Mutagenetix > Incidental Mutation

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 (GRCm38)

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]

AlphaFold

D3Z6A3

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	1814	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
Aedes	UTSW	12	87280195	missense	probably damaging	1.00
canal	UTSW	12	87280061	missense	probably damaging	1.00
narrows	UTSW	12	87285339	missense	probably damaging	1.00
panamin	UTSW	12	87286884	splice site	probably null
Zone	UTSW	12	87299663	missense	unknown
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
R7973:Ism2	UTSW	12	87286995	missense	possibly damaging	0.76
R9006:Ism2	UTSW	12	87280195	missense	probably damaging	1.00
R9274:Ism2	UTSW	12	87285053	nonsense	probably null
R9306:Ism2	UTSW	12	87287052	missense	probably benign	0.45
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