Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Accsl'

585296

Institutional Source

Beutler Lab

Gene Symbol

Accsl

Ensembl Gene

ENSMUSG00000075023

Gene Name

1-aminocyclopropane-1-carboxylate synthase (inactive)-like

Synonyms

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93685706-93699502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93688501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 411 (M411K)

Ref Sequence

ENSEMBL: ENSMUSP00000097281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099690]

AlphaFold

Q3UX83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099690
AA Change: M411K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097281
Gene: ENSMUSG00000075023
AA Change: M411K

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC
Pfam:Aminotran_1_2	190	568	6.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132722

SMART Domains

Protein: ENSMUSP00000121623
Gene: ENSMUSG00000075023

Domain	Start	End	E-Value	Type
SCOP:d1gdea_	2	79	4e-10	SMART
PDB:1IAY\|A	16	58	3e-6	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	G	A	9: 104,000,288 (GRCm39)	E681K	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Bag4	G	A	8: 26,267,507 (GRCm39)	R108*	probably null	Het
Cpa1	C	T	6: 30,641,767 (GRCm39)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,418,218 (GRCm39)	V50A	probably benign	Het
Dact1	A	G	12: 71,365,325 (GRCm39)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,588,297 (GRCm39)	V499I	probably damaging	Het
Depdc5	T	G	5: 33,058,854 (GRCm39)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,570,817 (GRCm39)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,170,272 (GRCm39)		probably benign	Het
Efcab14	C	A	4: 115,617,159 (GRCm39)	S289R	probably benign	Het
Fmn2	T	C	1: 174,437,140 (GRCm39)	L1037P	unknown	Het
Fsip2	G	A	2: 82,819,361 (GRCm39)	M5031I	probably benign	Het
Gm19410	A	G	8: 36,274,151 (GRCm39)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,261,499 (GRCm39)	Q44K		Het
Hdgfl2	T	A	17: 56,406,860 (GRCm39)	D591E	unknown	Het
Hk3	C	A	13: 55,159,209 (GRCm39)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,531,586 (GRCm39)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,743,337 (GRCm39)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,500,612 (GRCm39)	V659A	probably benign	Het
Lhb	C	T	7: 45,071,101 (GRCm39)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,798,854 (GRCm39)	I267T	probably benign	Het
Lypla1	T	A	1: 4,878,590 (GRCm39)		probably null	Het
Map3k21	T	C	8: 126,654,447 (GRCm39)		probably null	Het
Mapkbp1	A	G	2: 119,844,232 (GRCm39)	T319A	probably benign	Het
Mms19	T	C	19: 41,935,455 (GRCm39)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,911,495 (GRCm39)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,678,322 (GRCm39)	R668H	probably benign	Het
Myo5b	G	A	18: 74,767,582 (GRCm39)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,157,449 (GRCm39)	L412Q	probably damaging	Het
Nrtn	T	C	17: 57,058,473 (GRCm39)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,670,334 (GRCm39)	Q1134K	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or51t4	C	T	7: 102,598,473 (GRCm39)	P267L	probably damaging	Het
Pick1	T	C	15: 79,139,781 (GRCm39)	V360A	unknown	Het
Pigr	T	A	1: 130,769,403 (GRCm39)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,107,765 (GRCm39)	N96S	probably benign	Het
Pramel29	C	A	4: 143,939,525 (GRCm39)	C4F	probably damaging	Het
Qrfprl	G	T	6: 65,429,891 (GRCm39)	E196*	probably null	Het
Rasa1	T	C	13: 85,376,827 (GRCm39)	T603A	probably benign	Het
Rhd	T	C	4: 134,603,770 (GRCm39)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,887,415 (GRCm39)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,795,760 (GRCm39)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,044,937 (GRCm39)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,053,498 (GRCm39)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,638,108 (GRCm39)	V178D	probably damaging	Het
Smad7	C	A	18: 75,526,906 (GRCm39)	L251I	probably benign	Het
Sspo	G	A	6: 48,426,434 (GRCm39)	S151N	probably benign	Het
St3gal4	C	T	9: 34,963,549 (GRCm39)	R253Q	probably benign	Het
Trappc14	C	A	5: 138,261,104 (GRCm39)		probably null	Het
Ttbk1	T	C	17: 46,787,857 (GRCm39)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,798,864 (GRCm39)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm39)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,137,530 (GRCm39)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,752,740 (GRCm39)	C514*	probably null	Het
Zfp236	A	T	18: 82,662,366 (GRCm39)	C570*	probably null	Het
Zfp277	T	A	12: 40,379,594 (GRCm39)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,544,967 (GRCm39)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,248,954 (GRCm39)		probably benign	Het

Other mutations in Accsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Accsl	APN	2	93,696,253 (GRCm39)	missense	possibly damaging	0.46
IGL02511:Accsl	APN	2	93,692,111 (GRCm39)	unclassified	probably benign
IGL03248:Accsl	APN	2	93,693,129 (GRCm39)	unclassified	probably benign
IGL03338:Accsl	APN	2	93,686,092 (GRCm39)	missense	probably benign	0.34
R0323:Accsl	UTSW	2	93,691,425 (GRCm39)	missense	probably benign	0.27
R0449:Accsl	UTSW	2	93,696,419 (GRCm39)	missense	probably benign	0.00
R1172:Accsl	UTSW	2	93,696,589 (GRCm39)	splice site	probably benign
R1173:Accsl	UTSW	2	93,696,589 (GRCm39)	splice site	probably benign
R1175:Accsl	UTSW	2	93,696,589 (GRCm39)	splice site	probably benign
R1752:Accsl	UTSW	2	93,688,375 (GRCm39)	missense	probably damaging	1.00
R1952:Accsl	UTSW	2	93,689,778 (GRCm39)	missense	probably damaging	1.00
R2877:Accsl	UTSW	2	93,689,755 (GRCm39)	missense	probably damaging	0.99
R2878:Accsl	UTSW	2	93,689,755 (GRCm39)	missense	probably damaging	0.99
R4472:Accsl	UTSW	2	93,694,337 (GRCm39)	splice site	probably null
R4472:Accsl	UTSW	2	93,694,336 (GRCm39)	critical splice acceptor site	probably null
R5400:Accsl	UTSW	2	93,689,767 (GRCm39)	missense	probably damaging	0.99
R5502:Accsl	UTSW	2	93,687,289 (GRCm39)	critical splice donor site	probably null
R5610:Accsl	UTSW	2	93,692,118 (GRCm39)	critical splice donor site	probably null
R5636:Accsl	UTSW	2	93,699,370 (GRCm39)	missense	probably benign	0.41
R5799:Accsl	UTSW	2	93,694,748 (GRCm39)	splice site	probably null
R6376:Accsl	UTSW	2	93,687,343 (GRCm39)	missense	probably damaging	1.00
R6913:Accsl	UTSW	2	93,696,488 (GRCm39)	missense	possibly damaging	0.66
R7311:Accsl	UTSW	2	93,696,160 (GRCm39)	missense	possibly damaging	0.51
R7731:Accsl	UTSW	2	93,691,363 (GRCm39)	missense	probably benign	0.01
R7835:Accsl	UTSW	2	93,696,329 (GRCm39)	nonsense	probably null
R8184:Accsl	UTSW	2	93,686,086 (GRCm39)	missense	probably benign	0.19
R8305:Accsl	UTSW	2	93,696,423 (GRCm39)	missense	probably benign	0.00
R8824:Accsl	UTSW	2	93,693,195 (GRCm39)	missense	probably damaging	1.00
R8868:Accsl	UTSW	2	93,696,490 (GRCm39)	missense	probably benign	0.00
R8954:Accsl	UTSW	2	93,688,299 (GRCm39)	missense	probably benign	0.06
R9172:Accsl	UTSW	2	93,691,833 (GRCm39)	missense	probably damaging	1.00
R9473:Accsl	UTSW	2	93,686,092 (GRCm39)	missense	probably benign	0.03
R9513:Accsl	UTSW	2	93,699,498 (GRCm39)	unclassified	probably benign
Z1088:Accsl	UTSW	2	93,696,293 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCATGGTGGTAGCCAAAAGC -3'
(R):5'- CTCTAGCTTAGCTGTCACCAGTG -3'

Sequencing Primer
(F):5'- AGCTTTCATGGCAGAGGCTAC -3'
(R):5'- CAGTGTCTCTTGAACCTGGACATG -3'

Posted On

2019-10-17