Mutagenetix > Incidental Mutation

Incidental Mutation 'R8326:Irf9'

644129

Institutional Source

Beutler Lab

Gene Symbol

Irf9

Ensembl Gene

ENSMUSG00000002325

Gene Name

interferon regulatory factor 9

Synonyms

p48, Isgf3g, Irf-9

MMRRC Submission

067726-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R8326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55841442-55847487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55843210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 137 (D137E)

Ref Sequence

ENSEMBL: ENSMUSP00000120525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000138037]

AlphaFold

Q61179

Predicted Effect

probably benign
Transcript: ENSMUST00000019443

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:PUB	68	148	7.1e-17	PFAM
low complexity region	262	294	N/A	INTRINSIC
ZnF_RBZ	298	322	2.56e-1	SMART
ZnF_RBZ	346	370	6.93e-5	SMART
ZnF_RBZ	405	429	4.86e-1	SMART
Pfam:HOIP-UBA	477	622	2.4e-54	PFAM
Blast:RING	693	741	7e-25	BLAST
IBR	773	835	3.18e-14	SMART
IBR	847	924	5.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130697
AA Change: D71E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: D71E

Domain	Start	End	E-Value	Type
IRF	5	117	1.19e-53	SMART
low complexity region	158	182	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
IRF-3	211	377	1.13e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134863
AA Change: D137E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: D137E

Domain	Start	End	E-Value	Type
low complexity region	34	58	N/A	INTRINSIC
IRF	71	183	1.19e-53	SMART
low complexity region	224	248	N/A	INTRINSIC
low complexity region	251	260	N/A	INTRINSIC
IRF-3	277	443	1.13e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138037
AA Change: D89E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: D89E

Domain	Start	End	E-Value	Type
IRF	23	135	1.19e-53	SMART
low complexity region	176	200	N/A	INTRINSIC
low complexity region	203	212	N/A	INTRINSIC
IRF-3	229	395	1.13e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140178

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
PDB:4OYJ\|M	2	85	1e-29	PDB
low complexity region	164	196	N/A	INTRINSIC
ZnF_RBZ	200	224	2.56e-1	SMART
ZnF_RBZ	248	272	6.93e-5	SMART
ZnF_RBZ	307	331	4.86e-1	SMART
Pfam:HOIP-UBA	369	468	1.1e-31	PFAM
Blast:RING	539	587	9e-25	BLAST
IBR	619	681	3.18e-14	SMART
IBR	693	770	5.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226275

Predicted Effect

probably benign
Transcript: ENSMUST00000227708

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, antivirus response induced by Ifn alfpha and Ifn gamma are impaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,533,190 (GRCm39)	T35A		Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Akt3	T	C	1: 176,877,611 (GRCm39)	N386D	possibly damaging	Het
Aox1	A	T	1: 58,335,046 (GRCm39)	H282L	probably benign	Het
Asb7	G	T	7: 66,309,675 (GRCm39)	N180K	possibly damaging	Het
Cdh23	T	C	10: 60,274,591 (GRCm39)	S500G	possibly damaging	Het
Cubn	C	T	2: 13,311,274 (GRCm39)	E3084K	probably benign	Het
Cyp2r1	G	A	7: 114,152,405 (GRCm39)	T184I	probably damaging	Het
Dclk3	A	G	9: 111,296,602 (GRCm39)	R49G	probably damaging	Het
Dcp1a	C	T	14: 30,241,527 (GRCm39)	Q446*	probably null	Het
Dnah9	A	G	11: 66,008,452 (GRCm39)	I791T	probably benign	Het
Dock10	A	T	1: 80,583,892 (GRCm39)	V189D	possibly damaging	Het
Dsg4	A	G	18: 20,582,788 (GRCm39)	E142G	probably benign	Het
Dsp	A	T	13: 38,375,611 (GRCm39)	D1132V	probably damaging	Het
Dync2h1	A	G	9: 7,147,771 (GRCm39)	M953T	probably benign	Het
Ecpas	G	T	4: 58,847,093 (GRCm39)	Q490K	probably damaging	Het
Ero1a	T	C	14: 45,531,805 (GRCm39)	H251R	probably damaging	Het
Fer1l5	A	G	1: 36,415,841 (GRCm39)	Y124C	probably benign	Het
Frmpd2	C	A	14: 33,232,992 (GRCm39)	P404Q	probably damaging	Het
Gpr87	G	T	3: 59,102,395 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,305,319 (GRCm39)	Y1217H	unknown	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Jup	G	T	11: 100,272,571 (GRCm39)	N280K	probably benign	Het
Kcna7	T	C	7: 45,058,765 (GRCm39)	F351L	probably damaging	Het
Klk13	A	T	7: 43,376,136 (GRCm39)	R270S	probably benign	Het
Msh6	C	T	17: 88,294,340 (GRCm39)	R1032C	probably damaging	Het
Myo5a	T	C	9: 75,125,271 (GRCm39)	V1855A	probably damaging	Het
Neb	T	C	2: 52,111,714 (GRCm39)	T138A	probably damaging	Het
Nfkbie	C	A	17: 45,870,234 (GRCm39)	T193K	probably damaging	Het
Nlrp4b	A	G	7: 10,452,471 (GRCm39)	K613E	probably benign	Het
Obox6	T	C	7: 15,567,481 (GRCm39)	E322G	possibly damaging	Het
Or51ai2	A	G	7: 103,586,809 (GRCm39)	D74G	probably damaging	Het
Or5v1b	T	G	17: 37,841,470 (GRCm39)	S201A	probably benign	Het
Or8b36	T	C	9: 37,938,014 (GRCm39)	M304T	probably benign	Het
Parn	A	T	16: 13,483,835 (GRCm39)	N36K	probably benign	Het
Ppp6r2	A	G	15: 89,164,650 (GRCm39)	E618G	probably benign	Het
Prdm13	A	G	4: 21,679,557 (GRCm39)	L311P	unknown	Het
Prkaa2	T	C	4: 104,893,495 (GRCm39)	T485A	possibly damaging	Het
Prmt2	G	T	10: 76,053,247 (GRCm39)	T256K	probably benign	Het
Rspry1	T	C	8: 95,366,217 (GRCm39)	Y362H	probably damaging	Het
Slc16a14	A	T	1: 84,890,066 (GRCm39)	I413N	possibly damaging	Het
Slc8a1	T	C	17: 81,715,535 (GRCm39)	T821A	probably damaging	Het
Spock2	A	T	10: 59,962,777 (GRCm39)	K276N	probably damaging	Het
Synj1	A	T	16: 90,785,084 (GRCm39)	N257K	probably benign	Het
Taar7f	T	C	10: 23,925,811 (GRCm39)	L135P	possibly damaging	Het
Tmem132b	T	C	5: 125,864,618 (GRCm39)	F908S	probably damaging	Het
Tmem202	A	T	9: 59,426,500 (GRCm39)	V222D	probably benign	Het
Trim33	T	A	3: 103,218,770 (GRCm39)	C302*	probably null	Het
Tuba4a	G	A	1: 75,195,265 (GRCm39)	S1L		Het
Tyrp1	G	A	4: 80,768,921 (GRCm39)	E472K	probably benign	Het
V1ra8	A	G	6: 90,180,246 (GRCm39)	I150V	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,180 (GRCm39)	M686K	possibly damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Irf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Irf9	APN	14	55,845,058 (GRCm39)	missense	probably damaging	0.98
IGL02283:Irf9	APN	14	55,845,196 (GRCm39)	missense	probably damaging	1.00
IGL02317:Irf9	APN	14	55,845,196 (GRCm39)	missense	probably damaging	1.00
IGL02407:Irf9	APN	14	55,842,678 (GRCm39)	missense	possibly damaging	0.92
Adjunctive	UTSW	14	55,843,255 (GRCm39)	nonsense	probably null
Long_lost	UTSW	14	55,843,367 (GRCm39)	splice site	probably null
supportive	UTSW	14	55,846,247 (GRCm39)	missense	probably damaging	1.00
R0233:Irf9	UTSW	14	55,843,551 (GRCm39)	missense	probably benign	0.00
R0233:Irf9	UTSW	14	55,843,551 (GRCm39)	missense	probably benign	0.00
R1959:Irf9	UTSW	14	55,845,174 (GRCm39)	missense	possibly damaging	0.93
R2324:Irf9	UTSW	14	55,843,367 (GRCm39)	splice site	probably null
R4669:Irf9	UTSW	14	55,843,223 (GRCm39)	missense	probably benign
R4882:Irf9	UTSW	14	55,846,496 (GRCm39)	utr 3 prime	probably benign
R5393:Irf9	UTSW	14	55,843,914 (GRCm39)	unclassified	probably benign
R6072:Irf9	UTSW	14	55,843,284 (GRCm39)	missense	probably damaging	1.00
R6277:Irf9	UTSW	14	55,845,109 (GRCm39)	missense	probably benign	0.04
R6337:Irf9	UTSW	14	55,843,799 (GRCm39)	missense	possibly damaging	0.62
R6545:Irf9	UTSW	14	55,842,684 (GRCm39)	missense	probably damaging	1.00
R6993:Irf9	UTSW	14	55,846,414 (GRCm39)	missense	probably benign	0.06
R7956:Irf9	UTSW	14	55,846,481 (GRCm39)	missense	probably benign	0.00
R8145:Irf9	UTSW	14	55,843,255 (GRCm39)	nonsense	probably null
R9002:Irf9	UTSW	14	55,845,140 (GRCm39)	missense	possibly damaging	0.79
R9293:Irf9	UTSW	14	55,846,247 (GRCm39)	missense	probably damaging	1.00
R9672:Irf9	UTSW	14	55,842,129 (GRCm39)	missense	probably benign	0.05
R9747:Irf9	UTSW	14	55,844,045 (GRCm39)	missense	probably benign	0.00
RF014:Irf9	UTSW	14	55,843,334 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGACTAAGGATTTCAAACCCGC -3'
(R):5'- AGAGGGAGGGCTCTTATCTC -3'

Sequencing Primer
(F):5'- GGATTTCAAACCCGCAATAACAG -3'
(R):5'- AGAGGGAGGGCTCTTATCTCTATCC -3'

Posted On

2020-09-02