Mutagenetix > Incidental Mutations

Incidental Mutation 'R2035:Ism1'

224429

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

040042-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R2035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139678178-139758581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139757155 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 349 (S349R)

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099307] [ENSMUST00000184404]

AlphaFold

A2ATD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099307
AA Change: S342R

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

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: S342R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	165	177	N/A	INTRINSIC
TSP1	210	252	3.69e-8	SMART
AMOP	279	442	5.38e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000184404
AA Change: S349R

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

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: S349R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	172	184	N/A	INTRINSIC
TSP1	217	259	3.69e-8	SMART
AMOP	286	449	5.38e-91	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,612,642	*1273Q	probably null	Het
2810474O19Rik	G	A	6: 149,329,226	V1257I	possibly damaging	Het
Aars2	A	G	17: 45,514,801	I348V	possibly damaging	Het
Abca8b	G	A	11: 109,957,106	R788C	possibly damaging	Het
Abhd15	T	C	11: 77,515,710	L171P	probably damaging	Het
Abi3bp	A	T	16: 56,660,218	H686L	probably benign	Het
Acsl1	A	G	8: 46,528,584	Y456C	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Ash1l	T	A	3: 89,066,317	V2561D	probably benign	Het
B3galnt2	T	A	13: 13,966,324	F44I	probably benign	Het
Bicra	A	T	7: 15,996,413	H24Q	possibly damaging	Het
Ccdc163	T	C	4: 116,711,333	S195P	probably damaging	Het
Cd163	A	T	6: 124,320,629	K911N	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Dctn4	T	A	18: 60,538,417	D120E	possibly damaging	Het
Dgcr14	A	G	16: 17,910,086		probably null	Het
Dnali1	C	T	4: 125,059,110	V207M	probably damaging	Het
Dnhd1	A	G	7: 105,704,921	Q3036R	probably damaging	Het
Dst	G	A	1: 34,271,413	R4098H	probably damaging	Het
Eml5	A	T	12: 98,794,266	N1741K	probably benign	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 75,322,998		probably null	Het
Gm4841	T	G	18: 60,269,857	Y388S	probably benign	Het
Grin3a	T	C	4: 49,771,336	T479A	probably damaging	Het
Gucy2e	C	A	11: 69,227,532	V743L	probably benign	Het
Il33	T	A	19: 29,954,637	N143K	probably damaging	Het
Itgb2	T	A	10: 77,547,199	D134E	probably damaging	Het
Kcnk1	A	C	8: 126,025,369	N238T	possibly damaging	Het
Kcnu1	G	T	8: 25,896,693	V535L	probably benign	Het
Muc19	T	A	15: 91,892,405		noncoding transcript	Het
Mycbp2	A	T	14: 103,260,239	Y966N	probably damaging	Het
Myo19	A	T	11: 84,897,608	M349L	probably benign	Het
Narf	G	A	11: 121,238,500	A37T	probably benign	Het
Ncapd2	T	C	6: 125,184,528	N208D	probably benign	Het
Nr1i2	A	G	16: 38,251,126		probably null	Het
Olfr1354	T	C	10: 78,917,587	V249A	possibly damaging	Het
Olfr596	T	A	7: 103,310,256	H178Q	probably damaging	Het
Opn5	A	G	17: 42,607,161	I70T	probably damaging	Het
Pkn2	G	T	3: 142,820,587	P410T	probably damaging	Het
Pla2r1	T	C	2: 60,422,736	N1337S	probably damaging	Het
Prkd3	A	T	17: 78,975,373		probably null	Het
Pum2	T	A	12: 8,728,638	Y429*	probably null	Het
Rttn	T	A	18: 89,020,216	V812E	probably damaging	Het
Rufy2	T	A	10: 63,006,747	L483H	probably damaging	Het
Sdccag3	T	A	2: 26,383,627	S374C	probably damaging	Het
Slc35a3	T	A	3: 116,687,323	Q97L	probably damaging	Het
St18	A	T	1: 6,802,328	M96L	probably benign	Het
Strc	G	A	2: 121,374,934	A905V	probably damaging	Het
Syne3	T	C	12: 104,958,127	M338V	probably benign	Het
Syngr2	A	G	11: 117,813,360	D187G	probably benign	Het
Tas2r109	A	C	6: 132,980,460	I169R	probably benign	Het
Tbc1d22a	T	A	15: 86,391,065		probably null	Het
Thbs1	T	A	2: 118,118,340		probably null	Het
Them6	C	A	15: 74,721,675	D127E	probably damaging	Het
Tmem132d	T	C	5: 127,792,458	D604G	probably damaging	Het
Tnni1	A	G	1: 135,805,592	T51A	probably benign	Het
Topors	T	C	4: 40,262,879	N135S	probably damaging	Het
Unc80	A	T	1: 66,606,593	D1476V	probably damaging	Het
Vmn1r17	A	G	6: 57,360,588	V264A	probably benign	Het
Vmn1r193	T	A	13: 22,219,562	T87S	probably benign	Het
Vmn1r202	C	A	13: 22,501,602	R215L	probably damaging	Het
Vmn2r24	A	T	6: 123,816,060	N782I	probably damaging	Het
Vmn2r53	A	G	7: 12,598,511	F404L	possibly damaging	Het
Xpo4	A	T	14: 57,585,926	C1036S	possibly damaging	Het
Yae1d1	T	C	13: 17,989,721	N104D	probably benign	Het
Zan	C	A	5: 137,443,947	R1901L	unknown	Het
Zbtb9	G	A	17: 26,974,923	R434H	probably damaging	Het
Zdhhc23	A	C	16: 43,973,508	C268G	probably damaging	Het

Other mutations in Ism1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Ism1	APN	2	139757303	missense	probably damaging	1.00
IGL02496:Ism1	APN	2	139757201	missense	probably damaging	1.00
IGL03349:Ism1	APN	2	139731975	nonsense	probably null
R0212:Ism1	UTSW	2	139740257	missense	probably benign	0.00
R0312:Ism1	UTSW	2	139678672	start codon destroyed	probably null	0.88
R1355:Ism1	UTSW	2	139732074	missense	possibly damaging	0.93
R1370:Ism1	UTSW	2	139732074	missense	possibly damaging	0.93
R1775:Ism1	UTSW	2	139746043	missense	probably damaging	1.00
R1992:Ism1	UTSW	2	139746017	missense	probably benign	0.01
R2021:Ism1	UTSW	2	139740127	splice site	probably null
R2270:Ism1	UTSW	2	139757373	missense	probably damaging	1.00
R2271:Ism1	UTSW	2	139757373	missense	probably damaging	1.00
R3722:Ism1	UTSW	2	139732011	nonsense	probably null
R3792:Ism1	UTSW	2	139740253	missense	probably damaging	0.99
R4907:Ism1	UTSW	2	139678752	missense	probably benign	0.27
R5621:Ism1	UTSW	2	139678721	missense	probably damaging	0.99
R5964:Ism1	UTSW	2	139678757	missense	probably benign
R6255:Ism1	UTSW	2	139746042	small deletion	probably benign
R7009:Ism1	UTSW	2	139757279	missense	probably damaging	1.00
R7325:Ism1	UTSW	2	139757043	missense	probably damaging	1.00
R7851:Ism1	UTSW	2	139757265	missense	probably damaging	1.00
R8851:Ism1	UTSW	2	139749545	missense	probably damaging	1.00
R8958:Ism1	UTSW	2	139732075	missense	possibly damaging	0.93
R9365:Ism1	UTSW	2	139740401	missense	probably damaging	1.00
Z1176:Ism1	UTSW	2	139731874	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGACATGGACAGCTGTGAG -3'
(R):5'- AGATAATCCAGGGCAGAACATC -3'

Sequencing Primer
(F):5'- TGAGCGATGGATGAGCTGC -3'
(R):5'- CAGGGCAGAACATCCACTTTGTAG -3'

Posted On

2014-08-25