Mutagenetix > Incidental Mutation

Incidental Mutation 'R9306:Ism2'

705232

Institutional Source

Beutler Lab

Gene Symbol

Ism2

Ensembl Gene

ENSMUSG00000050671

Gene Name

isthmin 2

Synonyms

LOC217738, Thsd3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9306 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87325412-87346479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87333826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 73 (C73Y)

Ref Sequence

ENSEMBL: ENSMUSP00000117108 (fasta)

Gene Model

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

AlphaFold

D3Z6A3

Predicted Effect

probably benign
Transcript: ENSMUST00000051601
AA Change: C29Y

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: C29Y

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 benign
Transcript: ENSMUST00000125733
AA Change: C73Y

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: C73Y

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	G	A	8: 25,136,420 (GRCm39)	S367L	possibly damaging	Het
Alox12b	A	T	11: 69,060,396 (GRCm39)	I651F	possibly damaging	Het
Arfgef2	A	G	2: 166,723,188 (GRCm39)	K1543E	probably benign	Het
Arhgap24	A	G	5: 102,994,008 (GRCm39)	I30V	possibly damaging	Het
Atad2	A	T	15: 57,959,994 (GRCm39)	Y1343*	probably null	Het
Clca3a1	A	G	3: 144,730,339 (GRCm39)	Y169H	probably damaging	Het
Cspg4b	A	G	13: 113,506,010 (GRCm39)	T2380A	unknown	Het
Eno1b	G	A	18: 48,180,922 (GRCm39)	V367I	probably benign	Het
Fbh1	T	C	2: 11,772,387 (GRCm39)	E98G	probably benign	Het
Fbxw14	A	T	9: 109,100,280 (GRCm39)	M458K	probably benign	Het
Galnt13	A	T	2: 54,823,569 (GRCm39)	I382F	probably benign	Het
Hoxa10	T	C	6: 52,209,635 (GRCm39)	T368A	possibly damaging	Het
Kif15	T	C	9: 122,807,056 (GRCm39)	V264A	probably damaging	Het
Lars1	T	C	18: 42,358,884 (GRCm39)		probably null	Het
Lmtk2	T	A	5: 144,119,599 (GRCm39)	H1353Q	probably benign	Het
Lrp1b	A	T	2: 40,518,762 (GRCm39)	C157S	possibly damaging	Het
Map3k7cl	A	G	16: 87,391,149 (GRCm39)	D91G	possibly damaging	Het
Mapk8ip1	A	T	2: 92,219,428 (GRCm39)	D134E	probably benign	Het
Meaf6	A	T	4: 124,996,766 (GRCm39)	T159S	unknown	Het
Moxd1	A	G	10: 24,128,824 (GRCm39)		probably benign	Het
Mup8	T	A	4: 60,219,682 (GRCm39)	E195V	possibly damaging	Het
Nox4	A	T	7: 86,896,781 (GRCm39)	Q48L	probably benign	Het
Or1j19	T	A	2: 36,677,407 (GRCm39)	I290N	probably damaging	Het
Or52d3	T	A	7: 104,229,128 (GRCm39)	W92R	probably damaging	Het
Or6c219	G	A	10: 129,781,289 (GRCm39)	S99F	probably damaging	Het
Otop3	G	T	11: 115,237,248 (GRCm39)	V571L	probably benign	Het
Oxr1	A	G	15: 41,686,861 (GRCm39)	H581R	possibly damaging	Het
Pappa2	A	T	1: 158,764,492 (GRCm39)	F340I	probably damaging	Het
Pcdh10	G	A	3: 45,335,804 (GRCm39)	G706D	probably benign	Het
Pdia5	A	T	16: 35,250,353 (GRCm39)	V202D	probably damaging	Het
Pdpn	G	A	4: 143,000,601 (GRCm39)	T77M	probably damaging	Het
Phf11	T	A	14: 59,482,294 (GRCm39)	D153V	probably damaging	Het
Pira1	T	A	7: 3,740,360 (GRCm39)	Q287L	probably benign	Het
Ptprq	T	C	10: 107,422,599 (GRCm39)	T1598A	probably benign	Het
Slc27a6	C	T	18: 58,742,953 (GRCm39)	T547I	possibly damaging	Het
Smoc1	G	A	12: 81,214,430 (GRCm39)	V282I	possibly damaging	Het
Sppl3	C	A	5: 115,212,922 (GRCm39)	N50K	probably benign	Het
Taar5	T	C	10: 23,846,781 (GRCm39)	S60P	possibly damaging	Het
Tgtp2	G	T	11: 48,949,865 (GRCm39)	Q236K	probably benign	Het
Timd5	A	C	11: 46,419,519 (GRCm39)	M112L	probably benign	Het
Vmn1r8	T	A	6: 57,013,713 (GRCm39)	W255R	probably benign	Het
Vmn2r11	C	T	5: 109,196,831 (GRCm39)	C547Y	probably damaging	Het
Vmn2r96	A	G	17: 18,803,226 (GRCm39)	T187A	probably benign	Het
Vwa1	G	A	4: 155,855,328 (GRCm39)	P262S	probably benign	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
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
Z1177:Ism2	UTSW	12	87,326,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGGTTAGGCTCAGTTGC -3'
(R):5'- TAAACATGTGCTCCAGGTGCTC -3'

Sequencing Primer
(F):5'- GAGGTTCCCCTAGGCAAACAATG -3'
(R):5'- TCCAGGTGCTCACAGTCACAG -3'

Posted On

2022-03-25