Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Ifi213'

62638

Institutional Source

Beutler Lab

Gene Symbol

Ifi213

Ensembl Gene

ENSMUSG00000073491

Gene Name

interferon activated gene 213

Synonyms

E030037K03Rik, Pydc4, Pyr-A

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0709 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

173566283-173599274 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 173589800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 349 (V349I)

Ref Sequence

ENSEMBL: ENSMUSP00000117222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097462] [ENSMUST00000150649] [ENSMUST00000180215]

AlphaFold

D3Z5G0

Predicted Effect

probably benign
Transcript: ENSMUST00000097462

SMART Domains

Protein: ENSMUSP00000095070
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

possibly damaging
Transcript: ENSMUST00000150649
AA Change: V349I

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117222
Gene: ENSMUSG00000073491
AA Change: V349I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180215

SMART Domains

Protein: ENSMUSP00000136238
Gene: ENSMUSG00000073491

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	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
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
R5472:Ifi213	UTSW	1	173567272	splice site	probably null
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
R8425:Ifi213	UTSW	1	173589860	missense	probably benign
R8452:Ifi213	UTSW	1	173595269	missense	possibly damaging	0.92
R9357:Ifi213	UTSW	1	173568826	missense	probably benign	0.01
RF010:Ifi213	UTSW	1	173582153	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACACCTGAGGACTATTACAGCCGTG -3'
(R):5'- ACAGCAGCAGTATCCAGCAGTTTC -3'

Sequencing Primer
(F):5'- TGGAGTCACCCAAGGGTTAT -3'
(R):5'- CCTCAGCAAGGTTACTCAGTG -3'

Posted On

2013-07-30