Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Ier3ip1'

541345

Institutional Source

Beutler Lab

Gene Symbol

Ier3ip1

Ensembl Gene

ENSMUSG00000090000

Gene Name

immediate early response 3 interacting protein 1

Synonyms

1110057H19Rik

MMRRC Submission

045065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77017723-77029310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 77027309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 46 (P46R)

Ref Sequence

ENSEMBL: ENSMUSP00000118504 (fasta)

Gene Model

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

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: P46R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026487
Gene: ENSMUSG00000090000
AA Change: P46R

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

probably damaging
Transcript: ENSMUST00000142456
AA Change: P46R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421
AA Change: P46R

Domain	Start	End	E-Value	Type
Pfam:Yos1	5	66	4.8e-24	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: 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: 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: ENSMUST00000156454

SMART Domains

Protein: ENSMUSP00000123035
Gene: ENSMUSG00000025421

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,892,223 (GRCm39)	S128I	probably damaging	Het
Aadacl2	A	C	3: 59,932,181 (GRCm39)	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,265,661 (GRCm39)	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,865,592 (GRCm39)	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,192,142 (GRCm39)	K71*	probably null	Het
Ap2m1	T	A	16: 20,361,468 (GRCm39)	W381R	probably damaging	Het
Ascc3	A	G	10: 50,521,762 (GRCm39)	I426V	probably benign	Het
BC024063	T	A	10: 81,943,733 (GRCm39)	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,827,591 (GRCm39)	H209Y	possibly damaging	Het
Ccp110	T	C	7: 118,321,644 (GRCm39)	V433A	possibly damaging	Het
Cfap54	A	G	10: 92,830,540 (GRCm39)	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,329,866 (GRCm39)	D362A	probably benign	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnmt1	G	T	9: 20,829,822 (GRCm39)	Q633K	probably benign	Het
Ercc4	T	A	16: 12,948,550 (GRCm39)	V499D	probably damaging	Het
Ifi211	T	C	1: 173,733,832 (GRCm39)	T110A	probably damaging	Het
Isoc1	A	G	18: 58,804,374 (GRCm39)	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,701,637 (GRCm39)	D672G	possibly damaging	Het
Klhl33	T	A	14: 51,128,973 (GRCm39)	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,559,367 (GRCm39)	Y133H	probably benign	Het
Mrs2	C	A	13: 25,185,771 (GRCm39)	V134L	probably benign	Het
Muc16	T	C	9: 18,551,825 (GRCm39)	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,093,824 (GRCm39)	I62T	probably benign	Het
Or2m13	C	T	16: 19,226,278 (GRCm39)	V164I	probably benign	Het
Or2y10	A	G	11: 49,455,117 (GRCm39)	Y123C	probably damaging	Het
Or6c204	A	T	10: 129,022,474 (GRCm39)	M272K	probably benign	Het
Or7e175	A	T	9: 20,049,299 (GRCm39)	I296L	probably benign	Het
Papln	G	A	12: 83,828,659 (GRCm39)	W788*	probably null	Het
Pcdhac2	A	G	18: 37,277,479 (GRCm39)	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,823,807 (GRCm39)	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,953,514 (GRCm39)	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,104,662 (GRCm39)	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,800,882 (GRCm39)	D114G	probably damaging	Het
Polr2a	A	T	11: 69,632,537 (GRCm39)	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,345,029 (GRCm39)	M134V	probably benign	Het
Pum2	T	A	12: 8,778,779 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,524,210 (GRCm39)	E399G	probably damaging	Het
Sbspon	A	T	1: 15,930,519 (GRCm39)	S156T	probably damaging	Het
Scn1a	T	C	2: 66,149,813 (GRCm39)	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,354,520 (GRCm39)	S78*	probably null	Het
Serpina1d	G	A	12: 103,733,989 (GRCm39)	T105I	probably benign	Het
Slc25a21	T	A	12: 57,205,954 (GRCm39)	N26Y	probably benign	Het
Smim20	T	A	5: 53,435,258 (GRCm39)	D64E	probably damaging	Het
Spag17	T	G	3: 99,942,291 (GRCm39)	I772S	possibly damaging	Het
Tars2	T	C	3: 95,660,426 (GRCm39)	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,819,803 (GRCm39)	T101I	probably damaging	Het
Tldc2	T	G	2: 156,931,198 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Ush2a	A	G	1: 187,995,342 (GRCm39)	R38G	possibly damaging	Het
Usp19	T	C	9: 108,376,130 (GRCm39)	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,760,973 (GRCm39)	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,016,741 (GRCm39)	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 19,045,095 (GRCm39)	I504R	probably benign	Het
Zfp551	A	T	7: 12,150,715 (GRCm39)	C231*	probably null	Het
Zfp607a	T	A	7: 27,577,790 (GRCm39)	C287S	possibly damaging	Het
Zim1	T	A	7: 6,690,706 (GRCm39)	T40S	unknown	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
R6561:Ier3ip1	UTSW	18	77,027,344 (GRCm39)	missense	probably damaging	1.00
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'- TGGTTGTTGCCACTATCAAAAG -3'
(R):5'- TCAGGTTACAGAAGTCCATGTTC -3'

Sequencing Primer
(F):5'- CTTCACAGGGCTCAAACT -3'
(R):5'- GGTTACAGAAGTCCATGTTCCACAC -3'

Posted On

2018-11-28