Mutagenetix > Incidental Mutation

Incidental Mutation 'R1123:Isoc1'

95908

Institutional Source

Beutler Lab

Gene Symbol

Isoc1

Ensembl Gene

ENSMUSG00000024601

Gene Name

isochorismatase domain containing 1

Synonyms

2610034N03Rik

MMRRC Submission

039196-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R1123 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58792554-58812642 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58804695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 201 (V201A)

Ref Sequence

ENSEMBL: ENSMUSP00000025503 (fasta)

Gene Model

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

AlphaFold

Q91V64

Predicted Effect

probably benign
Transcript: ENSMUST00000025503
AA Change: V201A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025503
Gene: ENSMUSG00000024601
AA Change: V201A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,154,906 (GRCm39)	M987K	probably benign	Het
Akap3	A	G	6: 126,842,929 (GRCm39)	D516G	probably benign	Het
Arhgap12	A	C	18: 6,031,822 (GRCm39)	V573G	probably damaging	Het
Ccdc122	T	C	14: 77,305,351 (GRCm39)	S2P	probably damaging	Het
Cel	T	C	2: 28,446,752 (GRCm39)	Y473C	probably damaging	Het
Cfap157	C	T	2: 32,667,935 (GRCm39)	V469M	possibly damaging	Het
Cyp2c40	C	G	19: 39,801,121 (GRCm39)	V45L	probably benign	Het
Dtx3l	C	T	16: 35,753,638 (GRCm39)	A323T	probably damaging	Het
Erap1	A	G	13: 74,821,762 (GRCm39)	T706A	probably benign	Het
Esyt1	A	T	10: 128,352,427 (GRCm39)	V728E	probably benign	Het
Etnk2	A	G	1: 133,301,010 (GRCm39)	D259G	probably benign	Het
Evi5	T	G	5: 107,968,444 (GRCm39)	I184L	probably benign	Het
Fem1a	G	C	17: 56,564,791 (GRCm39)	D295H	probably damaging	Het
Hectd4	T	C	5: 121,424,799 (GRCm39)	F83S	probably damaging	Het
Hephl1	T	C	9: 14,991,436 (GRCm39)	T601A	probably benign	Het
Kcnt2	A	T	1: 140,501,346 (GRCm39)	D830V	probably damaging	Het
Lrfn1	G	T	7: 28,166,544 (GRCm39)	C646F	possibly damaging	Het
Nbeal1	T	C	1: 60,299,428 (GRCm39)	Y1255H	probably benign	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Or4c120	A	G	2: 89,001,212 (GRCm39)	S115P	possibly damaging	Het
Or5k16	A	T	16: 58,736,697 (GRCm39)	Y102*	probably null	Het
Or9m1	A	C	2: 87,733,248 (GRCm39)	I257M	probably damaging	Het
Pik3r4	G	A	9: 105,540,328 (GRCm39)	A739T	probably benign	Het
Prpf8	T	C	11: 75,386,111 (GRCm39)	V920A	probably damaging	Het
Slc16a7	A	C	10: 125,067,016 (GRCm39)	S208A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc35g2	A	T	9: 100,435,047 (GRCm39)	I208N	probably damaging	Het
Suclg1	A	G	6: 73,233,210 (GRCm39)	I51V	probably benign	Het
Thoc2l	T	C	5: 104,666,336 (GRCm39)	L286P	probably damaging	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
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
R6465:Isoc1	UTSW	18	58,804,328 (GRCm39)	missense	probably damaging	1.00
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'- AAGGTTCCGTCCAGCCATCAAATAC -3'
(R):5'- TGTCTTCCAAAGCAGGCAGCAG -3'

Sequencing Primer
(F):5'- TCCAATTGTCTGAAGCACGG -3'
(R):5'- cagccccgctcactcac -3'

Posted On

2014-01-05