Mutagenetix > Incidental Mutation

Incidental Mutation 'R6561:Ier3ip1'

523150

Institutional Source

Beutler Lab

Gene Symbol

Ier3ip1

Ensembl Gene

ENSMUSG00000090000

Gene Name

immediate early response 3 interacting protein 1

Synonyms

1110057H19Rik

MMRRC Submission

044685-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6561 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77017723-77029310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77027344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 58 (S58T)

Ref Sequence

ENSEMBL: ENSMUSP00000118504 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000026487
AA Change: S58T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026487
Gene: ENSMUSG00000090000
AA Change: S58T

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 damaging
Transcript: ENSMUST00000142456
AA Change: S58T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421
AA Change: S58T

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: 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: 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: 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: ENSMUST00000143910

SMART Domains

Protein: ENSMUSP00000118678
Gene: ENSMUSG00000025421

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

Meta Mutation Damage Score

0.6358

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

97% (30/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,977,825 (GRCm39)	I468F	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Anapc1	A	G	2: 128,505,919 (GRCm39)	V639A	probably damaging	Het
Cdh12	A	G	15: 21,492,680 (GRCm39)	Y233C	probably damaging	Het
Dchs2	G	T	3: 83,036,476 (GRCm39)	V408F	probably benign	Het
Dnmt3c	T	A	2: 153,561,950 (GRCm39)	L551Q	probably damaging	Het
Dock2	A	G	11: 34,578,365 (GRCm39)	F746S	probably damaging	Het
Fastkd3	C	T	13: 68,732,149 (GRCm39)	R157C	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,135,504 (GRCm39)	V1809A	probably damaging	Het
Kif22	T	A	7: 126,630,225 (GRCm39)	N437I	probably benign	Het
Klri1	A	G	6: 129,693,964 (GRCm39)	V41A	probably benign	Het
Lrrc14	T	A	15: 76,597,646 (GRCm39)	D125E	possibly damaging	Het
Nek10	A	T	14: 14,828,448 (GRCm38)	N90I	possibly damaging	Het
Nostrin	G	A	2: 69,011,201 (GRCm39)	A331T	probably benign	Het
Or4k2	T	C	14: 50,423,775 (GRCm39)	K300E	probably damaging	Het
Or5b109	A	G	19: 13,212,394 (GRCm39)	Y260C	probably damaging	Het
Or8b12i	T	C	9: 20,082,073 (GRCm39)	T265A	probably benign	Het
Plxna1	A	G	6: 89,333,960 (GRCm39)	V223A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Skic3	T	A	13: 76,298,638 (GRCm39)	S1115T	probably damaging	Het
Smg1	A	T	7: 117,765,300 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,314,496 (GRCm39)	I772T	probably benign	Het
Sptbn2	A	G	19: 4,797,954 (GRCm39)	N1927S	probably benign	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Trbv15	A	T	6: 41,118,414 (GRCm39)	T57S	probably benign	Het
Vmn1r78	A	T	7: 11,886,826 (GRCm39)	I146F	probably damaging	Het
Vmn2r39	T	A	7: 9,018,092 (GRCm39)	Y748F	probably damaging	Het
Zfp493	T	A	13: 67,934,338 (GRCm39)	V65D	possibly 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
R4469:Ier3ip1	UTSW	18	77,028,294 (GRCm39)	unclassified	probably benign
R4888:Ier3ip1	UTSW	18	77,027,227 (GRCm39)	unclassified	probably benign
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'- TCTTCACAGGGCTCAAACTAG -3'
(R):5'- GAGTGTACTAGTAACACTGAACTTCC -3'

Sequencing Primer
(F):5'- CAGGGCTCAAACTAGTTTTTAAAAG -3'
(R):5'- CTTCCTAGAAGTCAGATGCAATGG -3'

Posted On

2018-06-06