Mutagenetix > Incidental Mutation

Incidental Mutation 'R7824:Ism2'

602085

Institutional Source

Beutler Lab

Gene Symbol

Ism2

Ensembl Gene

ENSMUSG00000050671

Gene Name

isthmin 2

Synonyms

LOC217738, Thsd3

MMRRC Submission

045878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87325412-87346479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87326634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 435 (V435G)

Ref Sequence

ENSEMBL: ENSMUSP00000117108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051601] [ENSMUST00000125733]

AlphaFold

D3Z6A3

Predicted Effect

probably damaging
Transcript: ENSMUST00000051601
AA Change: V391G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: V391G

Domain	Start	End	E-Value	Type
low complexity region	52	68	N/A	INTRINSIC
TSP1	206	248	3.9e-7	SMART
AMOP	273	437	1.21e-75	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125733
AA Change: V435G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: V435G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,275 (GRCm39)	R396G	probably damaging	Het
Arhgap40	A	T	2: 158,376,666 (GRCm39)	R267S	probably damaging	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,457,448 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Farsb	T	C	1: 78,445,936 (GRCm39)	N148D	probably benign	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ica1l	T	G	1: 60,047,029 (GRCm39)	M241L	probably benign	Het
Ighg3	A	T	12: 113,323,426 (GRCm39)	D283E		Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Klhdc2	A	G	12: 69,354,002 (GRCm39)	H271R	probably damaging	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Map3k21	C	G	8: 126,637,702 (GRCm39)	P96R	probably benign	Het
Mfge8	G	T	7: 78,795,135 (GRCm39)		probably null	Het
Mical2	T	A	7: 112,006,844 (GRCm39)	Y588N	probably damaging	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Mybpc2	G	A	7: 44,154,284 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Or6c5c	A	G	10: 129,298,665 (GRCm39)	N40S	probably damaging	Het
Ovch2	A	G	7: 107,388,295 (GRCm39)		probably null	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rin2	T	A	2: 145,703,037 (GRCm39)	S533T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Speg	T	A	1: 75,360,661 (GRCm39)		probably null	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tpgs2	G	T	18: 25,262,922 (GRCm39)	F232L	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Ubr5	A	T	15: 37,991,566 (GRCm39)	H1992Q	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Vwf	A	G	6: 125,635,778 (GRCm39)	K270E		Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het

Other mutations in Ism2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Aedes	UTSW	12	87,326,969 (GRCm39)	missense	probably damaging	1.00
canal	UTSW	12	87,326,835 (GRCm39)	missense	probably damaging	1.00
narrows	UTSW	12	87,332,113 (GRCm39)	missense	probably damaging	1.00
panamin	UTSW	12	87,333,658 (GRCm39)	splice site	probably null
Zone	UTSW	12	87,346,437 (GRCm39)	missense	unknown
PIT4243001:Ism2	UTSW	12	87,333,832 (GRCm39)	missense	probably benign	0.00
R0544:Ism2	UTSW	12	87,332,113 (GRCm39)	missense	probably damaging	1.00
R0747:Ism2	UTSW	12	87,332,172 (GRCm39)	splice site	probably benign
R2258:Ism2	UTSW	12	87,326,848 (GRCm39)	missense	possibly damaging	0.92
R2859:Ism2	UTSW	12	87,346,437 (GRCm39)	missense	unknown
R3423:Ism2	UTSW	12	87,333,871 (GRCm39)	missense	probably benign	0.00
R3425:Ism2	UTSW	12	87,333,871 (GRCm39)	missense	probably benign	0.00
R4115:Ism2	UTSW	12	87,333,805 (GRCm39)	missense	probably benign	0.02
R4713:Ism2	UTSW	12	87,331,801 (GRCm39)	splice site	silent
R4769:Ism2	UTSW	12	87,346,355 (GRCm39)	missense	probably benign	0.06
R5313:Ism2	UTSW	12	87,326,536 (GRCm39)	missense	probably damaging	1.00
R5857:Ism2	UTSW	12	87,326,835 (GRCm39)	missense	probably damaging	1.00
R5984:Ism2	UTSW	12	87,333,809 (GRCm39)	missense	possibly damaging	0.77
R6389:Ism2	UTSW	12	87,329,145 (GRCm39)	missense	possibly damaging	0.49
R6838:Ism2	UTSW	12	87,326,975 (GRCm39)	missense	probably benign	0.23
R7019:Ism2	UTSW	12	87,346,437 (GRCm39)	missense	unknown
R7358:Ism2	UTSW	12	87,326,814 (GRCm39)	missense	probably damaging	1.00
R7427:Ism2	UTSW	12	87,333,769 (GRCm39)	missense	possibly damaging	0.76
R7428:Ism2	UTSW	12	87,333,769 (GRCm39)	missense	possibly damaging	0.76
R7777:Ism2	UTSW	12	87,333,658 (GRCm39)	splice site	probably null
R7973:Ism2	UTSW	12	87,333,769 (GRCm39)	missense	possibly damaging	0.76
R9006:Ism2	UTSW	12	87,326,969 (GRCm39)	missense	probably damaging	1.00
R9274:Ism2	UTSW	12	87,331,827 (GRCm39)	nonsense	probably null
R9306:Ism2	UTSW	12	87,333,826 (GRCm39)	missense	probably benign	0.45
Z1177:Ism2	UTSW	12	87,326,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGGAGCATGCTCTAATTCC -3'
(R):5'- AACATCAGGGTCGCAGCTTC -3'

Sequencing Primer
(F):5'- AGGAGCATGCTCTAATTCCTCTTTAG -3'
(R):5'- AGGGTCGCAGCTTCCAGTG -3'

Posted On

2019-12-03