Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Ifi208'

539262

Institutional Source

Beutler Lab

Gene Symbol

Ifi208

Ensembl Gene

ENSMUSG00000066677

Gene Name

interferon activated gene 208

Synonyms

Pydc3, E430029J22Rik, Pyr-rv1

MMRRC Submission

045036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173501241-173525961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173510444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 200 (G200S)

Ref Sequence

ENSEMBL: ENSMUSP00000128958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085876] [ENSMUST00000169857]

AlphaFold

Q3V3Q4

Predicted Effect

probably damaging
Transcript: ENSMUST00000085876
AA Change: G200S

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

SMART Domains

Protein: ENSMUSP00000083039
Gene: ENSMUSG00000066677
AA Change: G200S

Domain	Start	End	E-Value	Type
PYRIN	10	88	3.23e-20	SMART
low complexity region	101	112	N/A	INTRINSIC
low complexity region	211	222	N/A	INTRINSIC
low complexity region	488	504	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169857
AA Change: G200S

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

SMART Domains

Protein: ENSMUSP00000128958
Gene: ENSMUSG00000066677
AA Change: G200S

Domain	Start	End	E-Value	Type
PYRIN	10	88	3.23e-20	SMART
low complexity region	101	112	N/A	INTRINSIC
low complexity region	211	222	N/A	INTRINSIC
Pfam:HERV-K_REC	502	580	3.5e-9	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,422,390 (GRCm39)	L334I	probably damaging	Het
Akap9	T	A	5: 4,010,551 (GRCm39)	M436K	probably benign	Het
Ankmy1	A	C	1: 92,816,173 (GRCm39)	F314V	probably null	Het
Arid5b	G	A	10: 68,022,042 (GRCm39)	Q183*	probably null	Het
Atp8b4	A	T	2: 126,200,834 (GRCm39)	L778*	probably null	Het
BC024139	G	T	15: 76,004,221 (GRCm39)	N739K	probably benign	Het
Carns1	T	G	19: 4,219,912 (GRCm39)	H441P	probably benign	Het
Cby2	T	A	14: 75,830,098 (GRCm39)	T32S	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,523 (GRCm39)	W394R	probably damaging	Het
Cfap70	T	A	14: 20,459,153 (GRCm39)	I693F	probably benign	Het
Cldn3	A	G	5: 135,015,426 (GRCm39)	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,796,686 (GRCm39)	P1608L	probably benign	Het
Cr2	T	A	1: 194,853,454 (GRCm39)	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,424,512 (GRCm39)	I269F	probably damaging	Het
Dapk1	A	T	13: 60,844,256 (GRCm39)	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,759,771 (GRCm39)	L292*	probably null	Het
Dhx38	T	C	8: 110,286,231 (GRCm39)	E353G	probably benign	Het
Dnm3	T	C	1: 162,145,966 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,762,488 (GRCm39)	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,321,500 (GRCm39)	V351D	possibly damaging	Het
Epg5	T	A	18: 78,022,380 (GRCm39)	V1041E	probably benign	Het
Exoc4	A	G	6: 33,898,388 (GRCm39)	K869R	possibly damaging	Het
Fat3	C	A	9: 16,289,044 (GRCm39)	V160F	probably benign	Het
Gak	A	T	5: 108,750,816 (GRCm39)	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,360,104 (GRCm39)		probably null	Het
Gm21738	A	G	14: 19,415,933 (GRCm38)	M202T	probably benign	Het
Havcr2	C	T	11: 46,366,738 (GRCm39)	S177L	probably benign	Het
Hkdc1	G	C	10: 62,237,711 (GRCm39)	R353G	possibly damaging	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Lair1	A	T	7: 4,058,952 (GRCm39)	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,562,293 (GRCm39)	N26D	probably damaging	Het
Lyst	T	A	13: 13,900,629 (GRCm39)	D3168E	probably benign	Het
Map6	G	A	7: 98,917,454 (GRCm39)	A76T	probably damaging	Het
Mcoln3	A	T	3: 145,843,011 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,587,312 (GRCm39)	F2718L	probably benign	Het
Nek11	C	G	9: 105,270,256 (GRCm39)		probably benign	Het
Or10n7-ps1	T	C	9: 39,597,832 (GRCm39)	E136G	unknown	Het
Or2z8	C	A	8: 72,811,574 (GRCm39)	L17I	probably benign	Het
Or4d6	A	G	19: 12,086,490 (GRCm39)	V140A	probably benign	Het
Pcdh15	A	T	10: 74,479,641 (GRCm39)	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,858,998 (GRCm39)	T18M	probably benign	Het
Per3	T	C	4: 151,128,106 (GRCm39)	M61V	possibly damaging	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,156,947 (GRCm39)	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,789,035 (GRCm39)	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prkce	G	C	17: 86,800,835 (GRCm39)	G417A	probably damaging	Het
Ptar1	A	G	19: 23,680,501 (GRCm39)	N106D	probably damaging	Het
Rbm15	C	A	3: 107,239,627 (GRCm39)	R257L	probably benign	Het
Rptor	T	G	11: 119,647,171 (GRCm39)	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257 (GRCm39)	W350R	probably damaging	Het
Ryr2	T	G	13: 11,760,487 (GRCm39)	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,820,110 (GRCm39)	V379L	possibly damaging	Het
Sox8	C	T	17: 25,786,888 (GRCm39)	V272I	probably damaging	Het
Stard9	C	T	2: 120,533,111 (GRCm39)	H3123Y	probably benign	Het
Taar9	C	T	10: 23,984,910 (GRCm39)	E175K	possibly damaging	Het
Tinag	T	A	9: 76,908,897 (GRCm39)	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,965,687 (GRCm39)	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,118,342 (GRCm39)	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,657 (GRCm39)	Q366K	probably benign	Het
Txndc2	T	C	17: 65,945,286 (GRCm39)	D297G	probably benign	Het
Ulk4	A	G	9: 121,087,886 (GRCm39)	F269L	probably benign	Het
Vps39	A	T	2: 120,151,512 (GRCm39)	Y738*	probably null	Het

Other mutations in Ifi208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Ifi208	APN	1	173,506,604 (GRCm39)	critical splice donor site	probably null
IGL00725:Ifi208	APN	1	173,510,427 (GRCm39)	missense	possibly damaging	0.86
IGL01952:Ifi208	APN	1	173,506,597 (GRCm39)	missense	possibly damaging	0.93
IGL02024:Ifi208	APN	1	173,510,856 (GRCm39)	missense	probably damaging	0.99
IGL02637:Ifi208	APN	1	173,506,508 (GRCm39)	missense	probably benign	0.15
IGL02829:Ifi208	APN	1	173,510,406 (GRCm39)	missense	probably damaging	0.99
IGL03216:Ifi208	APN	1	173,506,507 (GRCm39)	missense	possibly damaging	0.68
IGL03398:Ifi208	APN	1	173,510,817 (GRCm39)	missense	probably damaging	0.96
FR4304:Ifi208	UTSW	1	173,505,264 (GRCm39)	small deletion	probably benign
FR4340:Ifi208	UTSW	1	173,505,264 (GRCm39)	small deletion	probably benign
FR4342:Ifi208	UTSW	1	173,505,264 (GRCm39)	small deletion	probably benign
R0022:Ifi208	UTSW	1	173,510,612 (GRCm39)	missense	possibly damaging	0.91
R0468:Ifi208	UTSW	1	173,511,047 (GRCm39)	missense	probably benign	0.08
R0734:Ifi208	UTSW	1	173,510,901 (GRCm39)	missense	probably damaging	0.98
R0780:Ifi208	UTSW	1	173,510,262 (GRCm39)	missense	probably benign	0.06
R1070:Ifi208	UTSW	1	173,510,610 (GRCm39)	missense	probably damaging	0.99
R1339:Ifi208	UTSW	1	173,510,804 (GRCm39)	missense	probably damaging	0.99
R1473:Ifi208	UTSW	1	173,523,220 (GRCm39)	missense	possibly damaging	0.53
R1755:Ifi208	UTSW	1	173,505,476 (GRCm39)	missense	possibly damaging	0.86
R3012:Ifi208	UTSW	1	173,523,136 (GRCm39)	critical splice acceptor site	probably null
R3692:Ifi208	UTSW	1	173,510,438 (GRCm39)	missense	possibly damaging	0.93
R4175:Ifi208	UTSW	1	173,510,267 (GRCm39)	missense	probably benign	0.01
R4235:Ifi208	UTSW	1	173,510,477 (GRCm39)	missense	probably benign	0.06
R4749:Ifi208	UTSW	1	173,523,180 (GRCm39)	missense	possibly damaging	0.70
R4815:Ifi208	UTSW	1	173,510,403 (GRCm39)	missense	probably damaging	0.96
R5116:Ifi208	UTSW	1	173,505,549 (GRCm39)	intron	probably benign
R5138:Ifi208	UTSW	1	173,518,239 (GRCm39)	missense	probably null	0.29
R5210:Ifi208	UTSW	1	173,510,831 (GRCm39)	missense	probably benign
R5304:Ifi208	UTSW	1	173,511,174 (GRCm39)	missense	probably benign
R6126:Ifi208	UTSW	1	173,505,274 (GRCm39)	missense	possibly damaging	0.91
R6558:Ifi208	UTSW	1	173,510,589 (GRCm39)	missense	probably damaging	0.99
R7513:Ifi208	UTSW	1	173,523,220 (GRCm39)	nonsense	probably null
R7972:Ifi208	UTSW	1	173,506,556 (GRCm39)	missense	possibly damaging	0.68
R8143:Ifi208	UTSW	1	173,510,242 (GRCm39)	missense	possibly damaging	0.91
R8383:Ifi208	UTSW	1	173,511,075 (GRCm39)	missense	possibly damaging	0.93
R8431:Ifi208	UTSW	1	173,510,844 (GRCm39)	missense	possibly damaging	0.85
R8794:Ifi208	UTSW	1	173,523,370 (GRCm39)	missense	possibly damaging	0.71
R8823:Ifi208	UTSW	1	173,511,102 (GRCm39)	missense	probably damaging	0.99
R8849:Ifi208	UTSW	1	173,506,184 (GRCm39)	intron	probably benign
R9127:Ifi208	UTSW	1	173,523,400 (GRCm39)	missense	probably benign	0.02
R9225:Ifi208	UTSW	1	173,518,294 (GRCm39)	missense	possibly damaging	0.85
R9336:Ifi208	UTSW	1	173,510,394 (GRCm39)	missense	probably damaging	0.99
R9487:Ifi208	UTSW	1	173,510,961 (GRCm39)	missense	probably damaging	0.99
RF027:Ifi208	UTSW	1	173,505,262 (GRCm39)	small deletion	probably benign
RF029:Ifi208	UTSW	1	173,505,262 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTCAGGAAAGCAAAGATACTATCCC -3'
(R):5'- TGAGTCATCTGAGTGGCCTG -3'

Sequencing Primer
(F):5'- TACCATGACAACACAGTTTTTGGAGG -3'
(R):5'- TCATCTGAGTGGCCTGGACAC -3'

Posted On

2018-11-06