Mutagenetix > Incidental Mutation

Incidental Mutation 'R8753:Ifi206'

663952

Institutional Source

Beutler Lab

Gene Symbol

Ifi206

Ensembl Gene

ENSMUSG00000037849

Gene Name

interferon activated gene 206

Synonyms

Pyblhin-C, Gm4955

MMRRC Submission

068619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R8753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173296051-173318607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173301223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 818 (N818K)

Ref Sequence

ENSEMBL: ENSMUSP00000134646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160565] [ENSMUST00000169797]

AlphaFold

G3UZV2

Predicted Effect

unknown
Transcript: ENSMUST00000160565
AA Change: N818K

SMART Domains

Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849
AA Change: N818K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169797
AA Change: N90K

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

SMART Domains

Protein: ENSMUSP00000133809
Gene: ENSMUSG00000037849
AA Change: N90K

Domain	Start	End	E-Value	Type
Pfam:HIN	1	142	8.8e-66	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,332,706 (GRCm39)	Y1496H	probably damaging	Het
Acan	G	A	7: 78,748,516 (GRCm39)	E1096K	possibly damaging	Het
Adprhl1	T	C	8: 13,272,118 (GRCm39)	K1547E	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Arf4	T	A	14: 26,374,114 (GRCm39)		probably benign	Het
Boc	A	T	16: 44,320,775 (GRCm39)	M295K		Het
C2cd3	T	A	7: 100,049,024 (GRCm39)		probably null	Het
Calcrl	C	G	2: 84,178,659 (GRCm39)	G223A	probably benign	Het
Calcrl	C	A	2: 84,178,661 (GRCm39)	M222I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccz1	A	G	5: 143,925,050 (GRCm39)	C469R	probably benign	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Clpx	G	A	9: 65,223,958 (GRCm39)	G251S	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,498,391 (GRCm39)	M408K	probably damaging	Het
Crybb3	A	G	5: 113,226,247 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,313,377 (GRCm39)	C3064*	probably null	Het
Cxcl3	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTG	5: 90,934,071 (GRCm39)		probably benign	Het
Cyp4a31	A	T	4: 115,432,158 (GRCm39)	S432C	probably benign	Het
Ddias	A	T	7: 92,508,668 (GRCm39)	F416I	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnttip2	A	G	3: 122,074,398 (GRCm39)	T612A	probably damaging	Het
Fnip1	A	G	11: 54,400,867 (GRCm39)	T1089A	probably damaging	Het
Gm12117	A	T	11: 33,225,953 (GRCm39)	L128M	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Ibtk	T	C	9: 85,610,819 (GRCm39)	T285A	probably benign	Het
Itga10	T	G	3: 96,558,471 (GRCm39)	L305R	probably damaging	Het
Khnyn	T	C	14: 56,125,223 (GRCm39)	Y461H	possibly damaging	Het
Macroh2a2	T	C	10: 61,585,113 (GRCm39)	D177G	possibly damaging	Het
Mbtps1	T	C	8: 120,235,601 (GRCm39)	S1026G	possibly damaging	Het
Msantd4	A	G	9: 4,385,013 (GRCm39)	E246G	probably damaging	Het
N4bp1	T	C	8: 87,575,085 (GRCm39)	I737V	probably damaging	Het
Nav2	T	G	7: 49,102,320 (GRCm39)	S373A	probably benign	Het
Nbea	T	C	3: 55,534,329 (GRCm39)	Y2936C	probably damaging	Het
Nbeal1	A	T	1: 60,307,542 (GRCm39)	I1685F	probably damaging	Het
Nt5c3	C	G	6: 56,860,677 (GRCm39)	G293R	probably damaging	Het
Or4f14c	A	T	2: 111,940,802 (GRCm39)	V265E	probably benign	Het
Or52z1	T	A	7: 103,436,567 (GRCm39)	I306F	probably benign	Het
Pcnx2	A	T	8: 126,613,999 (GRCm39)	V484E	probably benign	Het
Pcsk5	C	T	19: 17,446,408 (GRCm39)	R1195Q	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pitpnm3	A	G	11: 71,942,704 (GRCm39)	V861A	probably benign	Het
Pkd1	A	G	17: 24,793,176 (GRCm39)	Y1621C	probably damaging	Het
Polr3a	C	A	14: 24,513,702 (GRCm39)	E846*	probably null	Het
Polr3e	T	C	7: 120,539,540 (GRCm39)	V455A	possibly damaging	Het
Prr5l	C	T	2: 101,571,723 (GRCm39)	G118D	probably damaging	Het
Pygl	G	T	12: 70,242,400 (GRCm39)	N685K	probably damaging	Het
Rfx8	A	G	1: 39,757,600 (GRCm39)	V56A	probably damaging	Het
Sbf1	T	C	15: 89,179,662 (GRCm39)	D1341G	probably benign	Het
Selenon	T	C	4: 134,275,330 (GRCm39)	T123A	probably benign	Het
Slc23a1	T	G	18: 35,752,631 (GRCm39)	K549Q	probably benign	Het
Slc7a13	T	C	4: 19,841,443 (GRCm39)	F430S	probably damaging	Het
Smarcc2	G	A	10: 128,319,070 (GRCm39)	V707M	probably damaging	Het
St18	A	G	1: 6,916,015 (GRCm39)	S887G	probably damaging	Het
T2	T	C	17: 8,615,477 (GRCm39)		probably benign	Het
Tbc1d16	A	G	11: 119,101,492 (GRCm39)	L6P	probably damaging	Het
Tcf7l2	T	C	19: 55,920,195 (GRCm39)	L576P	possibly damaging	Het
Tnr	A	G	1: 159,677,936 (GRCm39)	D107G	probably benign	Het
Trpv1	G	T	11: 73,135,082 (GRCm39)	K426N	probably damaging	Het
Vmn1r15	A	T	6: 57,235,895 (GRCm39)	L254F	probably benign	Het
Vmn1r219	A	T	13: 23,347,191 (GRCm39)	I127F	probably damaging	Het
Zc3h14	A	T	12: 98,724,831 (GRCm39)	E164D	probably benign	Het

Other mutations in Ifi206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Ifi206	APN	1	173,313,142 (GRCm39)	missense	probably benign	0.00
IGL02044:Ifi206	APN	1	173,308,557 (GRCm39)	missense	probably benign	0.41
IGL02118:Ifi206	APN	1	173,309,334 (GRCm39)	missense	probably benign	0.05
IGL02476:Ifi206	APN	1	173,309,132 (GRCm39)	missense	probably benign	0.02
IGL02824:Ifi206	APN	1	173,309,438 (GRCm39)	missense	possibly damaging	0.95
IGL03375:Ifi206	APN	1	173,308,344 (GRCm39)	missense	probably benign	0.06
PIT4142001:Ifi206	UTSW	1	173,308,730 (GRCm39)	missense	probably benign	0.02
R0069:Ifi206	UTSW	1	173,314,413 (GRCm39)	missense	probably damaging	1.00
R0741:Ifi206	UTSW	1	173,301,315 (GRCm39)	missense	probably benign	0.41
R1572:Ifi206	UTSW	1	173,314,419 (GRCm39)	missense	probably benign	0.10
R1742:Ifi206	UTSW	1	173,309,537 (GRCm39)	missense	probably benign	0.06
R4109:Ifi206	UTSW	1	173,308,554 (GRCm39)	missense	probably benign	0.00
R4707:Ifi206	UTSW	1	173,308,432 (GRCm39)	missense	probably benign	0.00
R4783:Ifi206	UTSW	1	173,308,432 (GRCm39)	missense	probably benign	0.00
R4785:Ifi206	UTSW	1	173,308,432 (GRCm39)	missense	probably benign	0.00
R4805:Ifi206	UTSW	1	173,308,952 (GRCm39)	missense	possibly damaging	0.55
R4918:Ifi206	UTSW	1	173,309,610 (GRCm39)	missense	possibly damaging	0.73
R5043:Ifi206	UTSW	1	173,314,284 (GRCm39)	missense	probably damaging	1.00
R5080:Ifi206	UTSW	1	173,301,414 (GRCm39)	missense	possibly damaging	0.61
R5419:Ifi206	UTSW	1	173,308,797 (GRCm39)	missense	probably benign	0.05
R5420:Ifi206	UTSW	1	173,308,599 (GRCm39)	missense	possibly damaging	0.84
R5777:Ifi206	UTSW	1	173,308,928 (GRCm39)	missense	possibly damaging	0.55
R5988:Ifi206	UTSW	1	173,308,906 (GRCm39)	missense	possibly damaging	0.90
R6772:Ifi206	UTSW	1	173,308,773 (GRCm39)	missense	unknown
R6782:Ifi206	UTSW	1	173,308,923 (GRCm39)	missense	unknown
R6806:Ifi206	UTSW	1	173,309,137 (GRCm39)	missense	probably benign	0.06
R7042:Ifi206	UTSW	1	173,308,808 (GRCm39)	missense
R7091:Ifi206	UTSW	1	173,301,441 (GRCm39)	missense	unknown
R7292:Ifi206	UTSW	1	173,301,428 (GRCm39)	missense	unknown
R7429:Ifi206	UTSW	1	173,308,157 (GRCm39)	missense
R7499:Ifi206	UTSW	1	173,309,607 (GRCm39)	missense
R7772:Ifi206	UTSW	1	173,308,640 (GRCm39)	missense
R7853:Ifi206	UTSW	1	173,299,100 (GRCm39)	nonsense	probably null
R7971:Ifi206	UTSW	1	173,298,976 (GRCm39)	missense	unknown
R8079:Ifi206	UTSW	1	173,308,724 (GRCm39)	missense
R8205:Ifi206	UTSW	1	173,309,450 (GRCm39)	missense
R8289:Ifi206	UTSW	1	173,308,032 (GRCm39)	missense
R8390:Ifi206	UTSW	1	173,308,511 (GRCm39)	missense
R8500:Ifi206	UTSW	1	173,314,311 (GRCm39)	missense
R8712:Ifi206	UTSW	1	173,308,074 (GRCm39)	missense
R8875:Ifi206	UTSW	1	173,301,353 (GRCm39)	missense	unknown
R9128:Ifi206	UTSW	1	173,299,022 (GRCm39)	missense	unknown
R9369:Ifi206	UTSW	1	173,301,489 (GRCm39)	missense	unknown
R9569:Ifi206	UTSW	1	173,314,209 (GRCm39)	missense
R9676:Ifi206	UTSW	1	173,308,718 (GRCm39)	missense
R9695:Ifi206	UTSW	1	173,301,249 (GRCm39)	missense	unknown
R9776:Ifi206	UTSW	1	173,308,075 (GRCm39)	missense
X0052:Ifi206	UTSW	1	173,309,535 (GRCm39)	missense	possibly damaging	0.89
Z1088:Ifi206	UTSW	1	173,301,577 (GRCm39)	missense	probably damaging	1.00
Z1176:Ifi206	UTSW	1	173,309,614 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCATTCCACACCTTAAAATGGG -3'
(R):5'- GTTTGACATAGCCCTCGAGG -3'

Sequencing Primer
(F):5'- AATGGGAAACTCCACTTTCTGTTTC -3'
(R):5'- GTTCATCCCCAGGAAAGTCATTG -3'

Posted On

2021-03-08