Incidental Mutation 'R6701:Irag2'
| ID |
528745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irag2
|
| Ensembl Gene |
ENSMUSG00000030263 |
| Gene Name |
inositol 1,4,5-triphosphate receptor associated 2 |
| Synonyms |
Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3 |
| MMRRC Submission |
044819-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6701 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 145090702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 61
(E61*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000135984]
[ENSMUST00000152571]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032396
|
| SMART Domains |
Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132948
|
| SMART Domains |
Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149244
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152571
AA Change: E61*
|
| SMART Domains |
Protein: ENSMUSP00000120166
Gene: ENSMUSG00000030263
AA Change: E61*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
9 |
198 |
2.2e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156849
|
| SMART Domains |
Protein: ENSMUSP00000115043
Gene: ENSMUSG00000030263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRVI1
|
9 |
196 |
1.2e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204561
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
T |
10: 4,305,243 (GRCm39) |
K684N |
probably damaging |
Het |
| Akna |
C |
T |
4: 63,313,517 (GRCm39) |
G202D |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,522,985 (GRCm39) |
D19V |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,134,286 (GRCm39) |
K1196I |
probably damaging |
Het |
| Asic3 |
A |
T |
5: 24,619,127 (GRCm39) |
M140L |
possibly damaging |
Het |
| Bfsp2 |
C |
T |
9: 103,357,077 (GRCm39) |
V117M |
possibly damaging |
Het |
| Bltp3a |
T |
A |
17: 28,106,331 (GRCm39) |
C952* |
probably null |
Het |
| Cd244a |
C |
A |
1: 171,401,723 (GRCm39) |
L150M |
possibly damaging |
Het |
| Cd3e |
T |
C |
9: 44,912,351 (GRCm39) |
Y131C |
probably damaging |
Het |
| Clptm1l |
T |
C |
13: 73,757,025 (GRCm39) |
I202T |
probably benign |
Het |
| Cnot4 |
G |
T |
6: 35,045,539 (GRCm39) |
T224K |
probably damaging |
Het |
| Col24a1 |
A |
G |
3: 145,020,141 (GRCm39) |
T171A |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,942,191 (GRCm39) |
T309S |
probably benign |
Het |
| Ddx21 |
T |
C |
10: 62,426,470 (GRCm39) |
Y461C |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,837,223 (GRCm39) |
V989M |
probably benign |
Het |
| Dppa4 |
A |
T |
16: 48,111,674 (GRCm39) |
K220* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,089,172 (GRCm39) |
G912S |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,706,091 (GRCm39) |
N815K |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,735,748 (GRCm39) |
L1139F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,103,087 (GRCm39) |
I78S |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,403,718 (GRCm39) |
S156R |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,799,412 (GRCm39) |
|
probably null |
Het |
| Frzb |
G |
A |
2: 80,277,163 (GRCm39) |
R8W |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,715,596 (GRCm39) |
D47E |
probably damaging |
Het |
| Haus3 |
A |
T |
5: 34,325,078 (GRCm39) |
F194I |
probably damaging |
Het |
| Hivep3 |
C |
T |
4: 119,951,737 (GRCm39) |
R18W |
probably damaging |
Het |
| Hnf1b |
A |
G |
11: 83,779,920 (GRCm39) |
T392A |
probably damaging |
Het |
| Hsd17b1 |
C |
A |
11: 100,970,981 (GRCm39) |
C312* |
probably null |
Het |
| Ighg2b |
T |
C |
12: 113,270,699 (GRCm39) |
T144A |
unknown |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Jhy |
T |
C |
9: 40,828,887 (GRCm39) |
R340G |
probably damaging |
Het |
| Klra3 |
C |
G |
6: 130,307,216 (GRCm39) |
V144L |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Lrrc4 |
A |
G |
6: 28,830,905 (GRCm39) |
F237L |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,856,070 (GRCm39) |
C2464S |
probably benign |
Het |
| Maml1 |
T |
C |
11: 50,157,509 (GRCm39) |
E222G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,489,447 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,296,444 (GRCm39) |
I69V |
probably null |
Het |
| Neb |
T |
C |
2: 52,181,220 (GRCm39) |
K1129R |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,041,113 (GRCm39) |
N159K |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,541 (GRCm39) |
N1022K |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,296 (GRCm39) |
N286D |
probably damaging |
Het |
| Or5g9 |
A |
G |
2: 85,552,675 (GRCm39) |
K309E |
probably benign |
Het |
| Or5w15 |
C |
T |
2: 87,567,753 (GRCm39) |
R305K |
probably benign |
Het |
| Otof |
T |
A |
5: 30,528,141 (GRCm39) |
K1901* |
probably null |
Het |
| Pde1c |
A |
T |
6: 56,158,685 (GRCm39) |
Y136N |
probably damaging |
Het |
| Phc1 |
G |
T |
6: 122,302,733 (GRCm39) |
N263K |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,296,430 (GRCm39) |
D1871E |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,751 (GRCm39) |
M123K |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,425,066 (GRCm39) |
D430G |
probably damaging |
Het |
| Rsl24d1 |
C |
A |
9: 73,022,279 (GRCm39) |
T287K |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,168,304 (GRCm39) |
R101W |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,937,977 (GRCm39) |
D1741G |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,080,924 (GRCm39) |
Q53R |
probably benign |
Het |
| Serpinf2 |
C |
T |
11: 75,323,269 (GRCm39) |
R479H |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,856,860 (GRCm39) |
D448V |
probably damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,712,947 (GRCm39) |
D256E |
probably benign |
Het |
| Slc30a8 |
A |
G |
15: 52,194,970 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,490,347 (GRCm39) |
V103A |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,232,149 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,159,274 (GRCm39) |
L327P |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,142,133 (GRCm39) |
Y660C |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,199,388 (GRCm39) |
T519A |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,513,500 (GRCm39) |
S1245T |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,619,162 (GRCm39) |
S16072R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,739,590 (GRCm39) |
Y3650N |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,314,444 (GRCm39) |
F117S |
probably damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,035,779 (GRCm39) |
H296R |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,802,023 (GRCm39) |
P93S |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,569 (GRCm39) |
I2937F |
possibly damaging |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,446 (GRCm39) |
|
probably null |
Het |
| Zfp12 |
T |
C |
5: 143,230,219 (GRCm39) |
V182A |
probably benign |
Het |
| Zfp473 |
G |
T |
7: 44,382,218 (GRCm39) |
A705D |
possibly damaging |
Het |
| Zfp937 |
G |
T |
2: 150,081,136 (GRCm39) |
G389C |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,264,748 (GRCm39) |
D582G |
probably benign |
Het |
|
| Other mutations in Irag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Irag2
|
APN |
6 |
145,113,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01066:Irag2
|
APN |
6 |
145,106,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Irag2
|
APN |
6 |
145,093,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02154:Irag2
|
APN |
6 |
145,083,967 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02727:Irag2
|
APN |
6 |
145,120,344 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
FR4976:Irag2
|
UTSW |
6 |
145,119,511 (GRCm39) |
unclassified |
probably benign |
|
|
R0238:Irag2
|
UTSW |
6 |
145,117,704 (GRCm39) |
unclassified |
probably benign |
|
|
R0239:Irag2
|
UTSW |
6 |
145,117,704 (GRCm39) |
unclassified |
probably benign |
|
|
R0454:Irag2
|
UTSW |
6 |
145,113,710 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0485:Irag2
|
UTSW |
6 |
145,110,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:Irag2
|
UTSW |
6 |
145,110,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0554:Irag2
|
UTSW |
6 |
145,111,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0634:Irag2
|
UTSW |
6 |
145,120,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1440:Irag2
|
UTSW |
6 |
145,120,237 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1574:Irag2
|
UTSW |
6 |
145,104,356 (GRCm39) |
splice site |
probably benign |
|
|
R1697:Irag2
|
UTSW |
6 |
145,083,341 (GRCm39) |
splice site |
probably benign |
|
|
R1968:Irag2
|
UTSW |
6 |
145,115,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3735:Irag2
|
UTSW |
6 |
145,106,596 (GRCm39) |
splice site |
probably benign |
|
|
R3736:Irag2
|
UTSW |
6 |
145,106,596 (GRCm39) |
splice site |
probably benign |
|
|
R4643:Irag2
|
UTSW |
6 |
145,113,786 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4812:Irag2
|
UTSW |
6 |
145,093,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Irag2
|
UTSW |
6 |
145,111,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Irag2
|
UTSW |
6 |
145,083,946 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5845:Irag2
|
UTSW |
6 |
145,117,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Irag2
|
UTSW |
6 |
145,106,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Irag2
|
UTSW |
6 |
145,115,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7317:Irag2
|
UTSW |
6 |
145,104,424 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7468:Irag2
|
UTSW |
6 |
145,119,427 (GRCm39) |
splice site |
probably null |
|
|
R8429:Irag2
|
UTSW |
6 |
145,110,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Irag2
|
UTSW |
6 |
145,117,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8779:Irag2
|
UTSW |
6 |
145,083,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Irag2
|
UTSW |
6 |
145,117,390 (GRCm39) |
missense |
probably benign |
|
|
R9034:Irag2
|
UTSW |
6 |
145,083,273 (GRCm39) |
missense |
probably benign |
|
|
R9487:Irag2
|
UTSW |
6 |
145,120,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9488:Irag2
|
UTSW |
6 |
145,113,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9676:Irag2
|
UTSW |
6 |
145,120,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Irag2
|
UTSW |
6 |
145,119,509 (GRCm39) |
unclassified |
probably benign |
|
|
RF015:Irag2
|
UTSW |
6 |
145,119,509 (GRCm39) |
unclassified |
probably benign |
|
|
RF017:Irag2
|
UTSW |
6 |
145,119,510 (GRCm39) |
unclassified |
probably benign |
|
|
RF027:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Irag2
|
UTSW |
6 |
145,119,514 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF044:Irag2
|
UTSW |
6 |
145,119,516 (GRCm39) |
unclassified |
probably benign |
|
|
RF048:Irag2
|
UTSW |
6 |
145,119,510 (GRCm39) |
unclassified |
probably benign |
|
|
RF052:Irag2
|
UTSW |
6 |
145,106,257 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF054:Irag2
|
UTSW |
6 |
145,119,514 (GRCm39) |
unclassified |
probably benign |
|
|
RF055:Irag2
|
UTSW |
6 |
145,119,511 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Irag2
|
UTSW |
6 |
145,093,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATTGCCAGCTACAAGATTG -3'
(R):5'- ATTTGTAAGCCTGGTAGCCTG -3'
Sequencing Primer
(F):5'- GCTACAAGATTGACTGATAACCG -3'
(R):5'- AGCCTGGGACACTTGTTCTCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation