E90G	probably damaging	Het
Etl4	A	G	2: 20,810,721 (GRCm39)	S1303G	probably benign	Het
Evpl	A	T	11: 116,118,895 (GRCm39)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,493,625 (GRCm39)	L22*	probably null	Het
Fcamr	T	A	1: 130,742,375 (GRCm39)	N587K	probably benign	Het
Fgd6	A	G	10: 93,939,193 (GRCm39)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,523,148 (GRCm39)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,550,280 (GRCm39)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,487,105 (GRCm39)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm39)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,458,788 (GRCm39)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,420,623 (GRCm39)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,917,322 (GRCm39)	D617E	probably damaging	Het
Kifc3	T	A	8: 95,834,165 (GRCm39)		probably null	Het
Kirrel3	C	T	9: 34,931,419 (GRCm39)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,443,820 (GRCm39)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,730,031 (GRCm39)	S3429P	unknown	Het
Lama1	T	G	17: 68,116,216 (GRCm39)	L2361R		Het
Lrp1b	T	C	2: 40,587,570 (GRCm39)	D3895G		Het
Mcoln3	A	C	3: 145,830,546 (GRCm39)	E92A	possibly damaging	Het
Myo3b	T	C	2: 69,939,032 (GRCm39)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,835,204 (GRCm39)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,567,056 (GRCm39)	S541P	probably benign	Het
Nup54	T	C	5: 92,578,952 (GRCm39)	T33A	unknown	Het
Or10al2	C	A	17: 37,983,408 (GRCm39)	Q165K	possibly damaging	Het
Or13a17	T	G	7: 140,271,484 (GRCm39)	I222S	probably damaging	Het
Or1s2	T	C	19: 13,758,810 (GRCm39)	V276A	possibly damaging	Het
Or4k42	T	A	2: 111,320,369 (GRCm39)	I45F	probably damaging	Het
Or51a5	T	A	7: 102,771,899 (GRCm39)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm39)	C18R	probably benign	Het
Pde4d	A	G	13: 110,071,858 (GRCm39)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pidd1	C	A	7: 141,020,055 (GRCm39)	W598L	probably damaging	Het
Pira2	A	T	7: 3,847,543 (GRCm39)	C49S	probably damaging	Het
Pramel11	T	C	4: 143,624,288 (GRCm39)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,550,935 (GRCm39)	D135E	probably benign	Het
Rab15	T	A	12: 76,849,903 (GRCm39)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,715,256 (GRCm39)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,301,406 (GRCm39)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,295,666 (GRCm39)	Q119*	probably null	Het
Suclg2	G	T	6: 95,571,703 (GRCm39)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,227,161 (GRCm39)	M1282K	probably benign	Het
Tbc1d5	T	A	17: 51,063,720 (GRCm39)	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,709,590 (GRCm39)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,087,435 (GRCm39)	F1184Y	probably benign	Het
Trim28	T	A	7: 12,762,339 (GRCm39)	V321E	possibly damaging	Het
Trim5	C	A	7: 103,915,675 (GRCm39)		probably null	Het
Ugt2b37	A	T	5: 87,390,299 (GRCm39)	Y382*	probably null	Het
Usp40	C	T	1: 87,909,852 (GRCm39)	G534D	probably damaging	Het
Usp53	A	T	3: 122,728,112 (GRCm39)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,235,829 (GRCm39)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,449,351 (GRCm39)	I296F	probably benign	Het
Vps13a	T	C	19: 16,632,668 (GRCm39)	S2563G	probably damaging	Het
Wdr59	A	G	8: 112,220,912 (GRCm39)	F207L		Het
Zan	A	G	5: 137,405,295 (GRCm39)	S3777P	unknown	Het
Zfp277	T	C	12: 40,365,880 (GRCm39)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,745,749 (GRCm39)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,013,288 (GRCm39)	H452L	probably damaging	Het
Zftraf1	C	T	15: 76,532,386 (GRCm39)	D241N	probably benign	Het
Zfyve28	A	T	5: 34,374,487 (GRCm39)	L509Q	probably damaging	Het

Other mutations in Accs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Accs	APN	2	93,669,587 (GRCm39)	splice site	probably benign
IGL02704:Accs	APN	2	93,673,271 (GRCm39)	missense	probably damaging	0.99
IGL02724:Accs	APN	2	93,676,121 (GRCm39)	missense	probably damaging	1.00
IGL02929:Accs	APN	2	93,674,566 (GRCm39)	missense	probably damaging	1.00
PIT4243001:Accs	UTSW	2	93,671,679 (GRCm39)	missense	probably benign
R0043:Accs	UTSW	2	93,672,230 (GRCm39)	missense	probably benign	0.03
R0644:Accs	UTSW	2	93,669,574 (GRCm39)	missense	probably damaging	1.00
R1712:Accs	UTSW	2	93,678,448 (GRCm39)	missense	probably damaging	0.96
R2215:Accs	UTSW	2	93,672,243 (GRCm39)	missense	probably benign	0.00
R4755:Accs	UTSW	2	93,671,682 (GRCm39)	missense	probably damaging	1.00
R4852:Accs	UTSW	2	93,674,605 (GRCm39)	missense	probably damaging	1.00
R4997:Accs	UTSW	2	93,672,228 (GRCm39)	nonsense	probably null
R5287:Accs	UTSW	2	93,666,298 (GRCm39)	missense	probably damaging	1.00
R5556:Accs	UTSW	2	93,666,428 (GRCm39)	missense	probably damaging	1.00
R5760:Accs	UTSW	2	93,676,105 (GRCm39)	missense	probably damaging	1.00
R5942:Accs	UTSW	2	93,666,392 (GRCm39)	missense	probably damaging	1.00
R5972:Accs	UTSW	2	93,669,572 (GRCm39)	missense	probably damaging	1.00
R6820:Accs	UTSW	2	93,673,266 (GRCm39)	missense	probably null	1.00
R7513:Accs	UTSW	2	93,670,437 (GRCm39)	missense	possibly damaging	0.94
R7947:Accs	UTSW	2	93,674,602 (GRCm39)	missense	probably damaging	1.00
R8038:Accs	UTSW	2	93,673,262 (GRCm39)	critical splice donor site	probably null
R8404:Accs	UTSW	2	93,668,460 (GRCm39)	missense	probably damaging	1.00
R8502:Accs	UTSW	2	93,668,460 (GRCm39)	missense	probably damaging	1.00
R8876:Accs	UTSW	2	93,668,403 (GRCm39)	missense	probably damaging	1.00
R9211:Accs	UTSW	2	93,668,614 (GRCm39)	missense	probably damaging	1.00
R9369:Accs	UTSW	2	93,666,093 (GRCm39)	nonsense	probably null
Z1177:Accs	UTSW	2	93,678,498 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCATCCTGCTGATCCTAATC -3'
(R):5'- TGAGCAGTCTCTTCCTCCAG -3'

Sequencing Primer
(F):5'- GCTGATCCTAATCCTGTTGAATAC -3'
(R):5'- GCCTCCCCACAGCATCCTC -3'

Posted On

2019-12-20