Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Ism1'

156262

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

039420-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139520098-139600501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139573994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 115 (I115F)

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

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

AlphaFold

A2ATD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099307
AA Change: I108F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: I108F

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

possibly damaging
Transcript: ENSMUST00000184404
AA Change: I115F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: I115F

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

Meta Mutation Damage Score

0.3416

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
B4galnt4	T	C	7: 140,645,308 (GRCm39)	V259A	probably damaging	Het
Ccdc141	A	T	2: 76,860,945 (GRCm39)	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,526,240 (GRCm39)	D224E	probably damaging	Het
Ccne1	A	G	7: 37,805,747 (GRCm39)	I43T	possibly damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cebpz	G	T	17: 79,242,753 (GRCm39)	D300E	probably benign	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dpy19l4	C	T	4: 11,303,371 (GRCm39)	W183*	probably null	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Erc1	A	T	6: 119,720,381 (GRCm39)	L440*	probably null	Het
Frem3	A	G	8: 81,417,331 (GRCm39)	Y2012C	probably damaging	Het
Garin5a	A	G	7: 44,146,115 (GRCm39)	K2E	possibly damaging	Het
Gm10288	A	T	3: 146,544,748 (GRCm39)		noncoding transcript	Het
Gm1110	T	A	9: 26,795,057 (GRCm39)	K476N	probably benign	Het
Gm11937	A	T	11: 99,500,733 (GRCm39)	S95T	possibly damaging	Het
H2bc13	T	A	13: 21,900,027 (GRCm39)	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,142,657 (GRCm39)	H197Q	probably damaging	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mtcl3	A	T	10: 29,023,318 (GRCm39)	T222S	probably benign	Het
Nlrp2	G	T	7: 5,330,490 (GRCm39)	N635K	possibly damaging	Het
Or4c3d	G	A	2: 89,881,957 (GRCm39)	T237I	probably benign	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Or5b112	T	A	19: 13,319,882 (GRCm39)	Y253*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Plxna1	A	G	6: 89,297,748 (GRCm39)		probably benign	Het
Ppp4r1	A	T	17: 66,147,982 (GRCm39)	E924D	probably benign	Het
Prdm2	C	T	4: 142,858,533 (GRCm39)	V1586I	probably benign	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rgs16	A	T	1: 153,619,414 (GRCm39)	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,683,507 (GRCm39)	M1T	probably null	Het
Setdb2	T	A	14: 59,654,890 (GRCm39)	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,057,124 (GRCm39)	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,107,170 (GRCm39)		probably benign	Het
Slc44a3	C	A	3: 121,325,320 (GRCm39)	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818 (GRCm39)	G103D	probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114 (GRCm39)	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,215,169 (GRCm39)	T213K	probably damaging	Het
Usp38	T	C	8: 81,711,662 (GRCm39)	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,600 (GRCm39)	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,383,334 (GRCm39)	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,407,018 (GRCm39)		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
IGL03349:Ism1	APN	2	139,573,895 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTTCCTCTGTCCAAAGAAGCC -3'
(R):5'- GCTGCAATTTCAGGGTGCGTTAC -3'

Sequencing Primer
(F):5'- GTCCAAAGAAGCCCCGGAG -3'
(R):5'- CTCAGTGTCTCAAAAATAATGGTGG -3'

Posted On

2014-02-11