Mutagenetix > Incidental Mutations

Incidental Mutation 'R2859:Ism2'

334560

Institutional Source

Beutler Lab

Gene Symbol

Ism2

Ensembl Gene

ENSMUSG00000050671

Gene Name

isthmin 2

Synonyms

Thsd3, LOC217738

MMRRC Submission

040449-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2859 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87278638-87299705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87299663 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 15 (M15V)

Ref Sequence

ENSEMBL: ENSMUSP00000117108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125733]

Predicted Effect

unknown
Transcript: ENSMUST00000125733
AA Change: M15V

SMART Domains

Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: M15V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	96	112	N/A	INTRINSIC
TSP1	250	292	3.9e-7	SMART
AMOP	317	481	1.21e-75	SMART

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,281,314	Y1301C	possibly damaging	Het
Amfr	A	T	8: 94,005,214	N11K	probably damaging	Het
C87977	A	G	4: 144,209,622	S23P	probably benign	Het
Cadm3	A	G	1: 173,346,545	S34P	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh23	C	T	10: 60,382,653		probably null	Het
Ceacam1	T	A	7: 25,474,017	I249F	probably damaging	Het
Cuzd1	C	T	7: 131,316,134	V246M	probably damaging	Het
Ehd2	A	T	7: 15,964,129	V61E	probably damaging	Het
Fam71b	T	C	11: 46,405,212	I137T	probably damaging	Het
Fibin	C	T	2: 110,362,197	R200H	probably damaging	Het
Fmo9	A	C	1: 166,673,667	F237C	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Iqgap3	C	A	3: 88,107,596	S873*	probably null	Het
Itk	T	G	11: 46,344,835		probably benign	Het
Mastl	C	A	2: 23,139,967	C249F	probably damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Mrgprb4	T	A	7: 48,198,336	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,288,925	Y258H	probably damaging	Het
Ntmt1	A	G	2: 30,822,365	H140R	probably damaging	Het
Olfr139	C	T	11: 74,044,827	G149D	possibly damaging	Het
Olfr311	T	A	11: 58,841,882	V256E	probably benign	Het
Olfr340	T	C	2: 36,453,130	S182P	probably benign	Het
Olfr401	T	C	11: 74,121,982	I231T	probably damaging	Het
Parm1	A	G	5: 91,594,306	T178A	possibly damaging	Het
Patl1	T	C	19: 11,923,831	F282L	probably damaging	Het
Phospho2	T	C	2: 69,795,851	V117A	possibly damaging	Het
Ppp4r3a	T	C	12: 101,042,647		probably null	Het
Rbm17	A	G	2: 11,590,704	F230S	possibly damaging	Het
Robo3	C	A	9: 37,428,104	G196*	probably null	Het
Samhd1	A	G	2: 157,106,229		probably null	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Thbs4	A	G	13: 92,790,708	F91S	probably benign	Het
Trim34b	A	T	7: 104,336,232	N358I	probably benign	Het
Ulk1	A	G	5: 110,794,629	L255P	probably damaging	Het
Vmn2r104	T	A	17: 20,048,193	I5F	possibly damaging	Het
Vrk2	C	A	11: 26,483,324	S286I	possibly damaging	Het
Zswim3	T	C	2: 164,820,389	L263P	probably damaging	Het

Other mutations in Ism2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4243001:Ism2	UTSW	12	87287058	missense	probably benign	0.00
R0544:Ism2	UTSW	12	87285339	missense	probably damaging	1.00
R0747:Ism2	UTSW	12	87285398	splice site	probably benign
R2258:Ism2	UTSW	12	87280074	missense	possibly damaging	0.92
R3423:Ism2	UTSW	12	87287097	missense	probably benign	0.00
R3425:Ism2	UTSW	12	87287097	missense	probably benign	0.00
R4115:Ism2	UTSW	12	87287031	missense	probably benign	0.02
R4713:Ism2	UTSW	12	87285027	splice site	silent
R4769:Ism2	UTSW	12	87299581	missense	probably benign	0.06
R5313:Ism2	UTSW	12	87279762	missense	probably damaging	1.00
R5857:Ism2	UTSW	12	87280061	missense	probably damaging	1.00
R5984:Ism2	UTSW	12	87287035	missense	possibly damaging	0.77
R6389:Ism2	UTSW	12	87282371	missense	possibly damaging	0.49
R6838:Ism2	UTSW	12	87280201	missense	probably benign	0.23
R7019:Ism2	UTSW	12	87299663	missense	unknown
R7358:Ism2	UTSW	12	87280040	missense	probably damaging	1.00
R7427:Ism2	UTSW	12	87286995	missense	possibly damaging	0.76
R7428:Ism2	UTSW	12	87286995	missense	possibly damaging	0.76
R7777:Ism2	UTSW	12	87286884	splice site	probably null
R7824:Ism2	UTSW	12	87279860	missense	probably damaging	1.00
Z1177:Ism2	UTSW	12	87280035	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGAGTGTAAACTCCTGCG -3'
(R):5'- TTTCCCGGGACAGGAATTC -3'

Sequencing Primer
(F):5'- TAAACTCCTGCGGGCTCAGTG -3'
(R):5'- ACAGGAATTCGCTTGGGGC -3'

Posted On

2015-09-02