Mutagenetix > Incidental Mutation

Incidental Mutation 'R7358:Ism2'

571130

Institutional Source

Beutler Lab

Gene Symbol

Ism2

Ensembl Gene

ENSMUSG00000050671

Gene Name

isthmin 2

Synonyms

LOC217738, Thsd3

MMRRC Submission

045444-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87325412-87346479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87326814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 375 (F375S)

Ref Sequence

ENSEMBL: ENSMUSP00000117108 (fasta)

Gene Model

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

AlphaFold

D3Z6A3

Predicted Effect

probably damaging
Transcript: ENSMUST00000051601
AA Change: F331S

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

SMART Domains

Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: F331S

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 damaging
Transcript: ENSMUST00000125733
AA Change: F375S

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

SMART Domains

Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: F375S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,510,529 (GRCm39)	Q983L	probably benign	Het
Agtr1a	A	T	13: 30,564,962 (GRCm39)	D9V	probably benign	Het
Ahcyl	T	C	16: 45,974,201 (GRCm39)	E392G	probably damaging	Het
Ankrd13c	T	A	3: 157,697,374 (GRCm39)	Y326*	probably null	Het
Ano2	A	G	6: 125,687,696 (GRCm39)	D67G	probably benign	Het
Arhgef5	G	A	6: 43,256,507 (GRCm39)	R1205H	probably damaging	Het
Ascc3	T	A	10: 50,590,448 (GRCm39)	Y1055*	probably null	Het
Atad5	C	T	11: 80,023,862 (GRCm39)	A1658V	probably benign	Het
Atp6ap1l	T	C	13: 91,031,926 (GRCm39)	D252G	probably damaging	Het
Bdkrb2	T	C	12: 105,558,800 (GRCm39)	V347A	possibly damaging	Het
Ccdc187	A	T	2: 26,146,007 (GRCm39)	L1194Q	probably damaging	Het
Chd9	A	C	8: 91,710,115 (GRCm39)	D770A	unknown	Het
Chd9	A	G	8: 91,760,846 (GRCm39)	D2197G	unknown	Het
Clip2	C	A	5: 134,531,484 (GRCm39)	E774*	probably null	Het
Clspn	A	G	4: 126,459,993 (GRCm39)	T407A	probably benign	Het
Col24a1	T	A	3: 144,998,926 (GRCm39)		probably null	Het
Cradd	T	A	10: 95,158,637 (GRCm39)	T37S	probably damaging	Het
Cspg4b	A	G	13: 113,456,501 (GRCm39)	D849G		Het
Ctbp2	A	G	7: 132,600,610 (GRCm39)	F70S	probably damaging	Het
D3Ertd751e	A	T	3: 41,701,000 (GRCm39)	E6D	probably damaging	Het
Dst	T	A	1: 34,230,754 (GRCm39)	F2782L	probably benign	Het
Dync2h1	A	G	9: 7,159,479 (GRCm39)		probably null	Het
Eif2s1	G	T	12: 78,927,969 (GRCm39)	G215V	probably damaging	Het
Epg5	A	T	18: 78,002,252 (GRCm39)	D557V	possibly damaging	Het
Eya4	C	T	10: 22,999,749 (GRCm39)		probably null	Het
Fpr1	C	A	17: 18,097,242 (GRCm39)	R249L	probably damaging	Het
Fry	A	G	5: 150,339,788 (GRCm39)	T1520A	probably benign	Het
Gapvd1	C	T	2: 34,580,473 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,104,278 (GRCm39)	L161*	probably null	Het
Gid8	A	T	2: 180,359,779 (GRCm39)	K221I	probably benign	Het
Gm21028	A	C	7: 42,227,913 (GRCm39)	C34G	probably damaging	Het
Greb1	A	G	12: 16,774,882 (GRCm39)	S172P	probably damaging	Het
Herc2	A	G	7: 55,832,423 (GRCm39)	I3040V	possibly damaging	Het
Hmcn2	T	A	2: 31,306,824 (GRCm39)	V3190E	probably damaging	Het
Hrnr	G	T	3: 93,230,448 (GRCm39)	G229*	probably null	Het
Igfn1	A	T	1: 135,891,738 (GRCm39)	V2259D	probably damaging	Het
Kcnk4	T	A	19: 6,903,478 (GRCm39)	D357V	probably damaging	Het
Knl1	A	G	2: 118,901,040 (GRCm39)	R914G	possibly damaging	Het
Mars2	T	C	1: 55,276,729 (GRCm39)	S111P	probably damaging	Het
Mogat2	G	A	7: 98,881,673 (GRCm39)	P88S	possibly damaging	Het
Msh2	T	A	17: 88,024,957 (GRCm39)	S612T	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or1j20	T	C	2: 36,759,890 (GRCm39)	V104A	probably benign	Het
Or2d3c	A	T	7: 106,526,111 (GRCm39)	L185Q	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,390 (GRCm39)	L259P	unknown	Het
Or5m11b	T	A	2: 85,805,780 (GRCm39)	S64R	possibly damaging	Het
Or6c202	T	A	10: 128,995,939 (GRCm39)	I305F	probably benign	Het
Or7e174	A	T	9: 20,012,169 (GRCm39)	Y38F	probably damaging	Het
P2rx7	A	T	5: 122,804,205 (GRCm39)		probably null	Het
Pard3	A	T	8: 128,319,573 (GRCm39)	I1149L	probably damaging	Het
Pcdha8	T	A	18: 37,125,830 (GRCm39)	I104N	probably damaging	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pgap2	A	T	7: 101,859,774 (GRCm39)		probably benign	Het
Phf7	T	C	14: 30,963,745 (GRCm39)	R76G	probably benign	Het
Pigu	T	C	2: 155,141,090 (GRCm39)	T268A	probably damaging	Het
Piwil4	T	C	9: 14,641,289 (GRCm39)	T231A	possibly damaging	Het
Pkd1l1	T	G	11: 8,895,202 (GRCm39)	E636A		Het
Plscr3	T	C	11: 69,738,316 (GRCm39)	S55P	unknown	Het
Pnlip	T	A	19: 58,664,976 (GRCm39)	I268N	probably damaging	Het
Podxl	A	T	6: 31,501,929 (GRCm39)	H343Q	probably benign	Het
Prkcd	T	C	14: 30,327,793 (GRCm39)	T213A	probably benign	Het
Prss22	T	A	17: 24,215,419 (GRCm39)	Q119L	probably benign	Het
Psme3ip1	T	C	8: 95,302,327 (GRCm39)	N235D	possibly damaging	Het
Ptprcap	A	G	19: 4,206,238 (GRCm39)	E107G	possibly damaging	Het
Ptprg	A	G	14: 12,154,198 (GRCm38)	T640A	possibly damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,124,448 (GRCm39)	T166A	probably benign	Het
Sbf2	T	C	7: 109,998,555 (GRCm39)	E626G	possibly damaging	Het
Scn2a	T	A	2: 65,512,850 (GRCm39)	Y203*	probably null	Het
Serpinb1a	G	C	13: 33,026,981 (GRCm39)	H320Q	probably damaging	Het
Shisa7	G	A	7: 4,832,920 (GRCm39)	T464I	probably benign	Het
Slc47a2	G	A	11: 61,199,699 (GRCm39)	A399V	possibly damaging	Het
Snrnp200	A	G	2: 127,063,746 (GRCm39)	T642A	probably benign	Het
Spag16	A	G	1: 69,883,526 (GRCm39)	H85R	probably benign	Het
Spata31h1	A	G	10: 82,127,847 (GRCm39)	L1721S	possibly damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stag3	C	A	5: 138,299,770 (GRCm39)	L894M	probably damaging	Het
Sun2	A	T	15: 79,618,313 (GRCm39)	F284Y	probably benign	Het
Tpx2	T	A	2: 152,718,550 (GRCm39)	N184K	probably benign	Het
Trpa1	A	T	1: 14,968,334 (GRCm39)	N477K	probably damaging	Het
Ttbk2	C	T	2: 120,620,791 (GRCm39)	R157H	probably damaging	Het
Ttn	C	T	2: 76,537,649 (GRCm39)	E34760K	probably benign	Het
Tysnd1	T	C	10: 61,532,427 (GRCm39)	S360P	probably damaging	Het
Uqcc5	A	G	14: 30,846,560 (GRCm39)	V53A	probably damaging	Het
Usp34	T	A	11: 23,311,683 (GRCm39)	L511I	probably damaging	Het
Vmn2r71	A	T	7: 85,273,468 (GRCm39)	T761S	possibly damaging	Het
Zdhhc18	G	T	4: 133,360,482 (GRCm39)	C73*	probably null	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfy1	T	C	Y: 735,141 (GRCm39)	E214G	unknown	Het
Zmym5	T	A	14: 57,031,597 (GRCm39)	K504*	probably null	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
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
R7777:Ism2	UTSW	12	87,333,658 (GRCm39)	splice site	probably null
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'- AGCCTATCTACCTTGAAGTGAAG -3'
(R):5'- CTTACCCTCTGCAGATGTGGAC -3'

Sequencing Primer
(F):5'- TCTACCTTGAAGTGAAGCTCAGG -3'
(R):5'- CAGCTGTGAGAAGTGGCTG -3'

Posted On

2019-09-13