Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01472:Ism1'

88323

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

IGL01472

Quality Score

Status

Chromosome

Chromosomal Location

139678178-139758581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139757303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 392 (T392S)

Ref Sequence

ENSEMBL: ENSMUSP00000096910 (fasta)

Gene Model

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

AlphaFold

A2ATD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099307
AA Change: T392S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: T392S

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: T399S

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

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: T399S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	G	A	7: 119,554,536		probably null	Het
Adamts4	T	C	1: 171,252,850	F324S	probably damaging	Het
Alg10b	T	A	15: 90,227,697	L248Q	possibly damaging	Het
Antxr2	T	A	5: 98,027,499	T90S	probably benign	Het
Arhgap21	C	T	2: 20,849,581	E1657K	probably damaging	Het
Atp13a5	T	G	16: 29,275,423	D803A	probably damaging	Het
Bzw2	T	C	12: 36,109,796	D185G	probably damaging	Het
Camta2	A	G	11: 70,684,124	S62P	probably damaging	Het
Cep85	T	C	4: 134,134,166	Q599R	possibly damaging	Het
Chsy3	G	A	18: 59,176,367	V231I	probably damaging	Het
Cnbd2	C	T	2: 156,375,348	R457W	probably damaging	Het
Col20a1	A	G	2: 181,007,832	T1036A	probably benign	Het
Colgalt2	T	C	1: 152,506,878	Y494H	probably damaging	Het
Cox15	G	T	19: 43,743,665	Y237*	probably null	Het
Cpne9	C	A	6: 113,293,022	S281Y	possibly damaging	Het
D830013O20Rik	G	A	12: 73,364,316		noncoding transcript	Het
Dnah5	C	T	15: 28,331,726	R2153C	probably damaging	Het
Fam228a	A	G	12: 4,715,610	I267T	possibly damaging	Het
Fat4	G	A	3: 38,888,070	A371T	probably damaging	Het
Gm1818	T	C	12: 48,556,289		noncoding transcript	Het
Gm5592	T	C	7: 41,286,074		probably benign	Het
Golga4	C	A	9: 118,532,574	L207I	probably damaging	Het
Gtf3c1	A	G	7: 125,651,054		probably benign	Het
Hao1	C	T	2: 134,554,230	E35K	probably benign	Het
Iqch	T	C	9: 63,547,934	I194V	probably benign	Het
Lcmt1	A	G	7: 123,428,153	Y313C	probably damaging	Het
Loxl4	A	G	19: 42,597,549	C718R	probably damaging	Het
Lyar	T	G	5: 38,224,722	I16R	possibly damaging	Het
Map3k20	T	C	2: 72,355,553		probably benign	Het
Mtus1	T	C	8: 41,002,412	T941A	probably benign	Het
Myh8	A	G	11: 67,288,379		probably benign	Het
Myof	T	C	19: 37,923,076	D1482G	probably benign	Het
Nr4a3	C	A	4: 48,071,133	A534D	probably damaging	Het
Oas1c	A	G	5: 120,802,921	V269A	probably damaging	Het
Odf2	T	A	2: 29,893,059	S5T	probably damaging	Het
Olfr1163	T	A	2: 88,070,978	T135S	possibly damaging	Het
Olfr1412	T	A	1: 92,588,972	M214K	possibly damaging	Het
Olfr481	T	C	7: 108,081,204	S137P	probably benign	Het
Pbk	A	G	14: 65,816,710	T235A	probably benign	Het
Phrf1	T	C	7: 141,256,490		probably benign	Het
Prkci	A	G	3: 31,050,192	D568G	probably damaging	Het
Prom2	T	A	2: 127,532,882	Y578F	probably benign	Het
Prph	T	C	15: 99,058,593		probably benign	Het
Ryr3	A	G	2: 112,672,248	V3527A	probably benign	Het
Scn10a	C	T	9: 119,617,763	V1400I	probably damaging	Het
Slc10a2	A	G	8: 5,091,652	L244P	probably damaging	Het
Tardbp	A	G	4: 148,622,064	V96A	probably benign	Het
Tbc1d4	C	A	14: 101,489,864	E504*	probably null	Het
Tmed3	T	C	9: 89,702,875	E109G	probably benign	Het
Tnc	C	T	4: 64,006,419	R1014H	probably benign	Het
Tpcn2	C	T	7: 145,267,378	R313Q	probably damaging	Het
Trim45	A	G	3: 100,928,065	T455A	probably benign	Het
Txlna	A	G	4: 129,632,115	I313T	probably damaging	Het
Vmn1r202	A	T	13: 22,501,989	I86K	possibly damaging	Het
Vmn2r14	C	A	5: 109,216,314	E579*	probably null	Het
Wrn	T	A	8: 33,329,172	I8F	possibly damaging	Het
Zc3h18	A	G	8: 122,416,657		probably benign	Het
Zfyve26	A	T	12: 79,276,343	H876Q	probably benign	Het
Znrf2	C	T	6: 54,863,972	T177I	probably damaging	Het

Other mutations in Ism1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2035:Ism1	UTSW	2	139757155	missense	probably damaging	1.00
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

Posted On

2013-11-18