Mutagenetix > Incidental Mutation

Incidental Mutation 'R8851:Ism1'

674985

Institutional Source

Beutler Lab

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 #

R8851 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139520098-139600501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139591465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 273 (S273I)

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: S266I

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

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: S266I

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: S273I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: S273I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,683 (GRCm39)	I279F	probably benign	Het
Adamts7	A	G	9: 90,075,163 (GRCm39)	N965S	probably benign	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankar	T	C	1: 72,691,535 (GRCm39)	Y1142C	probably damaging	Het
Apoa4	A	G	9: 46,153,906 (GRCm39)	K169R	probably benign	Het
Cd22	T	A	7: 30,577,084 (GRCm39)	K74N	probably benign	Het
Defa39	T	A	8: 22,193,555 (GRCm39)	I22F	possibly damaging	Het
Dgcr2	G	A	16: 17,690,507 (GRCm39)	T41I	possibly damaging	Het
Dicer1	A	G	12: 104,690,300 (GRCm39)	V245A	possibly damaging	Het
Dop1b	T	A	16: 93,559,398 (GRCm39)	S715T	probably benign	Het
Epb41l1	A	T	2: 156,364,431 (GRCm39)	H980L	probably benign	Het
Erc2	A	T	14: 28,039,216 (GRCm39)	E973V	probably null	Het
Fam124b	T	A	1: 80,190,882 (GRCm39)	Q167L	probably damaging	Het
Frmpd2	A	G	14: 33,217,643 (GRCm39)	E46G	probably damaging	Het
Gabrb2	G	A	11: 42,312,186 (GRCm39)	V4I	probably benign	Het
Gbf1	T	A	19: 46,256,922 (GRCm39)	N841K	probably damaging	Het
Gnpat	A	G	8: 125,601,004 (GRCm39)	H161R	probably damaging	Het
Gpd2	A	T	2: 57,197,062 (GRCm39)	M206L	possibly damaging	Het
Grid2ip	T	C	5: 143,348,352 (GRCm39)	F148L	possibly damaging	Het
Hemk1	A	G	9: 107,213,412 (GRCm39)	V128A	probably benign	Het
Kcnab3	G	T	11: 69,218,990 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,291,993 (GRCm39)	Y1430H	unknown	Het
Lama2	A	G	10: 27,242,119 (GRCm39)	V279A	possibly damaging	Het
Lmf1	G	A	17: 25,804,680 (GRCm39)	W119*	probably null	Het
Lrrc42	A	G	4: 107,096,375 (GRCm39)	V276A	probably benign	Het
Magi2	T	C	5: 20,270,618 (GRCm39)	F163L	probably damaging	Het
Map2k2	A	G	10: 80,955,097 (GRCm39)	K196R	probably damaging	Het
Mfsd11	C	A	11: 116,752,479 (GRCm39)	D209E	probably benign	Het
Muc1	C	A	3: 89,138,425 (GRCm39)	F422L	probably benign	Het
Muc13	A	G	16: 33,631,273 (GRCm39)	H391R	probably benign	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Nfatc2ip	T	C	7: 125,986,617 (GRCm39)	Q346R	probably damaging	Het
Or8g2b	A	G	9: 39,751,600 (GRCm39)	Y290C	probably damaging	Het
Otol1	T	A	3: 69,935,299 (GRCm39)	D430E	probably damaging	Het
Pcdh1	T	C	18: 38,325,155 (GRCm39)	E929G	probably damaging	Het
Pip4p2	T	C	4: 14,912,491 (GRCm39)	M200T	possibly damaging	Het
Plekhf1	C	T	7: 37,921,466 (GRCm39)	R34H	probably damaging	Het
Plekhm2	A	T	4: 141,358,639 (GRCm39)	V622E	probably benign	Het
Pomt2	G	A	12: 87,184,838 (GRCm39)	T196I	probably damaging	Het
Ppp1r12c	C	T	7: 4,487,703 (GRCm39)	G436D	probably damaging	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,900,402 (GRCm39)	I176T	probably damaging	Het
Slc5a9	A	T	4: 111,755,790 (GRCm39)	V36E	probably damaging	Het
Slc7a1	A	C	5: 148,285,093 (GRCm39)	S133R	probably damaging	Het
Sox17	A	G	1: 4,562,073 (GRCm39)	Y376H	probably benign	Het
Spata4	T	C	8: 55,062,935 (GRCm39)	I280T	probably benign	Het
Svop	T	A	5: 114,192,557 (GRCm39)	I187F	probably damaging	Het
Tas2r103	T	A	6: 133,013,896 (GRCm39)	I57F		Het
Tead3	A	G	17: 28,551,704 (GRCm39)	V463A	probably damaging	Het
Tenm4	G	C	7: 96,501,710 (GRCm39)	G1305R	probably damaging	Het
Top2a	A	T	11: 98,900,677 (GRCm39)	F594L	probably damaging	Het
Trim23	A	G	13: 104,334,573 (GRCm39)	T419A	possibly damaging	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Ttyh2	A	G	11: 114,593,090 (GRCm39)	I254V	probably benign	Het
Vmn2r58	T	C	7: 41,487,219 (GRCm39)	M559V	probably benign	Het
Wwp1	A	T	4: 19,643,437 (GRCm39)	H358Q	probably null	Het
Zcwpw1	A	C	5: 137,820,626 (GRCm39)	D597A	probably damaging	Het
Zfp318	A	T	17: 46,710,761 (GRCm39)	Y828F	probably damaging	Het
Zfp608	T	A	18: 55,032,194 (GRCm39)	N582I	possibly 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
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
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'- TGGCAAGTTTCTACCCGAGAG -3'
(R):5'- TCCCACAGACGTGTCCTATG -3'

Sequencing Primer
(F):5'- AGGAGTAATGAAGACAAGAAGGC -3'
(R):5'- GACGTGTCCTATGTCTCAGTCTAG -3'

Posted On

2021-07-15