Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Ifi203'

277404

Institutional Source

Beutler Lab

Gene Symbol

Ifi203

Ensembl Gene

ENSMUSG00000039997

Gene Name

interferon activated gene 203

Synonyms

MMRRC Submission

040895-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173920407-173942672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 173933796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 229 (C229Y)

Ref Sequence

ENSEMBL: ENSMUSP00000122424 (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
AA Change: C229Y

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: C229Y

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

possibly damaging
Transcript: ENSMUST00000129829
AA Change: C229Y

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: C229Y

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

noncoding transcript
Transcript: ENSMUST00000140143

Predicted Effect

probably benign
Transcript: ENSMUST00000156895
AA Change: C229Y

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: C229Y

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		probably benign	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
R3737:Ifi203	UTSW	1	173929474	intron	probably benign
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
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'- GTGTAGACTGGCCAGTACCC -3'
(R):5'- TGGAATAAAGTCCTTGGGCACA -3'

Sequencing Primer
(F):5'- GTGTAGACTGGCCAGTACCCATAATC -3'
(R):5'- TGGTTTCAATAAGCCGACGC -3'

Posted On

2015-04-06