Mutagenetix > Incidental Mutation

Incidental Mutation 'R5621:Ism1'

441553

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

043279-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R5621 (G1)

Quality Score

103

Status

Validated

Chromosome

Chromosomal Location

139678178-139758581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139678721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 18 (T18A)

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: T18A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: T18A

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

noncoding transcript
Transcript: ENSMUST00000134801

Predicted Effect

probably damaging
Transcript: ENSMUST00000184404
AA Change: T18A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: T18A

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

0.2124

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	G	17: 84,695,993 (GRCm38)	L417R	probably damaging	Het
Als2	A	G	1: 59,191,890 (GRCm38)	V854A	probably benign	Het
Bbox1	C	T	2: 110,292,523 (GRCm38)	W140*	probably null	Het
Ccdc28a	A	T	10: 18,216,268 (GRCm38)	N110K	probably benign	Het
Chrna6	C	T	8: 27,407,040 (GRCm38)	E270K	probably damaging	Het
Cilp	A	G	9: 65,278,791 (GRCm38)	K723E	possibly damaging	Het
Ciz1	C	A	2: 32,371,741 (GRCm38)	A455E	probably damaging	Het
Csmd3	T	G	15: 48,313,978 (GRCm38)	H388P	possibly damaging	Het
Dnajc8	A	G	4: 132,553,252 (GRCm38)		probably benign	Het
Dnase1	G	T	16: 4,039,118 (GRCm38)	C164F	probably benign	Het
Dync2h1	A	T	9: 7,120,909 (GRCm38)	I2126K	possibly damaging	Het
Epha4	G	T	1: 77,515,049 (GRCm38)		probably benign	Het
Fer1l6	T	C	15: 58,558,326 (GRCm38)	C201R	probably damaging	Het
Fgf8	T	C	19: 45,742,382 (GRCm38)	Y68C	probably benign	Het
Gabrb1	A	T	5: 72,108,728 (GRCm38)	I243F	probably damaging	Het
Gm13762	T	C	2: 88,973,466 (GRCm38)	I142V	probably benign	Het
Gm9774	G	A	3: 92,428,357 (GRCm38)	A346V	probably damaging	Het
Gpam	A	C	19: 55,079,260 (GRCm38)	S484A	probably damaging	Het
Hectd2	T	A	19: 36,618,751 (GRCm38)	N745K	probably damaging	Het
Hspa13	T	C	16: 75,766,763 (GRCm38)		probably benign	Het
Ints2	A	G	11: 86,242,947 (GRCm38)	F426L	probably benign	Het
Itih2	T	A	2: 10,102,805 (GRCm38)	Q650L	probably benign	Het
Jmjd4	T	C	11: 59,450,393 (GRCm38)	F50S	probably damaging	Het
Kif5b	T	C	18: 6,226,883 (GRCm38)	N125S	probably benign	Het
Lonp1	G	C	17: 56,620,263 (GRCm38)	A330G	probably benign	Het
Lrfn1	A	G	7: 28,466,836 (GRCm38)	I552V	probably damaging	Het
Mcph1	A	G	8: 18,632,170 (GRCm38)	E441G	probably damaging	Het
Mdn1	T	A	4: 32,716,371 (GRCm38)	H2144Q	possibly damaging	Het
Mms19	A	G	19: 41,966,313 (GRCm38)	S56P	probably benign	Het
Mrgprb3	A	G	7: 48,643,368 (GRCm38)	I145T	probably benign	Het
Myh11	G	A	16: 14,244,855 (GRCm38)	T287I	probably damaging	Het
Npas2	A	G	1: 39,359,713 (GRCm38)	T730A	probably benign	Het
Olfr1229	G	A	2: 89,282,353 (GRCm38)	P281L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,169 (GRCm38)	E571G	possibly damaging	Het
Pcx	T	A	19: 4,619,167 (GRCm38)	V731E	possibly damaging	Het
Pgm1	T	A	5: 64,112,038 (GRCm38)	Y489*	probably null	Het
Rrp12	T	C	19: 41,880,417 (GRCm38)	T541A	probably benign	Het
Ryr3	C	T	2: 112,900,984 (GRCm38)	W660*	probably null	Het
Sertad2	T	A	11: 20,648,061 (GRCm38)	F86I	possibly damaging	Het
Slc11a1	G	A	1: 74,380,906 (GRCm38)	G191D	probably damaging	Het
Slc22a22	G	T	15: 57,259,151 (GRCm38)	F143L	probably benign	Het
Slc22a28	C	T	19: 8,071,011 (GRCm38)	V424I	probably benign	Het
Slc7a11	T	G	3: 50,438,875 (GRCm38)	K106N	probably damaging	Het
Smgc	A	T	15: 91,844,420 (GRCm38)	D121V	probably damaging	Het
Sphk1	C	T	11: 116,536,366 (GRCm38)		probably benign	Het
Spock3	A	T	8: 63,144,006 (GRCm38)	T118S	probably benign	Het
Stk17b	G	T	1: 53,771,784 (GRCm38)	S54*	probably null	Het
Sycp2	A	G	2: 178,381,918 (GRCm38)	I435T	probably benign	Het
Tm2d3	G	T	7: 65,701,618 (GRCm38)	D207Y	probably damaging	Het
Top2b	A	T	14: 16,387,280 (GRCm38)	N123Y	probably damaging	Het
Unc80	A	G	1: 66,638,043 (GRCm38)	T2044A	possibly damaging	Het
Usp6nl	A	G	2: 6,440,432 (GRCm38)	S407G	probably benign	Het
Vmn1r195	G	A	13: 22,278,389 (GRCm38)	V10I	probably benign	Het
Zfp292	C	T	4: 34,811,703 (GRCm38)	R447H	probably damaging	Het

Other mutations in Ism1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Ism1	APN	2	139,757,303 (GRCm38)	missense	probably damaging	1.00
IGL02496:Ism1	APN	2	139,757,201 (GRCm38)	missense	probably damaging	1.00
IGL03349:Ism1	APN	2	139,731,975 (GRCm38)	nonsense	probably null
R0212:Ism1	UTSW	2	139,740,257 (GRCm38)	missense	probably benign	0.00
R0312:Ism1	UTSW	2	139,678,672 (GRCm38)	start codon destroyed	probably null	0.88
R1355:Ism1	UTSW	2	139,732,074 (GRCm38)	missense	possibly damaging	0.93
R1370:Ism1	UTSW	2	139,732,074 (GRCm38)	missense	possibly damaging	0.93
R1775:Ism1	UTSW	2	139,746,043 (GRCm38)	missense	probably damaging	1.00
R1992:Ism1	UTSW	2	139,746,017 (GRCm38)	missense	probably benign	0.01
R2021:Ism1	UTSW	2	139,740,127 (GRCm38)	splice site	probably null
R2035:Ism1	UTSW	2	139,757,155 (GRCm38)	missense	probably damaging	1.00
R2270:Ism1	UTSW	2	139,757,373 (GRCm38)	missense	probably damaging	1.00
R2271:Ism1	UTSW	2	139,757,373 (GRCm38)	missense	probably damaging	1.00
R3722:Ism1	UTSW	2	139,732,011 (GRCm38)	nonsense	probably null
R3792:Ism1	UTSW	2	139,740,253 (GRCm38)	missense	probably damaging	0.99
R4907:Ism1	UTSW	2	139,678,752 (GRCm38)	missense	probably benign	0.27
R5964:Ism1	UTSW	2	139,678,757 (GRCm38)	missense	probably benign
R6255:Ism1	UTSW	2	139,746,042 (GRCm38)	small deletion	probably benign
R7009:Ism1	UTSW	2	139,757,279 (GRCm38)	missense	probably damaging	1.00
R7325:Ism1	UTSW	2	139,757,043 (GRCm38)	missense	probably damaging	1.00
R7851:Ism1	UTSW	2	139,757,265 (GRCm38)	missense	probably damaging	1.00
R8851:Ism1	UTSW	2	139,749,545 (GRCm38)	missense	probably damaging	1.00
R8958:Ism1	UTSW	2	139,732,075 (GRCm38)	missense	possibly damaging	0.93
R9365:Ism1	UTSW	2	139,740,401 (GRCm38)	missense	probably damaging	1.00
Z1176:Ism1	UTSW	2	139,731,874 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGCTCCTGGGATTGCTCC -3'
(R):5'- CAATGTACCAAGCTCTCTTGC -3'

Sequencing Primer
(F):5'- TGGGATTGCTCCGCCAC -3'
(R):5'- CTTAGTACCTTGCGGGCCAC -3'

Posted On

2016-11-08