Mutagenetix > Incidental Mutations

Incidental Mutation 'R5472:Ifi213'

433846

Institutional Source

Beutler Lab

Gene Symbol

Ifi213

Ensembl Gene

ENSMUSG00000073491

Gene Name

interferon activated gene 213

Synonyms

E030037K03Rik, Pydc4, Pyr-A

MMRRC Submission

043033-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173566283-173599274 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 173567272 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000150649] [ENSMUST00000150649]

Predicted Effect

probably null
Transcript: ENSMUST00000150649

SMART Domains

Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491

Domain	Start	End	E-Value	Type
PYRIN	10	88	3.71e-20	SMART
low complexity region	101	112	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000150649

SMART Domains

Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491

Domain	Start	End	E-Value	Type
PYRIN	10	88	3.71e-20	SMART
low complexity region	101	112	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179648

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,513,429	N506S	probably benign	Het
BC067074	A	G	13: 113,319,169	D583G	probably benign	Het
Brinp3	A	T	1: 146,901,459	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,638,446	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,155,471	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,098,048	T76K	probably benign	Het
Col16a1	T	C	4: 130,092,771		probably benign	Het
Cxcr4	C	A	1: 128,589,625	A100S	probably damaging	Het
Fancl	G	T	11: 26,469,677	C305F	probably damaging	Het
Gcnt2	T	C	13: 40,953,579	V308A	probably benign	Het
Gm11733	A	T	11: 117,484,496	I24L	unknown	Het
Gm765	A	T	6: 98,238,276	C129S	probably damaging	Het
Gm973	A	G	1: 59,628,287		probably null	Het
Gm996	T	C	2: 25,579,702	T66A	probably benign	Het
Heatr5b	A	T	17: 78,801,660	F1057I	probably damaging	Het
Ighv1-20	A	T	12: 114,723,851	V91E	probably damaging	Het
Inhba	A	G	13: 16,026,786	E311G	probably damaging	Het
Irx3	G	T	8: 91,799,480		probably null	Het
Jag1	C	A	2: 137,084,995	C948F	probably damaging	Het
Kcna2	T	C	3: 107,105,309	I402T	possibly damaging	Het
Kcnh8	A	T	17: 52,977,816	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,945,858		probably null	Het
Macf1	T	C	4: 123,450,061	T2123A	probably benign	Het
Mdh1	A	T	11: 21,559,786	N196K	probably benign	Het
Msh6	G	A	17: 87,984,561	R248Q	possibly damaging	Het
Odf2l	G	T	3: 145,146,866	R457L	probably benign	Het
Olfr822	A	T	10: 130,075,029	L206F	probably damaging	Het
Pphln1	T	C	15: 93,488,975	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,240,112	T267I	probably damaging	Het
Pramef20	T	C	4: 144,377,157	D133G	probably benign	Het
Prpf8	A	C	11: 75,503,643	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,626,706		probably null	Het
Rasal3	C	A	17: 32,396,669	L374F	probably damaging	Het
S1pr3	T	A	13: 51,419,647	V288D	probably damaging	Het
Setd7	G	A	3: 51,521,465	P315S	probably benign	Het
Slx4	C	T	16: 3,991,540	A364T	probably benign	Het
Sp7	G	A	15: 102,359,314	T19I	probably benign	Het
Tlr9	T	A	9: 106,224,313	C268S	probably damaging	Het
Tmem117	T	A	15: 95,094,513	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,428,044	D211V	possibly damaging	Het
Tns3	A	G	11: 8,451,092	S1069P	probably benign	Het
Tsnax	A	G	8: 125,015,762	I77V	probably benign	Het
Txndc5	G	A	13: 38,513,125	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,777,241	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,487,944		probably null	Het
Vwde	A	T	6: 13,193,118	D407E	probably benign	Het
Wdr35	T	A	12: 9,016,619	M749K	probably benign	Het
Zfp109	A	T	7: 24,228,621	C462*	probably null	Het

Other mutations in Ifi213

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Ifi213	APN	1	173594053	splice site	probably benign
IGL00908:Ifi213	APN	1	173595083	missense	probably damaging	1.00
IGL00964:Ifi213	APN	1	173593952	missense	possibly damaging	0.91
IGL02217:Ifi213	APN	1	173595032	missense	possibly damaging	0.91
R0709:Ifi213	UTSW	1	173589800	missense	possibly damaging	0.70
R1518:Ifi213	UTSW	1	173589663	missense	probably damaging	0.99
R1559:Ifi213	UTSW	1	173567218	missense	probably benign	0.18
R1822:Ifi213	UTSW	1	173589842	missense	probably damaging	0.99
R1839:Ifi213	UTSW	1	173589600	missense	probably damaging	0.98
R1989:Ifi213	UTSW	1	173568808	critical splice donor site	probably null
R2108:Ifi213	UTSW	1	173569102	critical splice acceptor site	probably null
R2696:Ifi213	UTSW	1	173590024	missense	probably benign
R3890:Ifi213	UTSW	1	173567256	missense	probably benign	0.33
R4544:Ifi213	UTSW	1	173582127	splice site	probably null
R4611:Ifi213	UTSW	1	173589914	missense	possibly damaging	0.91
R4689:Ifi213	UTSW	1	173590420	missense	possibly damaging	0.92
R4710:Ifi213	UTSW	1	173567172	utr 3 prime	probably benign
R5126:Ifi213	UTSW	1	173590015	missense	possibly damaging	0.85
R5625:Ifi213	UTSW	1	173569063	missense	possibly damaging	0.73
R5789:Ifi213	UTSW	1	173568794	splice site	probably benign
R5898:Ifi213	UTSW	1	173568979	missense	probably benign	0.01
R6025:Ifi213	UTSW	1	173595234	missense	probably damaging	0.99
R6149:Ifi213	UTSW	1	173594015	missense	probably benign	0.18
R6348:Ifi213	UTSW	1	173590282	missense	possibly damaging	0.46
R6564:Ifi213	UTSW	1	173595296	start codon destroyed	probably null	0.06
R7254:Ifi213	UTSW	1	173593963	missense	probably damaging	0.98
R7292:Ifi213	UTSW	1	173595125	missense	probably damaging	0.99
R7752:Ifi213	UTSW	1	173567218	missense	probably benign	0.18
R7901:Ifi213	UTSW	1	173567218	missense	probably benign	0.18
R8100:Ifi213	UTSW	1	173595182	missense	probably damaging	1.00
R8352:Ifi213	UTSW	1	173595269	missense	possibly damaging	0.92
RF010:Ifi213	UTSW	1	173582153	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATGAAATTCCAAGCCCAGGG -3'
(R):5'- GTCATGCCATTACCTTATAATGCAA -3'

Sequencing Primer
(F):5'- ATTCATGCTACAGGGATGCC -3'
(R):5'- GCCATTACCTTATAATGCAACCATTG -3'

Posted On

2016-10-06