Mutagenetix > Incidental Mutation

Incidental Mutation 'R4469:Ier3ip1'

329348

Institutional Source

Beutler Lab

Gene Symbol

Ier3ip1

Ensembl Gene

ENSMUSG00000090000

Gene Name

immediate early response 3 interacting protein 1

Synonyms

1110057H19Rik

MMRRC Submission

041726-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77017723-77029310 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 77028294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026485] [ENSMUST00000026487] [ENSMUST00000097521] [ENSMUST00000097522] [ENSMUST00000142456] [ENSMUST00000145634] [ENSMUST00000147332] [ENSMUST00000148955] [ENSMUST00000156454] [ENSMUST00000150990] [ENSMUST00000143910]

AlphaFold

Q9CR20

Predicted Effect

probably benign
Transcript: ENSMUST00000026485

SMART Domains

Protein: ENSMUSP00000026485
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.1e-21	PFAM
Pfam:HAD_2	167	223	1e-7	PFAM
Pfam:Hydrolase_like	176	251	3.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026487

SMART Domains

Protein: ENSMUSP00000026487
Gene: ENSMUSG00000090000

Domain	Start	End	E-Value	Type
Pfam:Yos1	5	82	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097521

SMART Domains

Protein: ENSMUSP00000095128
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	123	4.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097522

SMART Domains

Protein: ENSMUSP00000095129
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136800

Predicted Effect

probably benign
Transcript: ENSMUST00000142456

SMART Domains

Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Yos1	5	66	4.8e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152369

Predicted Effect

probably benign
Transcript: ENSMUST00000145634

SMART Domains

Protein: ENSMUSP00000123320
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147332

SMART Domains

Protein: ENSMUSP00000116152
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	123	4.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148955

SMART Domains

Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156454

SMART Domains

Protein: ENSMUSP00000123035
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	60	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150990

SMART Domains

Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143910

SMART Domains

Protein: ENSMUSP00000118678
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	116	2.5e-22	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,345 (GRCm39)	K196E	probably damaging	Het
Ackr1	T	C	1: 173,160,112 (GRCm39)		probably null	Het
Adgra1	C	T	7: 139,455,977 (GRCm39)	T535I	probably damaging	Het
Ankrd11	A	G	8: 123,623,326 (GRCm39)	Y310H	probably damaging	Het
Arhgef5	T	C	6: 43,252,033 (GRCm39)	I928T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asb4	C	A	6: 5,423,409 (GRCm39)	F185L	probably benign	Het
Ces2g	A	T	8: 105,692,602 (GRCm39)	I301F	probably benign	Het
Chd1	T	C	17: 15,980,657 (GRCm39)	I1308T	probably damaging	Het
Cntnap4	A	T	8: 113,391,898 (GRCm39)	N121I	probably damaging	Het
Csf1	C	T	3: 107,657,997 (GRCm39)		probably null	Het
Dnah7a	T	A	1: 53,483,685 (GRCm39)	H3364L	probably benign	Het
Dnmt3c	A	G	2: 153,562,280 (GRCm39)	T555A	possibly damaging	Het
Dst	A	G	1: 34,230,923 (GRCm39)	T3017A	probably benign	Het
Efcab7	A	G	4: 99,766,901 (GRCm39)	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,925,528 (GRCm39)	V154A	probably damaging	Het
Flt3	T	C	5: 147,312,454 (GRCm39)		silent	Het
G6pd2	A	T	5: 61,966,288 (GRCm39)	Y21F	probably benign	Het
Gm9376	C	T	14: 118,505,011 (GRCm39)	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,137,838 (GRCm39)	T426S	probably benign	Het
Herc3	T	A	6: 58,853,794 (GRCm39)	Y613*	probably null	Het
Hsd17b1	A	T	11: 100,970,838 (GRCm39)	M265L	probably benign	Het
Kif11	A	G	19: 37,404,940 (GRCm39)	M924V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lancl2	T	A	6: 57,690,019 (GRCm39)	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 39,888,091 (GRCm39)		probably benign	Het
Nlrc5	A	T	8: 95,247,467 (GRCm39)	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,006,061 (GRCm39)	I248M	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,528 (GRCm39)	I170M	possibly damaging	Het
Or14j1	T	C	17: 38,146,607 (GRCm39)	L239P	probably benign	Het
Qng1	A	G	13: 58,530,239 (GRCm39)	L257P	probably damaging	Het
Rabggta	A	G	14: 55,953,944 (GRCm39)	V266A	probably benign	Het
Ror2	G	A	13: 53,286,016 (GRCm39)	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Skp1	C	T	11: 52,135,905 (GRCm39)	T138I	probably benign	Het
Smad9	T	C	3: 54,690,182 (GRCm39)	V134A	probably damaging	Het
Snx29	T	A	16: 11,238,565 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,761,240 (GRCm39)	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,842,175 (GRCm39)	G302D	probably damaging	Het
Stom	T	C	2: 35,211,545 (GRCm39)	N159D	possibly damaging	Het
Trav16d-dv11	A	G	14: 53,285,035 (GRCm39)	K37R	probably benign	Het
Trim75	A	G	8: 65,436,369 (GRCm39)	V27A	probably damaging	Het
Ttn	T	C	2: 76,548,105 (GRCm39)	T32066A	probably damaging	Het
Txndc11	T	C	16: 10,893,087 (GRCm39)	H881R	probably benign	Het
Ubp1	C	T	9: 113,787,775 (GRCm39)	T222I	probably benign	Het
Unc5cl	C	G	17: 48,766,833 (GRCm39)	P69R	possibly damaging	Het
Zfp616	T	A	11: 73,961,950 (GRCm39)	C24S	probably damaging	Het

Other mutations in Ier3ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
alarmist	UTSW	18	77,017,874 (GRCm39)	missense	probably damaging	1.00
emergent	UTSW	18	77,028,221 (GRCm39)	missense	possibly damaging	0.72
R4888:Ier3ip1	UTSW	18	77,027,227 (GRCm39)	unclassified	probably benign
R6561:Ier3ip1	UTSW	18	77,027,344 (GRCm39)	missense	probably damaging	1.00
R6953:Ier3ip1	UTSW	18	77,027,309 (GRCm39)	missense	probably damaging	0.99
R7042:Ier3ip1	UTSW	18	77,017,828 (GRCm39)	missense	possibly damaging	0.73
R7227:Ier3ip1	UTSW	18	77,027,330 (GRCm39)	missense	probably benign	0.00
R8108:Ier3ip1	UTSW	18	77,028,221 (GRCm39)	missense	possibly damaging	0.72
R8437:Ier3ip1	UTSW	18	77,017,874 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCCATACTCCTCGGAAGC -3'
(R):5'- AAAGGCAGCAGTTTTGTGCC -3'

Sequencing Primer
(F):5'- CCTCGGAAGCTATTTATTGCTG -3'
(R):5'- GAGCCTGCTGAAACATGA -3'

Posted On

2015-07-21