Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03349:Ism1'

419627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.660) question?

Stock #

IGL03349

Quality Score

Status

Chromosome

Chromosomal Location

139520098-139600501 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 139573895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 82 (R82*)

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

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

AlphaFold

A2ATD1

Predicted Effect

probably null
Transcript: ENSMUST00000099307
AA Change: R75*

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: R75*

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 null
Transcript: ENSMUST00000184404
AA Change: R82*

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: R82*

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,629,455 (GRCm39)	Y3648H	probably benign	Het
Akr1c20	T	A	13: 4,558,249 (GRCm39)	R172*	probably null	Het
Apba1	A	T	19: 23,894,939 (GRCm39)	E458D	probably benign	Het
Atg2a	T	A	19: 6,308,054 (GRCm39)	V1590D	possibly damaging	Het
Atp13a4	A	G	16: 29,275,489 (GRCm39)	S332P	probably benign	Het
Atp8b2	A	T	3: 89,865,124 (GRCm39)	F163I	probably damaging	Het
Azin2	A	T	4: 128,839,907 (GRCm39)	Y228*	probably null	Het
Cd109	C	T	9: 78,543,767 (GRCm39)	H104Y	probably benign	Het
Ces2a	G	T	8: 105,460,712 (GRCm39)	L3F	probably damaging	Het
Crebbp	A	G	16: 3,935,222 (GRCm39)	V889A	possibly damaging	Het
Crim1	A	T	17: 78,662,579 (GRCm39)	K801*	probably null	Het
Cxcr1	T	C	1: 74,231,687 (GRCm39)	T112A	possibly damaging	Het
Cyp1a2	A	G	9: 57,587,158 (GRCm39)	S378P	possibly damaging	Het
Cyp2c67	T	C	19: 39,632,128 (GRCm39)	Y80C	probably damaging	Het
Dennd4a	T	C	9: 64,796,256 (GRCm39)	W761R	probably damaging	Het
Dgki	C	T	6: 37,074,562 (GRCm39)		probably null	Het
Dnase1l3	T	C	14: 7,984,146 (GRCm38)	T89A	probably benign	Het
Dock4	C	A	12: 40,783,309 (GRCm39)	Q748K	probably benign	Het
Elmo3	A	G	8: 106,033,020 (GRCm39)	E68G	possibly damaging	Het
Fer1l4	C	A	2: 155,886,654 (GRCm39)	E692*	probably null	Het
Fkbp9	T	A	6: 56,826,703 (GRCm39)	M101K	probably damaging	Het
Grin1	C	A	2: 25,200,448 (GRCm39)	V225L	probably benign	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Heatr5b	C	A	17: 79,062,749 (GRCm39)	K1933N	probably benign	Het
Hsdl1	A	T	8: 120,292,436 (GRCm39)	S260T	probably benign	Het
Hspg2	T	C	4: 137,287,833 (GRCm39)		probably benign	Het
Ift172	A	T	5: 31,441,474 (GRCm39)	V220E	probably benign	Het
Igkv12-47	C	T	6: 69,727,850 (GRCm39)		noncoding transcript	Het
Lrch3	A	G	16: 32,775,694 (GRCm39)	T187A	probably damaging	Het
Ltbr	T	A	6: 125,289,329 (GRCm39)	D160V	probably damaging	Het
Lypd11	T	A	7: 24,422,261 (GRCm39)	S163C	probably damaging	Het
Mark3	A	T	12: 111,594,684 (GRCm39)	K353I	probably benign	Het
Mrm3	A	T	11: 76,140,772 (GRCm39)	H260L	probably damaging	Het
Nckap1	T	C	2: 80,355,904 (GRCm39)	Q627R	probably benign	Het
Neb	T	A	2: 52,168,964 (GRCm39)	Y1857F	possibly damaging	Het
Ntsr1	A	G	2: 180,142,295 (GRCm39)	T29A	probably benign	Het
Ofcc1	C	T	13: 40,226,228 (GRCm39)	G768D	probably benign	Het
Or5k17	T	C	16: 58,746,323 (GRCm39)	M204V	probably benign	Het
Pde8b	T	C	13: 95,179,551 (GRCm39)		probably benign	Het
Pld4	A	T	12: 112,734,313 (GRCm39)	Q393L	probably benign	Het
Prss23	T	C	7: 89,159,065 (GRCm39)	I335V	probably benign	Het
Prune2	A	G	19: 17,100,710 (GRCm39)	I2071M	probably damaging	Het
Ptprz1	T	A	6: 23,000,331 (GRCm39)	V807E	probably damaging	Het
Rnf20	G	A	4: 49,655,936 (GRCm39)	A961T	probably damaging	Het
Slc25a24	A	G	3: 109,056,865 (GRCm39)	Q126R	possibly damaging	Het
Slc35e1	A	T	8: 73,237,696 (GRCm39)	Y382N	probably damaging	Het
Snrpn	C	T	7: 59,635,613 (GRCm39)	G129D	probably damaging	Het
Spag9	A	T	11: 93,984,335 (GRCm39)	N386I	possibly damaging	Het
Ssna1	T	C	2: 25,161,542 (GRCm39)	N102D	possibly damaging	Het
Tex21	A	T	12: 76,268,365 (GRCm39)	I139N	probably benign	Het
Trgc2	T	A	13: 19,489,346 (GRCm39)	T129S	probably benign	Het
Trim21	T	C	7: 102,212,484 (GRCm39)	T161A	probably benign	Het
Vmn2r82	T	A	10: 79,213,703 (GRCm39)	H96Q	probably benign	Het

Other mutations in Ism1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Ism1	APN	2	139,599,223 (GRCm39)	missense	probably damaging	1.00
IGL02496:Ism1	APN	2	139,599,121 (GRCm39)	missense	probably damaging	1.00
R0212:Ism1	UTSW	2	139,582,177 (GRCm39)	missense	probably benign	0.00
R0312:Ism1	UTSW	2	139,520,592 (GRCm39)	start codon destroyed	probably null	0.88
R1355:Ism1	UTSW	2	139,573,994 (GRCm39)	missense	possibly damaging	0.93
R1370:Ism1	UTSW	2	139,573,994 (GRCm39)	missense	possibly damaging	0.93
R1775:Ism1	UTSW	2	139,587,963 (GRCm39)	missense	probably damaging	1.00
R1992:Ism1	UTSW	2	139,587,937 (GRCm39)	missense	probably benign	0.01
R2021:Ism1	UTSW	2	139,582,047 (GRCm39)	splice site	probably null
R2035:Ism1	UTSW	2	139,599,075 (GRCm39)	missense	probably damaging	1.00
R2270:Ism1	UTSW	2	139,599,293 (GRCm39)	missense	probably damaging	1.00
R2271:Ism1	UTSW	2	139,599,293 (GRCm39)	missense	probably damaging	1.00
R3722:Ism1	UTSW	2	139,573,931 (GRCm39)	nonsense	probably null
R3792:Ism1	UTSW	2	139,582,173 (GRCm39)	missense	probably damaging	0.99
R4907:Ism1	UTSW	2	139,520,672 (GRCm39)	missense	probably benign	0.27
R5621:Ism1	UTSW	2	139,520,641 (GRCm39)	missense	probably damaging	0.99
R5964:Ism1	UTSW	2	139,520,677 (GRCm39)	missense	probably benign
R6255:Ism1	UTSW	2	139,587,962 (GRCm39)	small deletion	probably benign
R7009:Ism1	UTSW	2	139,599,199 (GRCm39)	missense	probably damaging	1.00
R7325:Ism1	UTSW	2	139,598,963 (GRCm39)	missense	probably damaging	1.00
R7851:Ism1	UTSW	2	139,599,185 (GRCm39)	missense	probably damaging	1.00
R8851:Ism1	UTSW	2	139,591,465 (GRCm39)	missense	probably damaging	1.00
R8958:Ism1	UTSW	2	139,573,995 (GRCm39)	missense	possibly damaging	0.93
R9365:Ism1	UTSW	2	139,582,321 (GRCm39)	missense	probably damaging	1.00
Z1176:Ism1	UTSW	2	139,573,794 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02