Mutagenetix > Incidental Mutation

Incidental Mutation 'R3737:Ifi203'

270150

Institutional Source

Beutler Lab

Gene Symbol

Ifi203

Ensembl Gene

ENSMUSG00000039997

Gene Name

interferon activated gene 203

Synonyms

MMRRC Submission

040724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R3737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173920407-173942672 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 173929474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042228] [ENSMUST00000081216] [ENSMUST00000111210] [ENSMUST00000123708] [ENSMUST00000129829] [ENSMUST00000156895]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042228

SMART Domains

Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
Pfam:HIN	251	418	1.5e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081216

SMART Domains

Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	174	183	N/A	INTRINSIC
Pfam:HIN	203	370	1.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111210

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

Domain	Start	End	E-Value	Type
PYRIN	5	83	3.71e-20	SMART
internal_repeat_1	152	166	2.38e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	2.38e-7	PROSPERO
low complexity region	225	249	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
Pfam:HIN	311	479	3.4e-76	PFAM
low complexity region	497	507	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123708

SMART Domains

Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	174	183	N/A	INTRINSIC
Pfam:HIN	203	370	1.3e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128430

Predicted Effect

unknown
Transcript: ENSMUST00000129829
AA Change: T248S

SMART Domains

Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: T248S

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
low complexity region	607	623	N/A	INTRINSIC
Pfam:HIN	665	831	7.2e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138143

Predicted Effect

probably benign
Transcript: ENSMUST00000156895

SMART Domains

Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
Pfam:HIN	251	418	1.5e-77	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Arap1	A	T	7: 101,400,277	Y982F	possibly damaging	Het
Bicral	A	T	17: 46,825,910	Y125N	probably damaging	Het
Brd2	A	G	17: 34,117,080	L53S	probably benign	Het
Ccdc88c	G	A	12: 100,930,524	A1389V	possibly damaging	Het
Cdk17	G	A	10: 93,221,644		probably null	Het
Clca3a1	A	G	3: 144,730,721	V867A	probably benign	Het
Dchs1	T	A	7: 105,762,316	D1531V	possibly damaging	Het
Dnah9	G	A	11: 66,156,908	Q29*	probably null	Het
Dopey1	T	C	9: 86,494,433	V240A	probably damaging	Het
Fgfbp1	T	C	5: 43,979,596	Y118C	probably damaging	Het
Gal3st2c	A	G	1: 94,009,328	I332V	possibly damaging	Het
Gprc6a	A	C	10: 51,626,911	N285K	probably benign	Het
Hcn4	A	G	9: 58,843,889	D266G	probably benign	Het
Hmcn2	A	T	2: 31,336,612	K200*	probably null	Het
Hmgcr	C	G	13: 96,651,063	L852F	probably damaging	Het
Il1f5	T	C	2: 24,281,203	F101S	probably damaging	Het
Isl2	A	G	9: 55,542,470	S119G	probably benign	Het
Kctd9	G	A	14: 67,734,288	D157N	possibly damaging	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,804,474	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Mon2	A	G	10: 123,013,375	L1340P	probably damaging	Het
Myh9	G	A	15: 77,766,812	R1612C	probably damaging	Het
Nlrp4f	T	C	13: 65,194,007	N608S	probably benign	Het
Nolc1	CAG	CAGTAG	19: 46,081,353		probably benign	Het
Nolc1	GCA	GCAACA	19: 46,081,370		probably benign	Het
Nolc1	C	CAGT	19: 46,081,377		probably benign	Het
Olfr878	G	A	9: 37,918,641		probably benign	Het
Osbpl2	G	A	2: 180,161,560	R475H	probably damaging	Het
Pcm1	T	A	8: 41,261,043	Y215*	probably null	Het
Pde6c	T	A	19: 38,140,224	V212D	probably damaging	Het
Ppl	T	C	16: 5,106,857	T115A	probably benign	Het
Prtg	G	T	9: 72,842,709	E132*	probably null	Het
R3hcc1	C	T	14: 69,697,593	R262Q	probably benign	Het
Serpinb6d	T	A	13: 33,667,680	V140E	probably damaging	Het
Ska3	A	T	14: 57,811,596	M306K	probably benign	Het
Spesp1	T	A	9: 62,273,036	I197L	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Tprgl	T	C	4: 154,160,128	I137V	probably benign	Het
Ttk	C	A	9: 83,854,837	P450T	possibly damaging	Het
Ube2j1	A	T	4: 33,036,723	M16L	probably benign	Het
Ubr3	G	A	2: 69,971,234		probably null	Het
Usp42	C	T	5: 143,715,439	S943N	probably benign	Het
Usp49	G	A	17: 47,672,318	V83M	probably damaging	Het
Usp6nl	C	A	2: 6,440,917	N568K	probably damaging	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Vmn1r55	T	G	7: 5,147,196	D76A	probably damaging	Het
Xrcc6	T	C	15: 82,029,631	Y53H	probably damaging	Het
Zbtb7c	T	G	18: 76,136,940	L33R	probably damaging	Het

Other mutations in Ifi203

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Ifi203	APN	1	173937740	critical splice donor site	probably null
IGL02598:Ifi203	APN	1	173935002	splice site	probably benign
IGL03172:Ifi203	APN	1	173936592	missense	possibly damaging	0.94
IGL03334:Ifi203	APN	1	173937835	nonsense	probably null
FR4304:Ifi203	UTSW	1	173928328	intron	probably benign
R0593:Ifi203	UTSW	1	173928649	intron	probably benign
R0827:Ifi203	UTSW	1	173928463	intron	probably benign
R1163:Ifi203	UTSW	1	173924137	missense	probably damaging	0.98
R1769:Ifi203	UTSW	1	173928760	nonsense	probably null
R3415:Ifi203	UTSW	1	173928760	nonsense	probably null
R3738:Ifi203	UTSW	1	173929474	intron	probably benign
R3739:Ifi203	UTSW	1	173929474	intron	probably benign
R3791:Ifi203	UTSW	1	173935080	missense	possibly damaging	0.83
R3847:Ifi203	UTSW	1	173933796	missense	possibly damaging	0.84
R4035:Ifi203	UTSW	1	173929474	intron	probably benign
R4156:Ifi203	UTSW	1	173936540	missense	probably damaging	0.98
R4164:Ifi203	UTSW	1	173928463	intron	probably benign
R4171:Ifi203	UTSW	1	173933775	splice site	probably benign
R4200:Ifi203	UTSW	1	173924115	missense	probably damaging	0.99
R4233:Ifi203	UTSW	1	173936533	missense	possibly damaging	0.92
R4845:Ifi203	UTSW	1	173927029	missense	probably benign	0.00
R4880:Ifi203	UTSW	1	173929150	intron	probably benign
R5071:Ifi203	UTSW	1	173935110	missense	possibly damaging	0.92
R5108:Ifi203	UTSW	1	173924014	missense	probably damaging	1.00
R5284:Ifi203	UTSW	1	173928708	intron	probably benign
R5335:Ifi203	UTSW	1	173926919	missense	possibly damaging	0.71
R6198:Ifi203	UTSW	1	173924082	missense	probably damaging	0.97
R6236:Ifi203	UTSW	1	173933913	missense	probably benign	0.33
R6397:Ifi203	UTSW	1	173927204	missense	probably benign	0.33
R6929:Ifi203	UTSW	1	173928774	intron	probably benign
R7025:Ifi203	UTSW	1	173928385	intron	probably benign
R7149:Ifi203	UTSW	1	173928928	missense	unknown
R7320:Ifi203	UTSW	1	173929167	missense	unknown
R7631:Ifi203	UTSW	1	173927122	missense	unknown
R7913:Ifi203	UTSW	1	173926957	missense	probably damaging	1.00
R8183:Ifi203	UTSW	1	173928700	missense	unknown
R8297:Ifi203	UTSW	1	173937930	missense	probably damaging	1.00
R8537:Ifi203	UTSW	1	173928906	intron	probably benign
R8919:Ifi203	UTSW	1	173928928	missense	unknown
R8936:Ifi203	UTSW	1	173929291	intron	probably benign
R9081:Ifi203	UTSW	1	173929482	missense	unknown
R9223:Ifi203	UTSW	1	173937871	missense	probably benign	0.42
R9255:Ifi203	UTSW	1	173929221	missense	unknown
R9351:Ifi203	UTSW	1	173922567	missense	probably benign	0.33
R9397:Ifi203	UTSW	1	173937981	missense	probably damaging	0.99
R9506:Ifi203	UTSW	1	173923999	missense	possibly damaging	0.93
R9586:Ifi203	UTSW	1	173927057	nonsense	probably null
R9598:Ifi203	UTSW	1	173923956	missense	probably damaging	1.00
Z1088:Ifi203	UTSW	1	173928581	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACACTGGAAGATTGTGGC -3'
(R):5'- CTAAGTGGTAGCCTAAGTGTGG -3'

Sequencing Primer
(F):5'- TGATGTTGGAGAGATTGGAGACATC -3'
(R):5'- CTGACAGGATAAAAGTCCTC -3'

Posted On

2015-03-18