Incidental Mutation 'R7631:Tcirg1'
| ID |
589667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcirg1
|
| Ensembl Gene |
ENSMUSG00000001750 |
| Gene Name |
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 |
| Synonyms |
OC-116, TIRC7, V-ATPase a3, ATP6a3, Atp6i |
| MMRRC Submission |
045692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.857)
|
| Stock # |
R7631 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
3946050-3957133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3947160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 634
(Q634K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001801]
[ENSMUST00000025760]
[ENSMUST00000072055]
[ENSMUST00000122885]
[ENSMUST00000126070]
[ENSMUST00000128694]
[ENSMUST00000135070]
[ENSMUST00000145791]
|
| AlphaFold |
Q9JHF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001801
AA Change: Q634K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: Q634K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025760
|
| SMART Domains |
Protein: ENSMUSP00000025760
Gene: ENSMUSG00000024843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
|
Pfam:APH
|
108 |
373 |
2.4e-11 |
PFAM |
|
Pfam:Choline_kinase
|
135 |
370 |
8.2e-82 |
PFAM |
|
Pfam:EcKinase
|
211 |
345 |
2.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072055
|
| SMART Domains |
Protein: ENSMUSP00000071933
Gene: ENSMUSG00000024843
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
74 |
N/A |
INTRINSIC |
|
Pfam:APH
|
108 |
358 |
6.4e-12 |
PFAM |
|
Pfam:Choline_kinase
|
135 |
352 |
1.6e-84 |
PFAM |
|
Pfam:EcKinase
|
190 |
329 |
2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122885
|
| SMART Domains |
Protein: ENSMUSP00000114768
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
1 |
91 |
2.9e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126070
AA Change: Q634K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: Q634K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
1.2e-277 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128694
|
| SMART Domains |
Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4DA5|B
|
1 |
150 |
2e-60 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132164
|
| SMART Domains |
Protein: ENSMUSP00000120968
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
1 |
190 |
4.5e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135070
|
| SMART Domains |
Protein: ENSMUSP00000121241
Gene: ENSMUSG00000001750
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145791
AA Change: Q634K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: Q634K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
| Meta Mutation Damage Score |
0.8901 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
87% (46/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for mutant alleles exhibit severe osteopetrosis with increased bone density due to failure of secondary bone resorption. Mutants lack teeth and die around 30-40 days of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,834,606 (GRCm39) |
L930H |
possibly damaging |
Het |
| Albfm1 |
T |
C |
5: 90,727,531 (GRCm39) |
L383S |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,109,276 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 97,015,462 (GRCm39) |
H1577R |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,302,694 (GRCm39) |
N9S |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,279,079 (GRCm39) |
V491A |
possibly damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,285,865 (GRCm39) |
L57Q |
possibly damaging |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,763 (GRCm39) |
Q150L |
possibly damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,363 (GRCm39) |
Y1336* |
probably null |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,445 (GRCm39) |
T1796A |
probably benign |
Het |
| Defa27 |
T |
A |
8: 21,805,657 (GRCm39) |
D32E |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,744,019 (GRCm39) |
E96G |
probably benign |
Het |
| Fbxw19 |
T |
A |
9: 109,311,069 (GRCm39) |
Y380F |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,890,195 (GRCm39) |
N243K |
probably damaging |
Het |
| Fndc7 |
G |
A |
3: 108,776,568 (GRCm39) |
A491V |
probably damaging |
Het |
| Gm14305 |
A |
G |
2: 176,410,790 (GRCm39) |
Q15R |
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,213,291 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,624,513 (GRCm39) |
H360R |
probably damaging |
Het |
| Ifi203 |
G |
A |
1: 173,754,688 (GRCm39) |
T681I |
unknown |
Het |
| Klc2 |
A |
G |
19: 5,158,647 (GRCm39) |
S616P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,214,258 (GRCm39) |
Y704C |
probably damaging |
Het |
| Lingo4 |
A |
C |
3: 94,306,767 (GRCm39) |
D15A |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,795,884 (GRCm39) |
N286Y |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,669,963 (GRCm39) |
T374A |
not run |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,576,791 (GRCm39) |
T847A |
possibly damaging |
Het |
| Nrxn2 |
T |
A |
19: 6,531,825 (GRCm39) |
M763K |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or1p4-ps1 |
A |
C |
11: 74,208,357 (GRCm39) |
T169P |
unknown |
Het |
| Or2r3 |
T |
A |
6: 42,448,870 (GRCm39) |
M81L |
probably benign |
Het |
| Or5m11 |
A |
T |
2: 85,782,218 (GRCm39) |
E270D |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,092,002 (GRCm39) |
V39E |
probably damaging |
Het |
| Otx1 |
G |
A |
11: 21,949,458 (GRCm39) |
Q7* |
probably null |
Het |
| Pabpc4 |
T |
G |
4: 123,182,763 (GRCm39) |
D133E |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,542,144 (GRCm39) |
C816S |
probably damaging |
Het |
| Pgm2 |
A |
G |
5: 64,265,522 (GRCm39) |
T408A |
possibly damaging |
Het |
| Polr2m |
G |
C |
9: 71,390,757 (GRCm39) |
Y148* |
probably null |
Het |
| Reln |
T |
C |
5: 22,176,933 (GRCm39) |
N1911S |
probably damaging |
Het |
| Scaf4 |
T |
C |
16: 90,026,445 (GRCm39) |
D1124G |
unknown |
Het |
| Scgb1b19 |
C |
T |
7: 32,986,784 (GRCm39) |
T18I |
probably damaging |
Het |
| Septin12 |
T |
A |
16: 4,814,320 (GRCm39) |
I50F |
probably damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,539,491 (GRCm39) |
M22K |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smchd1 |
A |
G |
17: 71,705,684 (GRCm39) |
F972L |
probably benign |
Het |
| Spem1 |
T |
C |
11: 69,712,409 (GRCm39) |
Y85C |
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,524,247 (GRCm39) |
V557I |
possibly damaging |
Het |
| Tma7 |
T |
A |
9: 108,911,507 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
A |
G |
17: 25,299,414 (GRCm39) |
L35P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,626,702 (GRCm39) |
T351A |
probably benign |
Het |
| Tubb2a |
A |
G |
13: 34,259,227 (GRCm39) |
S188P |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,029,751 (GRCm39) |
L485F |
|
Het |
| Vmn1r71 |
A |
T |
7: 10,482,378 (GRCm39) |
S103R |
probably damaging |
Het |
| Vmn2r40 |
C |
T |
7: 8,911,119 (GRCm39) |
D725N |
|
Het |
| Zfp473 |
T |
C |
7: 44,383,128 (GRCm39) |
R402G |
possibly damaging |
Het |
| Zfp82 |
A |
T |
7: 29,755,851 (GRCm39) |
S410R |
probably damaging |
Het |
|
| Other mutations in Tcirg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Tcirg1
|
APN |
19 |
3,949,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01735:Tcirg1
|
APN |
19 |
3,954,210 (GRCm39) |
splice site |
probably benign |
|
|
IGL03143:Tcirg1
|
APN |
19 |
3,948,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Tcirg1
|
UTSW |
19 |
3,947,866 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1131:Tcirg1
|
UTSW |
19 |
3,946,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1223:Tcirg1
|
UTSW |
19 |
3,948,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1548:Tcirg1
|
UTSW |
19 |
3,946,845 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1867:Tcirg1
|
UTSW |
19 |
3,948,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Tcirg1
|
UTSW |
19 |
3,952,843 (GRCm39) |
intron |
probably benign |
|
|
R2262:Tcirg1
|
UTSW |
19 |
3,953,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4367:Tcirg1
|
UTSW |
19 |
3,949,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Tcirg1
|
UTSW |
19 |
3,952,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5417:Tcirg1
|
UTSW |
19 |
3,953,509 (GRCm39) |
splice site |
probably null |
|
|
R5551:Tcirg1
|
UTSW |
19 |
3,948,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Tcirg1
|
UTSW |
19 |
3,952,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6026:Tcirg1
|
UTSW |
19 |
3,947,487 (GRCm39) |
missense |
probably benign |
|
|
R6517:Tcirg1
|
UTSW |
19 |
3,951,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Tcirg1
|
UTSW |
19 |
3,946,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Tcirg1
|
UTSW |
19 |
3,953,576 (GRCm39) |
missense |
probably null |
0.56 |
|
R7422:Tcirg1
|
UTSW |
19 |
3,949,008 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7768:Tcirg1
|
UTSW |
19 |
3,952,900 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7899:Tcirg1
|
UTSW |
19 |
3,949,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Tcirg1
|
UTSW |
19 |
3,949,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Tcirg1
|
UTSW |
19 |
3,946,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Tcirg1
|
UTSW |
19 |
3,952,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9292:Tcirg1
|
UTSW |
19 |
3,947,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Tcirg1
|
UTSW |
19 |
3,953,400 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9695:Tcirg1
|
UTSW |
19 |
3,952,360 (GRCm39) |
missense |
probably null |
0.69 |
|
Z1176:Tcirg1
|
UTSW |
19 |
3,953,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCAGCCCCTGAAATAG -3'
(R):5'- GAGCCAATGGACTAAAGTTTGG -3'
Sequencing Primer
(F):5'- AGCCCCTGAAATAGCCCGTG -3'
(R):5'- CCAATGGACTAAAGTTTGGGTCTCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation