Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01060:Ern2'

51412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum (ER) to nucleus signalling 2

Synonyms

Ire1b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

122169893-122186207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122170092 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 904 (R904W)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [ENSMUST00000206198]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033153
AA Change: R904W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: R904W

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
PQQ	33	64	5.5e-8	SMART
PQQ	115	147	4.7e-4	SMART
PQQ	148	180	6.1e-2	SMART
PQQ	192	223	6.2e-3	SMART
low complexity region	449	461	N/A	INTRINSIC
S_TKc	508	768	2.5e-11	SMART
PUG	831	888	9e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000033154

SMART Domains

Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	20	35	N/A	INTRINSIC
S_TKc	53	305	7.36e-95	SMART
low complexity region	354	365	N/A	INTRINSIC
Pfam:POLO_box	418	479	4.4e-24	PFAM
Pfam:POLO_box	516	583	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206202

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Anks4b	A	G	7: 120,173,925	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,340,121	S209T	probably benign	Het
Ccdc78	A	G	17: 25,788,832	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,980,274	N1362K	probably benign	Het
Dnah2	T	C	11: 69,478,092	N1662S	possibly damaging	Het
Fam120c	C	T	X: 151,469,587	P1045S	probably benign	Het
Gm12887	C	T	4: 121,616,413		probably benign	Het
Gpld1	G	A	13: 24,982,566	G627S	probably damaging	Het
Ikbkap	C	T	4: 56,784,537		probably null	Het
Krt77	T	A	15: 101,860,880		probably benign	Het
Ltf	A	T	9: 111,022,882		probably null	Het
Map3k6	G	T	4: 133,247,302		probably null	Het
Nsd1	G	A	13: 55,263,429	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,642,645		probably null	Het
Popdc2	T	A	16: 38,373,965	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,907,571	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,860,870	S320T	probably damaging	Het
Rsph6a	C	T	7: 19,054,868	R42*	probably null	Het
Sap130	T	C	18: 31,715,443	L967P	probably damaging	Het
Smyd2	T	C	1: 189,897,470	E121G	possibly damaging	Het
Sspo	G	A	6: 48,449,479	W144*	probably null	Het
Taar6	A	G	10: 23,985,072	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,185,828	V114E	probably damaging	Het
Trim16	T	C	11: 62,820,704	I67T	probably benign	Het
Ttll7	A	G	3: 146,909,582	D267G	possibly damaging	Het
Ttn	T	C	2: 76,889,729		probably benign	Het
Vmn2r56	T	A	7: 12,713,089	I379F	probably damaging	Het
Zfp14	T	C	7: 30,038,085	T492A	probably damaging	Het

Other mutations in Ern2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Ern2	APN	7	122183190	missense	possibly damaging	0.88
IGL02185:Ern2	APN	7	122173375	splice site	probably benign
IGL02738:Ern2	APN	7	122182899	missense	probably damaging	0.99
IGL02750:Ern2	APN	7	122181406	splice site	probably benign
IGL03247:Ern2	APN	7	122171671	missense	probably benign	0.02
ernie	UTSW	7	122171661	critical splice donor site	probably null
Ernie2	UTSW	7	122180862	splice site	probably benign
ernie3	UTSW	7	122173819	critical splice acceptor site	probably null
R0165:Ern2	UTSW	7	122179779	missense	probably benign	0.02
R0785:Ern2	UTSW	7	122171661	critical splice donor site	probably null
R0801:Ern2	UTSW	7	122180862	splice site	probably benign
R1345:Ern2	UTSW	7	122177770	missense	probably damaging	1.00
R1649:Ern2	UTSW	7	122177400	missense	probably damaging	1.00
R1747:Ern2	UTSW	7	122173819	critical splice acceptor site	probably null
R1747:Ern2	UTSW	7	122173820	critical splice acceptor site	probably null
R1846:Ern2	UTSW	7	122176536	missense	probably benign	0.32
R1899:Ern2	UTSW	7	122183842	splice site	probably benign
R1986:Ern2	UTSW	7	122171529	missense	probably benign	0.06
R2055:Ern2	UTSW	7	122183945	missense	possibly damaging	0.84
R2329:Ern2	UTSW	7	122173487	missense	possibly damaging	0.82
R2351:Ern2	UTSW	7	122171508	missense	probably damaging	0.97
R2894:Ern2	UTSW	7	122181587	missense	possibly damaging	0.94
R3176:Ern2	UTSW	7	122180964	missense	possibly damaging	0.89
R3276:Ern2	UTSW	7	122180964	missense	possibly damaging	0.89
R3945:Ern2	UTSW	7	122176530	missense	probably benign	0.10
R4303:Ern2	UTSW	7	122177846	critical splice acceptor site	probably null
R4874:Ern2	UTSW	7	122176587	missense	probably benign	0.28
R4943:Ern2	UTSW	7	122173258	missense	possibly damaging	0.95
R5184:Ern2	UTSW	7	122179959	missense	probably benign	0.03
R5629:Ern2	UTSW	7	122170166	missense	probably damaging	1.00
R5770:Ern2	UTSW	7	122179907	missense	possibly damaging	0.92
R6255:Ern2	UTSW	7	122173272	missense	probably damaging	1.00
R6272:Ern2	UTSW	7	122176646	missense	probably benign	0.05
R6277:Ern2	UTSW	7	122186107	missense	probably benign
R6624:Ern2	UTSW	7	122177783	missense	probably benign	0.00
R6940:Ern2	UTSW	7	122186146	missense	probably benign	0.01
R7491:Ern2	UTSW	7	122170533	missense	probably damaging	1.00
R7544:Ern2	UTSW	7	122173199	missense	probably benign	0.06
R7555:Ern2	UTSW	7	122170241	missense	probably damaging	1.00
R7843:Ern2	UTSW	7	122173708	missense	probably damaging	1.00
R8281:Ern2	UTSW	7	122170260	missense	probably damaging	1.00
R8321:Ern2	UTSW	7	122173208	missense	probably damaging	1.00
R8377:Ern2	UTSW	7	122181292	nonsense	probably null

Posted On

2013-06-21