Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01079:Irag1'

51463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irag1

Ensembl Gene

ENSMUSG00000005611

Gene Name

inositol 1,4,5-triphosphate receptor associated 1

Synonyms

Ris1, Mrvi1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01079

Quality Score

Status

Chromosome

Chromosomal Location

110467473-110581668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110545174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 41 (A41T)

Ref Sequence

ENSEMBL: ENSMUSP00000114578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000154466]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005751

SMART Domains

Protein: ENSMUSP00000005751
Gene: ENSMUSG00000005611

Domain	Start	End	E-Value	Type
low complexity region	98	113	N/A	INTRINSIC
low complexity region	138	160	N/A	INTRINSIC
Pfam:MRVI1	265	856	1.8e-227	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125758
AA Change: A41T

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611
AA Change: A41T

Domain	Start	End	E-Value	Type
low complexity region	163	178	N/A	INTRINSIC
low complexity region	203	225	N/A	INTRINSIC
Pfam:MRVI1	336	921	1.5e-202	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142368

Predicted Effect

probably benign
Transcript: ENSMUST00000154466

SMART Domains

Protein: ENSMUSP00000120765
Gene: ENSMUSG00000005611

Domain	Start	End	E-Value	Type
low complexity region	98	113	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a putative tumor suppressor gene that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein participates in signaling by nitric oxide (NO) to inhibit intracellular calcium release and platelet aggregation in cardiovascular tissue. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a knock-out allele show lower blood pressure, a slightly reduced heart rate, and failure of cGMP-mediated relaxation of receptor-triggered smooth muscle contraction; 50% of mice die prematurely with an enlarged stomach, a dilated cecum, pyloric stenosis and impaired GI motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d1	T	A	5: 16,575,646 (GRCm39)	S1079T	probably benign	Het
Cstb	T	C	10: 78,262,779 (GRCm39)	S29P	probably benign	Het
Eif1ad13	A	T	12: 87,762,578 (GRCm39)	E99D	possibly damaging	Het
F8	T	A	X: 74,330,224 (GRCm39)	D1222V	probably damaging	Het
Fcgbpl1	A	T	7: 27,839,203 (GRCm39)	S339C	probably damaging	Het
Gal3st1	A	G	11: 3,948,564 (GRCm39)	E257G	probably damaging	Het
Gm5424	T	C	10: 61,907,863 (GRCm39)		noncoding transcript	Het
Ikbke	A	T	1: 131,193,384 (GRCm39)	D515E	possibly damaging	Het
Or51b6	A	G	7: 103,555,669 (GRCm39)	I5V	probably benign	Het
Or5d43	A	C	2: 88,105,060 (GRCm39)	F111C	probably damaging	Het
Or6c209	T	G	10: 129,483,243 (GRCm39)	L82R	possibly damaging	Het
Plekhg3	A	T	12: 76,609,052 (GRCm39)	I142L	possibly damaging	Het
Tet1	G	A	10: 62,715,252 (GRCm39)	T181I	probably damaging	Het
Tfcp2l1	T	C	1: 118,580,612 (GRCm39)	V102A	possibly damaging	Het

Other mutations in Irag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Irag1	APN	7	110,525,708 (GRCm39)	missense	possibly damaging	0.89
IGL01474:Irag1	APN	7	110,470,640 (GRCm39)	missense	possibly damaging	0.65
IGL02081:Irag1	APN	7	110,523,281 (GRCm39)	critical splice acceptor site	probably null
IGL02193:Irag1	APN	7	110,498,162 (GRCm39)	missense	probably damaging	1.00
IGL02537:Irag1	APN	7	110,470,680 (GRCm39)	nonsense	probably null
IGL03084:Irag1	APN	7	110,485,036 (GRCm39)	splice site	probably benign
IGL03264:Irag1	APN	7	110,525,553 (GRCm39)	missense	probably benign	0.00
hurricane	UTSW	7	110,523,170 (GRCm39)	missense	probably benign	0.09
R0346:Irag1	UTSW	7	110,498,183 (GRCm39)	missense	probably damaging	1.00
R0401:Irag1	UTSW	7	110,476,104 (GRCm39)	missense	probably benign	0.09
R0731:Irag1	UTSW	7	110,476,107 (GRCm39)	missense	probably benign	0.00
R1168:Irag1	UTSW	7	110,495,138 (GRCm39)	missense	probably damaging	1.00
R1342:Irag1	UTSW	7	110,487,252 (GRCm39)	missense	probably benign	0.07
R1887:Irag1	UTSW	7	110,523,740 (GRCm39)	critical splice donor site	probably null
R2183:Irag1	UTSW	7	110,498,189 (GRCm39)	missense	probably damaging	1.00
R3417:Irag1	UTSW	7	110,476,161 (GRCm39)	missense	possibly damaging	0.90
R3736:Irag1	UTSW	7	110,523,170 (GRCm39)	missense	probably benign	0.09
R4063:Irag1	UTSW	7	110,522,984 (GRCm39)	missense	probably benign	0.38
R4436:Irag1	UTSW	7	110,476,124 (GRCm39)	missense	probably damaging	1.00
R4523:Irag1	UTSW	7	110,523,048 (GRCm39)	missense	probably benign	0.02
R4948:Irag1	UTSW	7	110,487,236 (GRCm39)	missense	probably damaging	1.00
R5070:Irag1	UTSW	7	110,524,519 (GRCm39)	missense	probably benign
R5085:Irag1	UTSW	7	110,470,700 (GRCm39)	missense	probably damaging	1.00
R5605:Irag1	UTSW	7	110,545,209 (GRCm39)	missense	possibly damaging	0.85
R6194:Irag1	UTSW	7	110,498,901 (GRCm39)	missense	probably damaging	1.00
R6218:Irag1	UTSW	7	110,476,112 (GRCm39)	missense	probably benign	0.00
R6273:Irag1	UTSW	7	110,470,790 (GRCm39)	missense	probably benign	0.01
R6608:Irag1	UTSW	7	110,487,758 (GRCm39)	missense	probably damaging	1.00
R6754:Irag1	UTSW	7	110,528,719 (GRCm39)	missense	probably damaging	1.00
R6835:Irag1	UTSW	7	110,520,541 (GRCm39)	missense	probably damaging	1.00
R7064:Irag1	UTSW	7	110,495,061 (GRCm39)	missense	probably damaging	1.00
R7304:Irag1	UTSW	7	110,498,931 (GRCm39)	missense	possibly damaging	0.77
R7412:Irag1	UTSW	7	110,522,963 (GRCm39)	missense	probably benign	0.06
R7420:Irag1	UTSW	7	110,470,680 (GRCm39)	nonsense	probably null
R7857:Irag1	UTSW	7	110,522,742 (GRCm39)	nonsense	probably null
R8078:Irag1	UTSW	7	110,498,942 (GRCm39)	missense	probably damaging	1.00
R8139:Irag1	UTSW	7	110,498,879 (GRCm39)	critical splice donor site	probably null
R8280:Irag1	UTSW	7	110,522,828 (GRCm39)	missense	possibly damaging	0.82
R8733:Irag1	UTSW	7	110,477,425 (GRCm39)	missense	probably benign	0.02
R8946:Irag1	UTSW	7	110,477,347 (GRCm39)	critical splice donor site	probably null
R9150:Irag1	UTSW	7	110,498,205 (GRCm39)	missense	probably benign	0.12
R9321:Irag1	UTSW	7	110,524,534 (GRCm39)	missense	probably benign	0.03
R9373:Irag1	UTSW	7	110,545,038 (GRCm39)	critical splice donor site	probably null
R9445:Irag1	UTSW	7	110,545,161 (GRCm39)	missense	possibly damaging	0.71
R9482:Irag1	UTSW	7	110,545,259 (GRCm39)	missense	probably benign	0.03
R9715:Irag1	UTSW	7	110,470,640 (GRCm39)	missense	possibly damaging	0.65
X0065:Irag1	UTSW	7	110,523,251 (GRCm39)	missense	probably benign	0.31
Z1176:Irag1	UTSW	7	110,523,206 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-21