Mutagenetix > Incidental Mutation

Incidental Mutation 'R7994:Ilrun'

651956

Institutional Source

Beutler Lab

Gene Symbol

Ilrun

Ensembl Gene

ENSMUSG00000056692

Gene Name

inflammation and lipid regulator with UBA-like and NBR1-like domains

Synonyms

D17Wsu92e

MMRRC Submission

046035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27751232-27820558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27767943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 270 (A270S)

Ref Sequence

ENSEMBL: ENSMUSP00000074585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]

AlphaFold

Q3TT38

Predicted Effect

probably benign
Transcript: ENSMUST00000075076
AA Change: A270S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: A270S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	68	1.6e-13	PFAM
Pfam:N_BRCA1_IG	80	179	1.6e-37	PFAM
low complexity region	257	276	N/A	INTRINSIC
low complexity region	282	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114859

SMART Domains

Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	5.1e-15	PFAM
PDB:4OLE\|D	74	180	2e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114863
AA Change: A270S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: A270S

Domain	Start	End	E-Value	Type
Pfam:UBA_4	25	69	2.2e-14	PFAM
PDB:4OLE\|D	74	180	8e-9	PDB
low complexity region	257	276	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	C	5: 124,082,027 (GRCm38)	F318L	probably benign	Het
Adad1	T	C	3: 37,091,971 (GRCm38)	I496T	possibly damaging	Het
Amotl1	T	A	9: 14,593,361 (GRCm38)	N184Y	probably damaging	Het
Asz1	T	C	6: 18,054,641 (GRCm38)	I388V	probably benign	Het
Brpf1	C	G	6: 113,315,041 (GRCm38)	H349Q	probably damaging	Het
Cebpz	T	C	17: 78,934,599 (GRCm38)	D542G	probably damaging	Het
Cfap44	T	C	16: 44,432,138 (GRCm38)	V870A	probably damaging	Het
Cnga1	T	A	5: 72,604,660 (GRCm38)	I504F	probably damaging	Het
Col4a3	G	A	1: 82,662,906 (GRCm38)	G315D	unknown	Het
Commd10	A	G	18: 46,958,919 (GRCm38)	E11G	possibly damaging	Het
Coq9	A	C	8: 94,853,157 (GRCm38)	N247H	probably benign	Het
Cort	A	T	4: 149,125,305 (GRCm38)	C97S	probably damaging	Het
Dclre1b	T	C	3: 103,803,386 (GRCm38)	D403G	probably damaging	Het
Efcab8	G	A	2: 153,783,804 (GRCm38)	G128E		Het
Ercc5	T	C	1: 44,178,334 (GRCm38)	S946P	possibly damaging	Het
Fam221b	C	T	4: 43,665,514 (GRCm38)	V315M	probably damaging	Het
Fam3c	T	C	6: 22,308,460 (GRCm38)	K245E	probably damaging	Het
Gabbr2	C	T	4: 46,736,349 (GRCm38)		probably null	Het
Gadd45g	T	C	13: 51,847,767 (GRCm38)	S123P	possibly damaging	Het
Gm49368	A	G	7: 128,085,646 (GRCm38)	D396G	possibly damaging	Het
Gsto1	G	A	19: 47,859,460 (GRCm38)	R132K	probably benign	Het
Gtf3c2	T	C	5: 31,169,873 (GRCm38)	I327V	possibly damaging	Het
Hipk2	T	C	6: 38,818,468 (GRCm38)	K289E	possibly damaging	Het
Igkv4-80	G	T	6: 69,016,637 (GRCm38)	T90N	probably benign	Het
Madcam1	A	T	10: 79,668,235 (GRCm38)		probably null	Het
Mgat1	T	C	11: 49,261,943 (GRCm38)	Y418H	probably damaging	Het
Myh10	T	C	11: 68,790,244 (GRCm38)		probably null	Het
Notch4	C	A	17: 34,578,090 (GRCm38)	H937Q	possibly damaging	Het
Npas2	G	T	1: 39,328,337 (GRCm38)	C313F	possibly damaging	Het
Nup93	A	G	8: 94,306,302 (GRCm38)	M565V	probably benign	Het
Or10al3	C	T	17: 37,701,435 (GRCm38)	T255I	probably damaging	Het
Or1x6	T	G	11: 51,048,140 (GRCm38)	V11G	probably benign	Het
Or52a5	T	A	7: 103,777,400 (GRCm38)	H315L	probably benign	Het
Or56b2j	T	A	7: 104,704,428 (GRCm38)	V287D	probably damaging	Het
Or6k4	G	T	1: 174,136,707 (GRCm38)		probably benign	Het
Otop1	C	T	5: 38,299,851 (GRCm38)	T318I	probably benign	Het
Pcdhgb6	A	G	18: 37,742,671 (GRCm38)	E144G	probably damaging	Het
Plekha8	T	C	6: 54,615,245 (GRCm38)	L18P	probably damaging	Het
Ppp1r13b	T	C	12: 111,832,342 (GRCm38)	D939G	probably damaging	Het
Prkag3	T	A	1: 74,747,255 (GRCm38)	Q177L	probably benign	Het
Rcor3	C	A	1: 192,101,645 (GRCm38)	S431I	probably damaging	Het
Scrib	G	A	15: 76,064,582 (GRCm38)	T475I	probably damaging	Het
Serpinb1a	T	A	13: 32,843,050 (GRCm38)	D303V	probably damaging	Het
Snrnp25	T	A	11: 32,207,569 (GRCm38)	V49E	probably benign	Het
Sobp	A	T	10: 43,021,167 (GRCm38)	Y807*	probably null	Het
Spata31e4	T	A	13: 50,702,864 (GRCm38)	V846D	probably benign	Het
Srcap	T	C	7: 127,541,758 (GRCm38)	V1570A	probably benign	Het
Srcin1	C	T	11: 97,531,916 (GRCm38)	V731M	probably damaging	Het
Syt2	A	T	1: 134,747,592 (GRCm38)	M394L	possibly damaging	Het
Tafa4	C	T	6: 96,863,886 (GRCm38)	E49K	probably damaging	Het
Tert	T	A	13: 73,648,955 (GRCm38)	I1104N	probably benign	Het
Ttn	T	C	2: 76,791,095 (GRCm38)	Y15667C	probably damaging	Het
Twnk	A	G	19: 45,007,838 (GRCm38)	T237A	probably benign	Het
Zfp157	T	A	5: 138,455,188 (GRCm38)		probably null	Het
Zfp503	C	A	14: 21,985,006 (GRCm38)	S614I	probably damaging	Het
Zswim8	T	A	14: 20,708,004 (GRCm38)	N52K	possibly damaging	Het

Other mutations in Ilrun

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Ilrun	APN	17	27,767,919 (GRCm38)	missense	probably damaging	1.00
IGL01107:Ilrun	APN	17	27,786,069 (GRCm38)	critical splice donor site	probably null
IGL01805:Ilrun	APN	17	27,767,906 (GRCm38)	splice site	probably benign
detroit	UTSW	17	27,794,070 (GRCm38)	splice site	probably null
michigander	UTSW	17	27,767,986 (GRCm38)	missense	probably benign	0.12
R0423:Ilrun	UTSW	17	27,786,233 (GRCm38)	missense	probably damaging	1.00
R0833:Ilrun	UTSW	17	27,786,138 (GRCm38)	missense	probably damaging	1.00
R0836:Ilrun	UTSW	17	27,786,138 (GRCm38)	missense	probably damaging	1.00
R1055:Ilrun	UTSW	17	27,767,936 (GRCm38)	missense	probably damaging	1.00
R1251:Ilrun	UTSW	17	27,786,070 (GRCm38)	critical splice donor site	probably null
R1646:Ilrun	UTSW	17	27,793,960 (GRCm38)	missense	probably damaging	1.00
R4022:Ilrun	UTSW	17	27,786,262 (GRCm38)	missense	probably damaging	0.97
R4604:Ilrun	UTSW	17	27,820,315 (GRCm38)	missense	probably damaging	1.00
R5360:Ilrun	UTSW	17	27,794,046 (GRCm38)	missense	probably damaging	1.00
R6210:Ilrun	UTSW	17	27,767,986 (GRCm38)	missense	probably benign	0.12
R7201:Ilrun	UTSW	17	27,794,070 (GRCm38)	splice site	probably null
R8057:Ilrun	UTSW	17	27,767,889 (GRCm38)	missense	unknown
R8767:Ilrun	UTSW	17	27,768,069 (GRCm38)	missense	probably benign	0.01
R9269:Ilrun	UTSW	17	27,786,075 (GRCm38)	nonsense	probably null
R9629:Ilrun	UTSW	17	27,793,939 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGACGGCTGACTCATGGTG -3'
(R):5'- AGCAGCTGTCATCTTTTGAAACG -3'

Sequencing Primer
(F):5'- ACGGCTGACTCATGGTGACTAC -3'
(R):5'- GGAAACTTCAACCCGTTTGC -3'

Posted On

2020-09-15