Mutagenetix > Incidental Mutation

Incidental Mutation 'R5043:Ifi206'

393282

Institutional Source

Beutler Lab

Gene Symbol

Ifi206

Ensembl Gene

ENSMUSG00000037849

Gene Name

interferon activated gene 206

Synonyms

Gm4955, Pyblhin-C

MMRRC Submission

042633-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173468485-173491041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173486718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 52 (M52K)

Ref Sequence

ENSEMBL: ENSMUSP00000134646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160565]

AlphaFold

G3UZV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000160565
AA Change: M52K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: M52K

Domain	Start	End	E-Value	Type
PYRIN	6	84	5.7e-21	SMART
low complexity region	97	108	N/A	INTRINSIC
internal_repeat_1	154	349	6.25e-15	PROSPERO
internal_repeat_1	342	575	6.25e-15	PROSPERO

Meta Mutation Damage Score

0.7094

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 145,044,100	Y106*	probably null	Het
1700061G19Rik	A	G	17: 56,885,198	Y587C	probably damaging	Het
Akap12	G	C	10: 4,355,047	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,974,004	K32E	probably benign	Het
Capg	T	A	6: 72,558,254	Y253*	probably null	Het
Cntnap3	A	T	13: 64,794,348	F189L	probably damaging	Het
Cp	T	C	3: 19,973,917	S496P	probably benign	Het
Cxcl11	T	C	5: 92,363,152		probably null	Het
Dennd3	T	C	15: 73,527,936	L217P	probably benign	Het
Dip2c	G	T	13: 9,551,827	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,884,190	S3776L	probably damaging	Het
Emcn	A	G	3: 137,391,601	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,492,867	Y397*	probably null	Het
Gabrp	T	C	11: 33,568,072	N79D	probably benign	Het
Glmp	T	G	3: 88,326,676		probably benign	Het
Gm12794	T	C	4: 101,940,524	F40L	possibly damaging	Het
Gm5921	C	T	9: 115,438,019		noncoding transcript	Het
Gm6483	A	G	8: 19,693,670	T104A	probably benign	Het
Iqcc	T	C	4: 129,618,277		probably benign	Het
Klra2	T	A	6: 131,220,172	H288L	probably benign	Het
Myo5b	T	C	18: 74,638,153		probably null	Het
Nisch	A	G	14: 31,176,465		probably benign	Het
Nlrp4c	A	G	7: 6,066,825	N575S	probably benign	Het
Olfr354	A	C	2: 36,906,965	R6S	probably benign	Het
Olfr913	A	G	9: 38,594,841	I207V	probably damaging	Het
Phlda1	T	A	10: 111,507,291	L296Q	unknown	Het
Rab36	G	A	10: 75,051,005	E182K	probably benign	Het
Rasa3	G	A	8: 13,570,368	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,369,465	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,237,466	N221T	probably damaging	Het
Smg6	T	C	11: 74,929,895	S331P	possibly damaging	Het
Snx1	C	T	9: 66,097,436	A183T	probably benign	Het
Srpk2	T	C	5: 23,524,517	T375A	probably benign	Het
Tecpr1	T	C	5: 144,197,854		probably null	Het
Topaz1	A	T	9: 122,748,404	E126D	probably benign	Het
Ugt2b1	C	G	5: 86,917,644	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,251,860	W263*	probably null	Het
Utp20	A	T	10: 88,798,746	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,208,465	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,700,827	Y1257C	probably damaging	Het

Other mutations in Ifi206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Ifi206	APN	1	173485576	missense	probably benign	0.00
IGL02044:Ifi206	APN	1	173480991	missense	probably benign	0.41
IGL02118:Ifi206	APN	1	173481768	missense	probably benign	0.05
IGL02476:Ifi206	APN	1	173481566	missense	probably benign	0.02
IGL02824:Ifi206	APN	1	173481872	missense	possibly damaging	0.95
IGL03375:Ifi206	APN	1	173480778	missense	probably benign	0.06
PIT4142001:Ifi206	UTSW	1	173481164	missense	probably benign	0.02
R0069:Ifi206	UTSW	1	173486847	missense	probably damaging	1.00
R0741:Ifi206	UTSW	1	173473749	missense	probably benign	0.41
R1572:Ifi206	UTSW	1	173486853	missense	probably benign	0.10
R1742:Ifi206	UTSW	1	173481971	missense	probably benign	0.06
R4109:Ifi206	UTSW	1	173480988	missense	probably benign	0.00
R4707:Ifi206	UTSW	1	173480866	missense	probably benign	0.00
R4783:Ifi206	UTSW	1	173480866	missense	probably benign	0.00
R4785:Ifi206	UTSW	1	173480866	missense	probably benign	0.00
R4805:Ifi206	UTSW	1	173481386	missense	possibly damaging	0.55
R4918:Ifi206	UTSW	1	173482044	missense	possibly damaging	0.73
R5080:Ifi206	UTSW	1	173473848	missense	possibly damaging	0.61
R5419:Ifi206	UTSW	1	173481231	missense	probably benign	0.05
R5420:Ifi206	UTSW	1	173481033	missense	possibly damaging	0.84
R5777:Ifi206	UTSW	1	173481362	missense	possibly damaging	0.55
R5988:Ifi206	UTSW	1	173481340	missense	possibly damaging	0.90
R6772:Ifi206	UTSW	1	173481207	missense	unknown
R6782:Ifi206	UTSW	1	173481357	missense	unknown
R6806:Ifi206	UTSW	1	173481571	missense	probably benign	0.06
R7042:Ifi206	UTSW	1	173481242	missense
R7091:Ifi206	UTSW	1	173473875	missense	unknown
R7292:Ifi206	UTSW	1	173473862	missense	unknown
R7429:Ifi206	UTSW	1	173480591	missense
R7499:Ifi206	UTSW	1	173482041	missense
R7772:Ifi206	UTSW	1	173481074	missense
R7853:Ifi206	UTSW	1	173471534	nonsense	probably null
R7971:Ifi206	UTSW	1	173471410	missense	unknown
R8079:Ifi206	UTSW	1	173481158	missense
R8390:Ifi206	UTSW	1	173480945	missense
R8500:Ifi206	UTSW	1	173486745	missense
R8712:Ifi206	UTSW	1	173480508	missense
R8753:Ifi206	UTSW	1	173473657	missense	unknown
R8875:Ifi206	UTSW	1	173473787	missense	unknown
R9128:Ifi206	UTSW	1	173471456	missense	unknown
R9369:Ifi206	UTSW	1	173473923	missense	unknown
R9569:Ifi206	UTSW	1	173486643	missense
R9676:Ifi206	UTSW	1	173481152	missense
R9695:Ifi206	UTSW	1	173473683	missense	unknown
R9776:Ifi206	UTSW	1	173480509	missense
X0052:Ifi206	UTSW	1	173481969	missense	possibly damaging	0.89
Z1088:Ifi206	UTSW	1	173474011	missense	probably damaging	1.00
Z1176:Ifi206	UTSW	1	173482048	missense

Predicted Primers

PCR Primer
(F):5'- AGCTGGCAAGTTTAGGGATG -3'
(R):5'- GCTGTTTGCTACCTAGATATGCTC -3'

Sequencing Primer
(F):5'- CTGGCAAGTTTAGGGATGGTAGAG -3'
(R):5'- AATGGTCTCTTATGTGTGTAATTCAG -3'

Posted On

2016-06-15