Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00725:Ifi208'

13710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ifi208

Ensembl Gene

ENSMUSG00000066677

Gene Name

interferon activated gene 208

Synonyms

Pydc3, E430029J22Rik, Pyr-rv1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00725

Quality Score

Status

Chromosome

Chromosomal Location

173501241-173525961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173510427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 194 (I194T)

Ref Sequence

ENSEMBL: ENSMUSP00000128958 (fasta)

Gene Model

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

AlphaFold

Q3V3Q4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085876
AA Change: I194T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083039
Gene: ENSMUSG00000066677
AA Change: I194T

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

possibly damaging
Transcript: ENSMUST00000169857
AA Change: I194T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128958
Gene: ENSMUSG00000066677
AA Change: I194T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182880

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	G	T	3: 35,881,222 (GRCm39)	R593L	probably damaging	Het
Axl	A	T	7: 25,463,908 (GRCm39)	D566E	probably damaging	Het
Ccp110	A	G	7: 118,329,946 (GRCm39)	D912G	probably damaging	Het
Clca3b	C	T	3: 144,544,923 (GRCm39)	D355N	probably benign	Het
Clock	A	C	5: 76,402,260 (GRCm39)	Y133*	probably null	Het
Cntn4	T	A	6: 106,639,616 (GRCm39)	V582E	probably damaging	Het
Ddx1	A	G	12: 13,277,460 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,295,691 (GRCm39)	L43P	probably damaging	Het
Dnase2b	G	A	3: 146,302,133 (GRCm39)	T8I	probably benign	Het
Ermard	T	C	17: 15,208,328 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,331,752 (GRCm39)	V22A	probably damaging	Het
Krt9	T	A	11: 100,080,832 (GRCm39)	E340V	probably damaging	Het
Nup58	G	T	14: 60,480,889 (GRCm39)	T152K	possibly damaging	Het
Otog	A	G	7: 45,923,516 (GRCm39)	S1050G	probably damaging	Het
Prkdc	A	G	16: 15,634,503 (GRCm39)	N3580S	probably benign	Het
Rsbn1	T	C	3: 103,836,137 (GRCm39)	S392P	probably damaging	Het
Sestd1	T	C	2: 77,018,866 (GRCm39)	I647V	probably benign	Het
Sugct	A	T	13: 17,837,357 (GRCm39)	S91R	probably damaging	Het
Syne1	A	G	10: 5,344,922 (GRCm38)	Y1227S	possibly damaging	Het
Synpo	C	T	18: 60,737,149 (GRCm39)	V27I	probably damaging	Het
Tcp11l2	T	C	10: 84,430,574 (GRCm39)	I233T	possibly damaging	Het
Vwde	A	G	6: 13,187,411 (GRCm39)	V692A	probably benign	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
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
R6915:Ifi208	UTSW	1	173,510,444 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-12-06