Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Ism2'

515709

Institutional Source

Beutler Lab

Gene Symbol

Ism2

Ensembl Gene

ENSMUSG00000050671

Gene Name

isthmin 2

Synonyms

LOC217738, Thsd3

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87325412-87346479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87329145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 253 (E253G)

Ref Sequence

ENSEMBL: ENSMUSP00000053451 (fasta)

Gene Model

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

AlphaFold

D3Z6A3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051601
AA Change: E253G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053451
Gene: ENSMUSG00000050671
AA Change: E253G

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: E297G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117108
Gene: ENSMUSG00000050671
AA Change: E297G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145714

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably 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
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
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'- ATACTTGGCTCCAATCCCAC -3'
(R):5'- ACCTTGCTTCTCTGGGAATG -3'

Sequencing Primer
(F):5'- TCCCACCCACAGGAAGATG -3'
(R):5'- TGTGAACATGGGATACTTGCAC -3'

Posted On

2018-05-04