Mutagenetix > Incidental Mutations

Incidental Mutation 'R4907:Ism1'

379087

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

042509-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R4907 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

139678178-139758581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139678752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 28 (G28V)

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

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

AlphaFold

A2ATD1

Predicted Effect

probably benign
Transcript: ENSMUST00000099307
AA Change: G28V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: G28V

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 benign
Transcript: ENSMUST00000184404
AA Change: G28V

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: G28V

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

0.0751

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,383,191	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 60,016,108	E161G	probably benign	Het
Abcc5	A	G	16: 20,376,546	S734P	possibly damaging	Het
Actn1	T	G	12: 80,181,414	H394P	probably damaging	Het
Adam8	A	T	7: 139,989,373	D144E	probably benign	Het
Ankrd50	T	A	3: 38,454,973	K1082*	probably null	Het
Ankrd50	A	T	3: 38,456,675	N514K	probably damaging	Het
Atp4a	A	G	7: 30,719,092	I602V	possibly damaging	Het
Baz2a	A	G	10: 128,110,808	T64A	probably damaging	Het
Btbd19	A	G	4: 117,120,567		probably benign	Het
Casz1	T	A	4: 148,944,541	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,136,141	D103E	probably benign	Het
Cd209d	T	C	8: 3,877,948	N52S	probably benign	Het
Cdh7	T	A	1: 110,138,323	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,249,140	V101A	probably damaging	Het
Cldn22	T	C	8: 47,824,707	V60A	probably benign	Het
Clec10a	G	A	11: 70,169,971	G183D	probably benign	Het
Cnga3	T	C	1: 37,241,942		probably null	Het
Cts3	A	T	13: 61,566,820	F224I	probably benign	Het
Fbxo40	A	G	16: 36,969,702	Y349H	probably benign	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Gm10029	A	T	13: 6,662,556		noncoding transcript	Het
Gm14399	T	A	2: 175,131,389		probably benign	Het
Gm9932	T	C	5: 100,199,155		noncoding transcript	Het
Immp1l	A	G	2: 105,937,117	Y107C	probably damaging	Het
Klf1	C	A	8: 84,903,185	S213*	probably null	Het
Krt12	T	C	11: 99,418,362	E329G	probably damaging	Het
Lama2	A	T	10: 27,164,946	N1460K	probably benign	Het
Llgl2	T	A	11: 115,853,974	Y932*	probably null	Het
Lrrc7	T	C	3: 158,161,240	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,005,904	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,493,441	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,834,743		noncoding transcript	Het
Mical3	T	A	6: 121,007,298	M206L	probably benign	Het
Mndal	T	G	1: 173,862,690	N358T	probably damaging	Het
Nckap5	A	G	1: 126,026,152	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,596,620		probably benign	Het
Nfatc3	C	A	8: 106,079,727	H401Q	probably damaging	Het
Npas2	T	C	1: 39,361,985	V810A	unknown	Het
Nt5c2	A	G	19: 46,896,539	V245A	possibly damaging	Het
Olfr1463	A	G	19: 13,234,793	D181G	probably damaging	Het
Olfr350	A	T	2: 36,850,258	I71F	probably benign	Het
Olfr615	A	G	7: 103,561,034	M186V	possibly damaging	Het
Olfr651	A	G	7: 104,553,311	R131G	probably damaging	Het
Olfr984	A	T	9: 40,100,659	M277K	probably benign	Het
Otof	A	T	5: 30,378,661		probably null	Het
Pck1	C	T	2: 173,157,023	T358I	probably damaging	Het
Pclo	T	C	5: 14,680,051		probably benign	Het
Pgm1	T	A	5: 64,103,878	F238L	probably benign	Het
Pgr	G	A	9: 8,947,043		probably benign	Het
Pkd1l3	T	A	8: 109,640,843	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,154,142	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,209,226	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,479,403		probably null	Het
Rgs22	T	A	15: 36,087,424	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,584,192	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,346,162	L393P	probably damaging	Het
Snw1	T	C	12: 87,459,489	I214V	probably benign	Het
Sorbs1	G	A	19: 40,340,047	Q595*	probably null	Het
Spata21	T	A	4: 141,097,121		probably null	Het
Ss18l1	G	T	2: 180,063,399		probably null	Het
Tmem163	A	T	1: 127,519,370	L176H	probably damaging	Het
Tpd52	T	C	3: 8,944,608		probably null	Het
Tpsab1	T	A	17: 25,343,462	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,674,374	T450A	probably benign	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Txndc11	A	T	16: 11,088,534	H377Q	probably benign	Het
Usp17la	A	G	7: 104,861,148	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,550,086	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,616,223		probably null	Het
Wdr33	T	C	18: 31,906,993	*1331Q	probably null	Het
Wdr34	A	G	2: 30,032,460		probably null	Het
Wdr90	T	A	17: 25,860,650		probably benign	Het
Xpo7	T	C	14: 70,670,629	M903V	probably benign	Het
Zfhx3	T	A	8: 108,793,354	S369R	probably damaging	Het
Zfp808	T	C	13: 62,171,473	F172S	possibly damaging	Het
Zfp821	A	G	8: 109,723,993	E55G	probably benign	Het
Zfp964	T	C	8: 69,663,322	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,574,872	T250A	probably damaging	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
R5621:Ism1	UTSW	2	139678721	missense	probably damaging	0.99
R5964:Ism1	UTSW	2	139678757	missense	probably benign
R6255:Ism1	UTSW	2	139746042	small deletion	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'- GACAGCTCCTGGGATTGCTC -3'
(R):5'- AAGTGCTCCTTGGTGGAAC -3'

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

Posted On

2016-04-15