Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Ism2'

628646

Institutional Source

Beutler Lab

Gene Symbol

Ism2

Ensembl Gene

ENSMUSG00000050671

Gene Name

isthmin 2

Synonyms

LOC217738, Thsd3

MMRRC Submission

045833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87325412-87346479 bp(-) (GRCm39)

Type of Mutation

splice site (11 bp from exon)

DNA Base Change (assembly)

T to A at 87333658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051601] [ENSMUST00000125733]

AlphaFold

D3Z6A3

Predicted Effect

probably null
Transcript: ENSMUST00000051601

SMART Domains

Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671

Domain	Start	End	E-Value	Type
low complexity region	52	68	N/A	INTRINSIC
TSP1	206	248	3.9e-7	SMART
AMOP	273	437	1.21e-75	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125733

SMART Domains

Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	96	112	N/A	INTRINSIC
TSP1	250	292	3.9e-7	SMART
AMOP	317	481	1.21e-75	SMART

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,758 (GRCm39)	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,995,373 (GRCm39)	T353A	probably damaging	Het
Cabyr	A	G	18: 12,877,828 (GRCm39)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,584,733 (GRCm39)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,498,947 (GRCm39)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,573 (GRCm39)	I105V	probably benign	Het
Fras1	A	G	5: 96,900,763 (GRCm39)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,228,641 (GRCm39)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,139,911 (GRCm39)	Y164*	probably null	Het
Gm4353	T	G	7: 115,682,998 (GRCm39)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,413,085 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,254,268 (GRCm39)	T196I	probably benign	Het
Lcor	T	G	19: 41,547,234 (GRCm39)	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lysmd4	T	A	7: 66,873,446 (GRCm39)	M27K	possibly damaging	Het
Muc17	G	A	5: 137,175,564 (GRCm39)		silent	Het
Or11h4b	A	T	14: 50,918,261 (GRCm39)	Y277N	probably damaging	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or5m10	A	G	2: 85,717,951 (GRCm39)	E269G	possibly damaging	Het
Oscp1	T	C	4: 125,958,774 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,549,913 (GRCm39)	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,062,677 (GRCm39)	G96R	possibly damaging	Het
Plcd3	G	C	11: 102,965,481 (GRCm39)	R535G	probably benign	Het
Plcg1	A	G	2: 160,596,523 (GRCm39)	M681V	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,575,022 (GRCm39)	D836E	probably benign	Het
Pramel12	T	C	4: 143,144,331 (GRCm39)	Y226H	possibly damaging	Het
Prkag1	A	T	15: 98,712,478 (GRCm39)	I149N	probably damaging	Het
Prkci	A	T	3: 31,104,362 (GRCm39)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,591,846 (GRCm39)	W276*	probably null	Het
Ptprn	T	C	1: 75,228,946 (GRCm39)	D823G	possibly damaging	Het
Radil	A	C	5: 142,529,303 (GRCm39)	F131C	probably damaging	Het
Rif1	A	G	2: 52,006,368 (GRCm39)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,361,713 (GRCm39)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,512,212 (GRCm39)	K561*	probably null	Het
Spata31g1	C	T	4: 42,970,171 (GRCm39)	Q53*	probably null	Het
Spata31g1	T	C	4: 42,971,095 (GRCm39)	S143P	probably benign	Het
Tbx5	A	C	5: 120,021,232 (GRCm39)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,480,963 (GRCm39)		probably null	Het
Tnfaip8l2	T	C	3: 95,047,307 (GRCm39)	*185W	probably null	Het
Tpst2	A	G	5: 112,457,560 (GRCm39)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,467,688 (GRCm39)	S801T	probably damaging	Het
Usp34	A	G	11: 23,332,638 (GRCm39)	S1141G		Het
Uts2r	A	G	11: 121,052,279 (GRCm39)	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,381,314 (GRCm39)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,801,884 (GRCm39)	M223K	probably benign	Het
Wdr64	T	C	1: 175,617,564 (GRCm39)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,208,081 (GRCm39)	F80S	possibly damaging	Het

Other mutations in Ism2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Aedes	UTSW	12	87,326,969 (GRCm39)	missense	probably damaging	1.00
canal	UTSW	12	87,326,835 (GRCm39)	missense	probably damaging	1.00
narrows	UTSW	12	87,332,113 (GRCm39)	missense	probably damaging	1.00
panamin	UTSW	12	87,333,658 (GRCm39)	splice site	probably null
Zone	UTSW	12	87,346,437 (GRCm39)	missense	unknown
PIT4243001:Ism2	UTSW	12	87,333,832 (GRCm39)	missense	probably benign	0.00
R0544:Ism2	UTSW	12	87,332,113 (GRCm39)	missense	probably damaging	1.00
R0747:Ism2	UTSW	12	87,332,172 (GRCm39)	splice site	probably benign
R2258:Ism2	UTSW	12	87,326,848 (GRCm39)	missense	possibly damaging	0.92
R2859:Ism2	UTSW	12	87,346,437 (GRCm39)	missense	unknown
R3423:Ism2	UTSW	12	87,333,871 (GRCm39)	missense	probably benign	0.00
R3425:Ism2	UTSW	12	87,333,871 (GRCm39)	missense	probably benign	0.00
R4115:Ism2	UTSW	12	87,333,805 (GRCm39)	missense	probably benign	0.02
R4713:Ism2	UTSW	12	87,331,801 (GRCm39)	splice site	silent
R4769:Ism2	UTSW	12	87,346,355 (GRCm39)	missense	probably benign	0.06
R5313:Ism2	UTSW	12	87,326,536 (GRCm39)	missense	probably damaging	1.00
R5857:Ism2	UTSW	12	87,326,835 (GRCm39)	missense	probably damaging	1.00
R5984:Ism2	UTSW	12	87,333,809 (GRCm39)	missense	possibly damaging	0.77
R6389:Ism2	UTSW	12	87,329,145 (GRCm39)	missense	possibly damaging	0.49
R6838:Ism2	UTSW	12	87,326,975 (GRCm39)	missense	probably benign	0.23
R7019:Ism2	UTSW	12	87,346,437 (GRCm39)	missense	unknown
R7358:Ism2	UTSW	12	87,326,814 (GRCm39)	missense	probably damaging	1.00
R7427:Ism2	UTSW	12	87,333,769 (GRCm39)	missense	possibly damaging	0.76
R7428:Ism2	UTSW	12	87,333,769 (GRCm39)	missense	possibly damaging	0.76
R7824:Ism2	UTSW	12	87,326,634 (GRCm39)	missense	probably damaging	1.00
R7973:Ism2	UTSW	12	87,333,769 (GRCm39)	missense	possibly damaging	0.76
R9006:Ism2	UTSW	12	87,326,969 (GRCm39)	missense	probably damaging	1.00
R9274:Ism2	UTSW	12	87,331,827 (GRCm39)	nonsense	probably null
R9306:Ism2	UTSW	12	87,333,826 (GRCm39)	missense	probably benign	0.45
Z1177:Ism2	UTSW	12	87,326,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATAGTCCTGCTGGCTTTGTCC -3'
(R):5'- ATTCCCTGGAGACCATCTGC -3'

Sequencing Primer
(F):5'- CCTGCTACATCCAGGGTCAAGTC -3'
(R):5'- TGGAGACCATCTGCAGACAG -3'

Posted On

2020-06-01