Mutagenetix > Incidental Mutations

Incidental Mutation 'R6255:Ism1'

506038

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

044372-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R6255 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

139678178-139758581 bp(+) (GRCm38)

Type of Mutation

small deletion (8 aa in frame mutation)

DNA Base Change (assembly)

AACGGACCCGTTCTTGTGGCTATGCA to AA at 139746042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

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

AlphaFold

A2ATD1

Predicted Effect

probably benign
Transcript: ENSMUST00000099307

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766

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 benign
Transcript: ENSMUST00000184404

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Ppfibp2	T	C	7: 107,681,762	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Ism1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Ism1	APN	2	139757303	missense	probably damaging	1.00
IGL02496:Ism1	APN	2	139757201	missense	probably damaging	1.00
IGL03349:Ism1	APN	2	139731975	nonsense	probably null
R0212:Ism1	UTSW	2	139740257	missense	probably benign	0.00
R0312:Ism1	UTSW	2	139678672	start codon destroyed	probably null	0.88
R1355:Ism1	UTSW	2	139732074	missense	possibly damaging	0.93
R1370:Ism1	UTSW	2	139732074	missense	possibly damaging	0.93
R1775:Ism1	UTSW	2	139746043	missense	probably damaging	1.00
R1992:Ism1	UTSW	2	139746017	missense	probably benign	0.01
R2021:Ism1	UTSW	2	139740127	splice site	probably null
R2035:Ism1	UTSW	2	139757155	missense	probably damaging	1.00
R2270:Ism1	UTSW	2	139757373	missense	probably damaging	1.00
R2271:Ism1	UTSW	2	139757373	missense	probably damaging	1.00
R3722:Ism1	UTSW	2	139732011	nonsense	probably null
R3792:Ism1	UTSW	2	139740253	missense	probably damaging	0.99
R4907:Ism1	UTSW	2	139678752	missense	probably benign	0.27
R5621:Ism1	UTSW	2	139678721	missense	probably damaging	0.99
R5964:Ism1	UTSW	2	139678757	missense	probably benign
R7009:Ism1	UTSW	2	139757279	missense	probably damaging	1.00
R7325:Ism1	UTSW	2	139757043	missense	probably damaging	1.00
R7851:Ism1	UTSW	2	139757265	missense	probably damaging	1.00
R8851:Ism1	UTSW	2	139749545	missense	probably damaging	1.00
R8958:Ism1	UTSW	2	139732075	missense	possibly damaging	0.93
R9365:Ism1	UTSW	2	139740401	missense	probably damaging	1.00
Z1176:Ism1	UTSW	2	139731874	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAGCTGTGAACCTTTGAG -3'
(R):5'- CGAGGAAATGGTTATCTTGTAAGC -3'

Sequencing Primer
(F):5'- TGTACTCAGTCCCCTCGAGAG -3'
(R):5'- TGGTTATCTTGTAAGCAATTTCTCC -3'

Posted On

2018-02-28