Incidental Mutation 'RF043:Irag2'
| ID |
604915 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF043 (G1)
|
| Quality Score |
214.46 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145061379-145120660 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TG to TGAGCACATGG
at 145119516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000135984]
[ENSMUST00000204105]
|
| 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 |
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 |
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 |
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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGTGGCGG |
18: 36,693,970 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
CAAA |
CAAAAAA |
11: 58,814,752 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,464 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGACACACTGCCCAGGGA |
AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGCAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
G |
T |
11: 5,094,322 (GRCm39) |
P63Q |
probably damaging |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Gar1 |
AACTGCC |
A |
3: 129,624,337 (GRCm39) |
|
probably benign |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,755 (GRCm39) |
|
probably null |
Het |
| Hic1 |
GGGA |
G |
11: 75,060,281 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
AGGGGCGGCAGC |
A |
11: 99,525,547 (GRCm39) |
|
probably null |
Het |
| Lmx1b |
CATCTTGATGCCGTCCAA |
CA |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,015 (GRCm39) |
|
probably null |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCTGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGTGAGGAGCAAGCTGAGA |
AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA |
2: 119,458,073 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
GGTGTTG |
GG |
11: 54,001,076 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Plekhs1 |
TCCAGAC |
TCCAGACCTCCCCCCAGAC |
19: 56,468,290 (GRCm39) |
|
probably benign |
Het |
| Ptms |
TCCTCCTC |
TCCTCCTCCTC |
6: 124,891,411 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
AATGGGGATTC |
AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC |
5: 90,756,791 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAA |
15: 36,010,982 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTC |
TCTCTCTCTCTCTCGCTC |
12: 26,364,013 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
GAG |
GAGAAG |
14: 52,386,852 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
ACACAC |
A |
12: 75,769,399 (GRCm39) |
|
probably null |
Het |
| Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GGA |
GGATGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GA |
GAGCA |
X: 98,110,133 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
AGC |
AGCTCGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,154 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- GTCTCACCTGACCATTATACTACACAG -3'
(R):5'- AAGTTCCTGCCTGGTGTAAAAC -3'
Sequencing Primer
(F):5'- AATTCCAGTAAGTTTTGTGAGCG -3'
(R):5'- CCTGCCTGGTGTAAAACTGTTAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation