Mutagenetix > Incidental Mutation

Incidental Mutation 'R1370:Ism1'

155921

Institutional Source

Beutler Lab

Gene Symbol

Ism1

Ensembl Gene

ENSMUSG00000074766

Gene Name

isthmin 1, angiogenesis inhibitor

Synonyms

5430433G21Rik

MMRRC Submission

039434-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.660) question?

Stock #

R1370 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139520098-139600501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139573994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 115 (I115F)

Ref Sequence

ENSEMBL: ENSMUSP00000139280 (fasta)

Gene Model

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

AlphaFold

A2ATD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099307
AA Change: I108F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096910
Gene: ENSMUSG00000074766
AA Change: I108F

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

possibly damaging
Transcript: ENSMUST00000184404
AA Change: I115F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139280
Gene: ENSMUSG00000074766
AA Change: I115F

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

0.3416

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Adgra3	T	C	5: 50,118,129 (GRCm39)	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,717,798 (GRCm39)		probably null	Het
Afap1	A	G	5: 36,092,944 (GRCm39)	D16G	unknown	Het
AI593442	T	C	9: 52,589,308 (GRCm39)	K90E	probably damaging	Het
Aicda	A	T	6: 122,538,144 (GRCm39)	N101Y	probably benign	Het
Alx1	A	G	10: 102,864,353 (GRCm39)	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
Bin1	A	G	18: 32,562,756 (GRCm39)	I416V	probably benign	Het
Bptf	A	T	11: 106,937,920 (GRCm39)	S2724T	probably damaging	Het
Brf1	A	T	12: 112,924,728 (GRCm39)		probably null	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cdan1	A	G	2: 120,549,620 (GRCm39)		probably null	Het
Chaf1a	A	T	17: 56,371,032 (GRCm39)	H639L	probably benign	Het
Chd1	G	A	17: 17,607,742 (GRCm39)	G430D	probably benign	Het
Ciao3	A	G	17: 25,995,962 (GRCm39)	E62G	probably benign	Het
Clca3a2	T	C	3: 144,519,624 (GRCm39)		probably benign	Het
Clptm1	A	G	7: 19,367,797 (GRCm39)	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,521,451 (GRCm39)	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dennd4c	T	A	4: 86,729,747 (GRCm39)	I783N	probably damaging	Het
Dock10	A	G	1: 80,518,060 (GRCm39)	S1305P	probably damaging	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Gbp8	C	T	5: 105,164,442 (GRCm39)	A394T	possibly damaging	Het
H1f10	A	G	6: 87,958,133 (GRCm39)	I69T	probably damaging	Het
Herc2	T	A	7: 55,818,621 (GRCm39)	C2771S	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Klk1b11	A	G	7: 43,426,331 (GRCm39)	I22V	probably benign	Het
Krt6b	T	C	15: 101,585,987 (GRCm39)	D362G	probably damaging	Het
Lce1e	A	G	3: 92,615,150 (GRCm39)	S66P	unknown	Het
Letm1	A	T	5: 33,936,026 (GRCm39)		probably null	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mrpl12	A	G	11: 120,376,127 (GRCm39)	S46G	probably benign	Het
Ndrg3	T	C	2: 156,780,570 (GRCm39)	E198G	probably damaging	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,705,737 (GRCm39)	I521T	probably benign	Het
Pdzph1	T	C	17: 59,281,082 (GRCm39)	D400G	possibly damaging	Het
Per2	A	T	1: 91,373,279 (GRCm39)	S170T	possibly damaging	Het
Pramel25	T	A	4: 143,521,874 (GRCm39)	L497I	possibly damaging	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rerg	A	T	6: 137,034,799 (GRCm39)		probably benign	Het
Sel1l3	G	T	5: 53,357,559 (GRCm39)	H144Q	possibly damaging	Het
Septin2	G	T	1: 93,426,828 (GRCm39)	V146L	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Sh3bp4	A	T	1: 89,071,494 (GRCm39)	Y114F	probably benign	Het
Slc44a5	C	A	3: 153,948,796 (GRCm39)	T188K	probably benign	Het
Slco6d1	A	C	1: 98,350,819 (GRCm39)	I100L	probably benign	Het
Slfn4	G	T	11: 83,079,632 (GRCm39)	D441Y	probably damaging	Het
Smg1	T	C	7: 117,758,975 (GRCm39)		probably benign	Het
Snrpb2	A	G	2: 142,907,086 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Stard9	T	C	2: 120,527,958 (GRCm39)	V1405A	probably benign	Het
Syt1	A	G	10: 108,526,783 (GRCm39)	L42P	probably damaging	Het
Tarbp1	T	C	8: 127,175,069 (GRCm39)	D789G	probably benign	Het
Tbcel	A	T	9: 42,361,358 (GRCm39)	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,695,490 (GRCm39)		probably benign	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,675,104 (GRCm39)		probably benign	Het
Tsga10	G	T	1: 37,874,534 (GRCm39)	T117K	probably damaging	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Ttn	G	T	2: 76,677,495 (GRCm39)		probably benign	Het
Wasf3	T	C	5: 146,407,018 (GRCm39)		probably benign	Het
Zbtb37	C	T	1: 160,859,592 (GRCm39)	E238K	probably benign	Het
Zfp354c	A	G	11: 50,706,667 (GRCm39)	I136T	probably benign	Het
Zfp384	G	A	6: 125,013,416 (GRCm39)	A479T	probably benign	Het
Zfp646	T	A	7: 127,479,036 (GRCm39)	N404K	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
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
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'- AGCTTTCCTCTGTCCAAAGAAGCC -3'
(R):5'- GCTGCAATTTCAGGGTGCGTTAC -3'

Sequencing Primer
(F):5'- GTCCAAAGAAGCCCCGGAG -3'
(R):5'- CTCAGTGTCTCAAAAATAATGGTGG -3'

Posted On

2014-02-11