Incidental Mutation 'R0634:Irag2'
ID |
58142 |
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 |
038823-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0634 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145120354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 523
(H523L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000204105]
[ENSMUST00000135984]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032396
AA Change: H523L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032396 Gene: ENSMUSG00000030263 AA Change: H523L
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060797
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
Pfam:Casc1_N
|
29 |
229 |
5.5e-61 |
PFAM |
Pfam:Casc1
|
241 |
469 |
3.4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111728
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
Pfam:Casc1
|
228 |
456 |
6.1e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132937
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132948
AA Change: H487L
|
SMART Domains |
Protein: ENSMUSP00000120248 Gene: ENSMUSG00000030263 AA Change: H487L
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135191
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204105
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
Pfam:Casc1_N
|
29 |
229 |
3.4e-57 |
PFAM |
Pfam:Casc1
|
241 |
469 |
2.3e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
Meta Mutation Damage Score |
0.2867 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,264,491 (GRCm39) |
I2958V |
possibly damaging |
Het |
Adam21 |
C |
A |
12: 81,607,126 (GRCm39) |
W212L |
probably benign |
Het |
Adcy2 |
A |
C |
13: 68,876,064 (GRCm39) |
H479Q |
possibly damaging |
Het |
Adcy4 |
T |
C |
14: 56,019,054 (GRCm39) |
R168G |
probably benign |
Het |
Adrm1b |
C |
T |
3: 92,336,116 (GRCm39) |
W125* |
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,734,240 (GRCm39) |
|
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,464 (GRCm39) |
E304K |
possibly damaging |
Het |
Cc2d2a |
A |
C |
5: 43,838,723 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,952,588 (GRCm39) |
L1426P |
probably damaging |
Het |
Cntn1 |
A |
T |
15: 92,212,444 (GRCm39) |
R869* |
probably null |
Het |
Creb3l2 |
A |
T |
6: 37,311,283 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
G |
A |
4: 133,802,615 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,276,405 (GRCm39) |
F800I |
probably damaging |
Het |
Dock6 |
G |
A |
9: 21,752,823 (GRCm39) |
T330I |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,517,200 (GRCm39) |
E311K |
possibly damaging |
Het |
Fbxo22 |
A |
T |
9: 55,122,244 (GRCm39) |
Q141L |
probably benign |
Het |
Fer |
C |
T |
17: 64,342,503 (GRCm39) |
T223M |
probably benign |
Het |
Gtf3c1 |
A |
T |
7: 125,256,649 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
G |
A |
5: 31,317,150 (GRCm39) |
R684* |
probably null |
Het |
Hs6st3 |
T |
A |
14: 120,106,474 (GRCm39) |
L294* |
probably null |
Het |
Ighg2c |
T |
G |
12: 113,251,584 (GRCm39) |
E181A |
unknown |
Het |
Igkv6-15 |
A |
T |
6: 70,383,763 (GRCm39) |
|
probably benign |
Het |
Map2k6 |
C |
T |
11: 110,385,169 (GRCm39) |
R178* |
probably null |
Het |
Meikin |
T |
A |
11: 54,281,309 (GRCm39) |
D126E |
probably benign |
Het |
Mgst1 |
A |
T |
6: 138,133,329 (GRCm39) |
T37S |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,238,518 (GRCm39) |
V1222M |
probably benign |
Het |
Myom2 |
C |
A |
8: 15,169,216 (GRCm39) |
|
probably benign |
Het |
Negr1 |
A |
G |
3: 156,721,903 (GRCm39) |
K159R |
possibly damaging |
Het |
Nptx1 |
T |
C |
11: 119,434,127 (GRCm39) |
T320A |
possibly damaging |
Het |
Or12j3 |
A |
T |
7: 139,953,310 (GRCm39) |
V71E |
possibly damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,961 (GRCm39) |
M107K |
probably benign |
Het |
Or5p66 |
T |
C |
7: 107,885,503 (GRCm39) |
I277V |
probably benign |
Het |
Pes1 |
C |
T |
11: 3,927,794 (GRCm39) |
|
probably benign |
Het |
Pes1 |
T |
G |
11: 3,927,795 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,698 (GRCm39) |
Y3537N |
probably damaging |
Het |
Poteg |
G |
A |
8: 27,963,615 (GRCm39) |
G289R |
probably benign |
Het |
Pramel29 |
A |
G |
4: 143,935,910 (GRCm39) |
|
probably null |
Het |
Rassf5 |
T |
C |
1: 131,172,693 (GRCm39) |
R59G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,223,867 (GRCm39) |
W961R |
probably damaging |
Het |
Rhot2 |
G |
A |
17: 26,061,002 (GRCm39) |
H168Y |
possibly damaging |
Het |
Ripk3 |
G |
T |
14: 56,025,848 (GRCm39) |
|
probably benign |
Het |
Samm50 |
A |
G |
15: 84,098,372 (GRCm39) |
|
silent |
Het |
Sap30bp |
T |
C |
11: 115,848,229 (GRCm39) |
I117T |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sipa1l2 |
A |
T |
8: 126,149,363 (GRCm39) |
L1632* |
probably null |
Het |
Sirt7 |
T |
C |
11: 120,512,955 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,976,934 (GRCm39) |
T216A |
possibly damaging |
Het |
Sox9 |
A |
G |
11: 112,675,768 (GRCm39) |
Y319C |
probably damaging |
Het |
Sspn |
G |
A |
6: 145,906,877 (GRCm39) |
A27T |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,666,373 (GRCm39) |
V509A |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,661 (GRCm39) |
C2375Y |
possibly damaging |
Het |
Trbv21 |
T |
A |
6: 41,179,984 (GRCm39) |
|
probably benign |
Het |
Uimc1 |
C |
T |
13: 55,208,079 (GRCm39) |
E455K |
possibly damaging |
Het |
Upk3b |
A |
G |
5: 136,068,930 (GRCm39) |
T100A |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,707,862 (GRCm39) |
N1303D |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,610,862 (GRCm39) |
D476V |
probably benign |
Het |
Vmn1r68 |
A |
G |
7: 10,261,162 (GRCm39) |
V312A |
probably benign |
Het |
Wdr62 |
A |
G |
7: 29,969,599 (GRCm39) |
V287A |
probably damaging |
Het |
Zcchc4 |
C |
T |
5: 52,940,550 (GRCm39) |
P40S |
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,034,069 (GRCm39) |
Y26* |
probably null |
Het |
Zfp592 |
A |
G |
7: 80,687,819 (GRCm39) |
H915R |
probably damaging |
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 |
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 |
R6701:Irag2
|
UTSW |
6 |
145,090,702 (GRCm39) |
nonsense |
probably null |
|
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'- CGTCCTTCAGAAGAGCCAACAGAG -3'
(R):5'- TTTAAGAGCACCAGGCGTTCCAG -3'
Sequencing Primer
(F):5'- GAGCCAACAGAGCACTCTGG -3'
(R):5'- TCTGATGCCTCTCACTCAGAAAG -3'
|
Posted On |
2013-07-11 |