Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Accsl'

429917

Institutional Source

Beutler Lab

Gene Symbol

Accsl

Ensembl Gene

ENSMUSG00000075023

Gene Name

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

Synonyms

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93685706-93699502 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93689767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

Ref Sequence

ENSEMBL: ENSMUSP00000097281 (fasta)

Gene Model

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

AlphaFold

Q3UX83

Predicted Effect

probably damaging
Transcript: ENSMUST00000099690
AA Change: D380G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097281
Gene: ENSMUSG00000075023
AA Change: D380G

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

noncoding transcript
Transcript: ENSMUST00000129248

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151579

Meta Mutation Damage Score

0.6133

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	T	C	5: 90,699,257 (GRCm39)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,348,686 (GRCm39)	I785L	probably damaging	Het
Arpc5l	G	A	2: 38,903,747 (GRCm39)	G79S	probably benign	Het
Arvcf	G	T	16: 18,217,820 (GRCm39)	R440L	probably benign	Het
Atm	T	C	9: 53,414,318 (GRCm39)	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,679,060 (GRCm39)		probably null	Het
Cd19	C	T	7: 126,013,624 (GRCm39)	G55D	probably benign	Het
Cd34	A	G	1: 194,621,266 (GRCm39)		probably benign	Het
Cd69	T	A	6: 129,246,954 (GRCm39)	M88L	probably benign	Het
Ces2h	A	G	8: 105,745,057 (GRCm39)	E397G	probably benign	Het
Ddx60	T	C	8: 62,463,036 (GRCm39)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 148,901,514 (GRCm39)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,164,185 (GRCm39)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,529,247 (GRCm39)	N1027Y	probably damaging	Het
En1	A	G	1: 120,531,324 (GRCm39)	D188G	probably damaging	Het
Epha10	C	T	4: 124,807,914 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,623,388 (GRCm39)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,855,039 (GRCm39)		probably null	Het
Kansl3	A	G	1: 36,397,230 (GRCm39)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,331,918 (GRCm39)	F73L	probably damaging	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,721,749 (GRCm39)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,721,750 (GRCm39)	L98Q	probably damaging	Het
Myo3b	T	A	2: 69,935,724 (GRCm39)	C97S	probably damaging	Het
Neto1	A	G	18: 86,414,033 (GRCm39)	H9R	possibly damaging	Het
Omd	A	T	13: 49,745,703 (GRCm39)	E371V	probably benign	Het
Or1n2	A	T	2: 36,797,833 (GRCm39)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,623,146 (GRCm39)	T282A	possibly damaging	Het
Or4c123	T	C	2: 89,127,257 (GRCm39)	D119G	probably damaging	Het
Or51e2	G	A	7: 102,391,637 (GRCm39)	T191I	probably benign	Het
Osbpl9	G	T	4: 108,919,497 (GRCm39)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,401,951 (GRCm39)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,620,219 (GRCm39)	S198P	probably damaging	Het
Recql	T	G	6: 142,308,073 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,184,712 (GRCm39)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,438,100 (GRCm39)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,598,974 (GRCm39)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm39)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,278,777 (GRCm39)	C37*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,594,954 (GRCm39)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,367 (GRCm39)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,288,585 (GRCm39)	T80A	probably benign	Het
Tmc1	A	G	19: 20,781,966 (GRCm39)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,654,494 (GRCm39)	F324L	probably benign	Het
Usp19	T	C	9: 108,377,392 (GRCm39)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wrn	C	T	8: 33,784,945 (GRCm39)	V476I	probably benign	Het
Zbed6	G	A	1: 133,585,879 (GRCm39)	T486I	probably damaging	Het
Zbtb25	C	A	12: 76,396,476 (GRCm39)	E249*	probably null	Het
Zfp54	C	A	17: 21,653,962 (GRCm39)	T152K	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
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
R7564:Accsl	UTSW	2	93,688,501 (GRCm39)	missense	possibly damaging	0.83
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'- ATGGCACTTGGACTCCACAC -3'
(R):5'- ACCATGCAGAGAGTGTAAGC -3'

Sequencing Primer
(F):5'- TTGGACTCCACACTCTCGAGAG -3'
(R):5'- CATAGGCTTGGGCTCACAGAC -3'

Posted On

2016-09-06