Mutagenetix > Incidental Mutation

Incidental Mutation 'R8139:Irag1'

632413

Institutional Source

Beutler Lab

Gene Symbol

Irag1

Ensembl Gene

ENSMUSG00000005611

Gene Name

inositol 1,4,5-triphosphate receptor associated 1

Synonyms

Ris1, Mrvi1

MMRRC Submission

067567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110467473-110581668 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 110498879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005751] [ENSMUST00000125758] [ENSMUST00000127935]

AlphaFold

no structure available at present

Predicted Effect

probably null
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

probably null
Transcript: ENSMUST00000125758

SMART Domains

Protein: ENSMUSP00000114578
Gene: ENSMUSG00000005611

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

probably null
Transcript: ENSMUST00000127935

SMART Domains

Protein: ENSMUSP00000120045
Gene: ENSMUSG00000005611

Domain	Start	End	E-Value	Type
Pfam:MRVI1	124	715	7.9e-228	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

100% (84/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	T	X: 69,438,120 (GRCm39)	Q58K	possibly damaging	Het
Aamdc	T	C	7: 97,214,450 (GRCm39)	M42V	probably benign	Het
Abca6	T	A	11: 110,074,959 (GRCm39)	Q1368L	probably damaging	Het
Best3	G	A	10: 116,840,331 (GRCm39)	G254R	probably damaging	Het
Cacna1h	A	T	17: 25,602,697 (GRCm39)	I1478N	probably damaging	Het
Ccdc113	T	A	8: 96,285,366 (GRCm39)	M350K	possibly damaging	Het
Cdc42bpa	A	T	1: 179,896,884 (GRCm39)	H389L	probably damaging	Het
Cnn3	G	T	3: 121,248,718 (GRCm39)	M208I	probably damaging	Het
Col11a1	A	G	3: 113,890,698 (GRCm39)	D345G	unknown	Het
Degs1l	A	G	1: 180,882,358 (GRCm39)	D40G	probably damaging	Het
Dnah14	G	T	1: 181,582,853 (GRCm39)	V3131F	probably damaging	Het
Dst	T	A	1: 34,230,933 (GRCm39)	M2842K	probably benign	Het
Dus3l	C	T	17: 57,074,058 (GRCm39)	Q211*	probably null	Het
Eftud2	A	G	11: 102,758,685 (GRCm39)	F171S	probably benign	Het
Elac2	T	C	11: 64,871,440 (GRCm39)	I117T	probably benign	Het
Fam13b	A	G	18: 34,606,686 (GRCm39)	C302R	possibly damaging	Het
Fbxl5	G	A	5: 43,916,087 (GRCm39)	Q442*	probably null	Het
Fhdc1	A	G	3: 84,358,790 (GRCm39)	S370P	probably damaging	Het
Gtf3c6	T	C	10: 40,133,469 (GRCm39)		probably null	Het
I830077J02Rik	A	G	3: 105,835,314 (GRCm39)	V21A	probably benign	Het
Inf2	G	T	12: 112,568,074 (GRCm39)	E209*	probably null	Het
Irs1	A	T	1: 82,267,460 (GRCm39)	M252K	probably damaging	Het
Kcng3	C	A	17: 83,938,516 (GRCm39)	V178L	probably damaging	Het
Kif16b	A	C	2: 142,743,285 (GRCm39)	S3A	probably benign	Het
Kit	T	C	5: 75,813,465 (GRCm39)	M884T	probably damaging	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Kptn	T	C	7: 15,857,901 (GRCm39)	I243T	probably benign	Het
Loxhd1	G	A	18: 77,468,192 (GRCm39)	E947K	possibly damaging	Het
Lyl1	A	T	8: 85,429,476 (GRCm39)	I62L	probably damaging	Het
Mmp24	C	T	2: 155,655,965 (GRCm39)	R468*	probably null	Het
Mtx2	G	A	2: 74,706,714 (GRCm39)	D230N	probably benign	Het
Ndufa5	A	T	6: 24,522,757 (GRCm39)	Y28*	probably null	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Nrxn3	A	G	12: 90,171,438 (GRCm39)	N923S	probably benign	Het
Ogfod2	C	T	5: 124,251,538 (GRCm39)	T116M	possibly damaging	Het
Oosp1	T	C	19: 11,645,118 (GRCm39)	E182G	possibly damaging	Het
Or4c115	A	G	2: 88,928,187 (GRCm39)	V28A	probably benign	Het
Or5p67	T	A	7: 107,922,113 (GRCm39)	T257S	probably benign	Het
Or7g20	A	T	9: 18,946,871 (GRCm39)	I151F	probably benign	Het
Or7g28	A	C	9: 19,272,504 (GRCm39)	V49G	probably damaging	Het
Oxnad1	C	A	14: 31,814,048 (GRCm39)	T47K	possibly damaging	Het
Pcdha5	A	G	18: 37,095,791 (GRCm39)	M767V	possibly damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pde4dip	G	T	3: 97,604,309 (GRCm39)	Q2224K	probably benign	Het
Pgr	A	T	9: 8,956,341 (GRCm39)	H763L	possibly damaging	Het
Plec	T	C	15: 76,058,510 (GRCm39)	D3809G	probably damaging	Het
Ppfia1	A	G	7: 144,074,430 (GRCm39)	S155P	probably damaging	Het
Ppfia4	A	G	1: 134,228,266 (GRCm39)	V1090A	probably benign	Het
Ptgdr	T	C	14: 45,096,142 (GRCm39)	E190G	probably benign	Het
Rhbdd2	T	A	5: 135,665,189 (GRCm39)	C173*	probably null	Het
Rhobtb1	C	A	10: 69,102,120 (GRCm39)	P134T	probably damaging	Het
Slc25a36	A	T	9: 96,962,505 (GRCm39)	F161L	probably benign	Het
Slc5a11	A	G	7: 122,869,199 (GRCm39)	T596A	probably benign	Het
Slco1a6	T	C	6: 142,035,626 (GRCm39)	Y566C	probably damaging	Het
Snx15	T	G	19: 6,169,945 (GRCm39)	K321T	probably damaging	Het
Snx15	T	C	19: 6,169,946 (GRCm39)	K321E	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Syt8	T	C	7: 141,992,005 (GRCm39)	I32T	probably benign	Het
Thumpd1	T	C	7: 119,319,808 (GRCm39)	N53D	possibly damaging	Het
Timm21	T	C	18: 84,969,263 (GRCm39)	T54A	probably benign	Het
Tmed10	A	G	12: 85,391,091 (GRCm39)	V149A	probably damaging	Het
Tmem108	T	A	9: 103,377,084 (GRCm39)	M122L	probably benign	Het
Tram1l1	A	G	3: 124,115,436 (GRCm39)	I199V	probably benign	Het
Tspan8	A	G	10: 115,675,802 (GRCm39)	N156S	probably benign	Het
Vamp9	A	G	5: 100,072,785 (GRCm39)	I111V	probably benign	Het
Vars1	T	C	17: 35,230,480 (GRCm39)	V521A	probably benign	Het
Vmn2r54	G	T	7: 12,349,743 (GRCm39)	T613N	possibly damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Vps33a	T	C	5: 123,672,015 (GRCm39)	K451R	probably benign	Het
Vsig10l	T	C	7: 43,113,153 (GRCm39)	I35T	probably benign	Het
Xpnpep3	T	A	15: 81,332,660 (GRCm39)	L399Q	probably damaging	Het
Zfp438	T	C	18: 5,214,013 (GRCm39)	E315G	probably benign	Het
Zfp467	C	T	6: 48,416,268 (GRCm39)	G128D	probably damaging	Het

Other mutations in Irag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Irag1	APN	7	110,545,174 (GRCm39)	missense	possibly damaging	0.64
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
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

Predicted Primers

PCR Primer
(F):5'- ACCATCGCTCTCCTAAGGATCTG -3'
(R):5'- GGCTTGAGCAAGAATCCCAC -3'

Sequencing Primer
(F):5'- TCTCCTAAGGATCTGCCAGG -3'
(R):5'- CGGCAGTCACTCCTTCCAG -3'

Posted On

2020-06-30