Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Irf9'

685057

Institutional Source

Beutler Lab

Gene Symbol

Irf9

Ensembl Gene

ENSMUSG00000002325

Gene Name

interferon regulatory factor 9

Synonyms

p48, Isgf3g, Irf-9

Accession Numbers

Essential gene?

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

Stock #

R9002 (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 55845140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 333 (N333K)

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

possibly damaging
Transcript: ENSMUST00000130697
AA Change: N267K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325
AA Change: N267K

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

possibly damaging
Transcript: ENSMUST00000134863
AA Change: N333K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325
AA Change: N333K

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

possibly damaging
Transcript: ENSMUST00000138037
AA Change: N285K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
AA Change: N285K

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	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
R8326:Irf9	UTSW	14	55,843,210 (GRCm39)	missense	probably benign	0.02
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'- TACAGCTGTGCTTTTCTGGC -3'
(R):5'- AAAGGTAGGTGCTACAGTGCC -3'

Sequencing Primer
(F):5'- TGGCCCTAGACTACTCGCTG -3'
(R):5'- CACCCTTACCTCTACAGAAGTAGGTG -3'

Posted On

2021-10-11