Mutagenetix > Incidental Mutation

Incidental Mutation 'R6465:Isoc1'

517799

Institutional Source

Beutler Lab

Gene Symbol

Isoc1

Ensembl Gene

ENSMUSG00000024601

Gene Name

isochorismatase domain containing 1

Synonyms

2610034N03Rik

MMRRC Submission

044598-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R6465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58792554-58812642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58804328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 119 (C119S)

Ref Sequence

ENSEMBL: ENSMUSP00000025503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025503]

AlphaFold

Q91V64

Predicted Effect

probably damaging
Transcript: ENSMUST00000025503
AA Change: C119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025503
Gene: ENSMUSG00000024601
AA Change: C119S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Isochorismatase	114	263	5.8e-28	PFAM

Meta Mutation Damage Score

0.9164

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,518,041 (GRCm39)	T1415I	probably damaging	Het
Acvr2b	T	A	9: 119,262,369 (GRCm39)	W461R	probably damaging	Het
Adam23	G	T	1: 63,605,827 (GRCm39)	C637F	probably damaging	Het
Apol8	T	G	15: 77,634,148 (GRCm39)	T143P	probably benign	Het
Bfsp1	A	C	2: 143,699,975 (GRCm39)		probably null	Het
Cytl1	T	C	5: 37,895,014 (GRCm39)	V99A	probably benign	Het
Dock2	A	T	11: 34,453,413 (GRCm39)	V793E	probably damaging	Het
Fxyd5	G	T	7: 30,737,305 (GRCm39)	T81K	probably damaging	Het
Gcm1	A	G	9: 77,972,151 (GRCm39)	Y364C	probably damaging	Het
Get3	A	T	8: 85,745,194 (GRCm39)	M291K	probably benign	Het
Haghl	T	C	17: 26,002,793 (GRCm39)	N190S	possibly damaging	Het
Inpp5j	C	A	11: 3,452,293 (GRCm39)	R319L	possibly damaging	Het
Ints10	A	G	8: 69,260,188 (GRCm39)	N304S	probably benign	Het
Klhl18	A	G	9: 110,257,988 (GRCm39)	M414T	probably benign	Het
Krtap2-4	A	G	11: 99,505,585 (GRCm39)		probably benign	Het
Krtap3-1	G	A	11: 99,457,277 (GRCm39)	P45S	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,711,887 (GRCm39)	V1754A	possibly damaging	Het
Nedd4l	T	A	18: 65,288,335 (GRCm39)	D119E	probably benign	Het
Nsun7	T	C	5: 66,452,929 (GRCm39)	V548A	probably benign	Het
Or5m12	A	T	2: 85,734,883 (GRCm39)	S172T	probably benign	Het
Or6b6	A	T	7: 106,571,419 (GRCm39)	V44E	possibly damaging	Het
Parvg	A	G	15: 84,213,141 (GRCm39)	D127G	probably damaging	Het
Pate13	A	T	9: 35,819,921 (GRCm39)	N25Y	possibly damaging	Het
Piezo2	T	A	18: 63,174,734 (GRCm39)	M2007L	possibly damaging	Het
Pou2f3	A	C	9: 43,051,162 (GRCm39)	F175V	probably damaging	Het
Ptprn2	T	C	12: 117,233,209 (GRCm39)	I958T	probably damaging	Het
Pwwp2b	T	C	7: 138,835,951 (GRCm39)	V464A	probably benign	Het
Pzp	A	G	6: 128,468,582 (GRCm39)	Y982H	probably damaging	Het
Rad17	T	A	13: 100,773,588 (GRCm39)	N202I	probably benign	Het
Rtel1	T	A	2: 180,977,733 (GRCm39)	D271E	possibly damaging	Het
Sos2	T	C	12: 69,643,549 (GRCm39)	S943G	probably benign	Het
Tdpoz6	A	G	3: 93,600,303 (GRCm39)	I22T	probably damaging	Het
Tm9sf2	A	G	14: 122,378,619 (GRCm39)	H241R	probably benign	Het
Ttc8	A	G	12: 98,930,829 (GRCm39)	E291G	probably damaging	Het
Unc93a2	G	T	17: 7,641,842 (GRCm39)	T202K	probably damaging	Het
Wfikkn1	A	G	17: 26,097,692 (GRCm39)	C211R	probably damaging	Het
Ylpm1	T	A	12: 85,096,576 (GRCm39)	D1219E	probably damaging	Het
Zc3hav1	T	C	6: 38,308,784 (GRCm39)	Y586C	possibly damaging	Het
Zcchc4	T	A	5: 52,976,618 (GRCm39)	F471I	probably benign	Het
Zfp719	C	A	7: 43,240,108 (GRCm39)	Y565*	probably null	Het

Other mutations in Isoc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02997:Isoc1	APN	18	58,804,516 (GRCm39)	splice site	probably benign
IGL03164:Isoc1	APN	18	58,806,404 (GRCm39)	missense	probably damaging	1.00
R1123:Isoc1	UTSW	18	58,804,695 (GRCm39)	missense	probably benign	0.06
R4896:Isoc1	UTSW	18	58,806,350 (GRCm39)	missense	probably damaging	0.98
R6178:Isoc1	UTSW	18	58,804,664 (GRCm39)	missense	possibly damaging	0.95
R6953:Isoc1	UTSW	18	58,804,374 (GRCm39)	missense	possibly damaging	0.95
R9145:Isoc1	UTSW	18	58,806,347 (GRCm39)	missense	possibly damaging	0.80
R9372:Isoc1	UTSW	18	58,792,757 (GRCm39)	missense	possibly damaging	0.92
R9390:Isoc1	UTSW	18	58,804,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAGGTGGTAATTCACTTCATC -3'
(R):5'- TCCTTGCAACTGAAAAGCATC -3'

Sequencing Primer
(F):5'- AGGTGGTAATTCACTTCATCTCTTG -3'
(R):5'- CCGTGCTTCAGACAATTG -3'

Posted On

2018-05-21