Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Ism1'

258946

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.660) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139520098-139600501 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 139573931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 94 (R94*)

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: R87*

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: R87*

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: R94*

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: R94*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	probably damaging	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
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
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'- TGTTAAGAGTGGCACTTTTATCCAC -3'
(R):5'- GCAGGATCACAGTATGGTTGAG -3'

Sequencing Primer
(F):5'- GAGTGGCACTTTTATCCACTTAAG -3'
(R):5'- TCACAGTATGGTTGAGAAAGACGC -3'

Posted On

2015-01-23