Incidental Mutation 'R4367:Tcirg1'
ID |
325830 |
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 |
041673-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.857)
|
Stock # |
R4367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
3946050-3957133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3949069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 407
(D407N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001801]
[ENSMUST00000025760]
[ENSMUST00000072055]
[ENSMUST00000122885]
[ENSMUST00000126070]
[ENSMUST00000145791]
[ENSMUST00000135070]
[ENSMUST00000128694]
|
AlphaFold |
Q9JHF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001801
AA Change: D407N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001801 Gene: ENSMUSG00000001750 AA Change: D407N
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 damaging
Transcript: ENSMUST00000122885
AA Change: D62N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114768 Gene: ENSMUSG00000001750 AA Change: D62N
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
1 |
91 |
2.9e-44 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125859
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126070
AA Change: D407N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120531 Gene: ENSMUSG00000001750 AA Change: D407N
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
829 |
1.2e-277 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145791
AA Change: D407N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122474 Gene: ENSMUSG00000001750 AA Change: D407N
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134698
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131327
|
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 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 |
|
Meta Mutation Damage Score |
0.9454 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
98% (54/55) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb2 |
T |
C |
18: 62,312,127 (GRCm39) |
I233V |
probably damaging |
Het |
Alox5 |
T |
A |
6: 116,437,924 (GRCm39) |
Y21F |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,739,798 (GRCm39) |
T1942A |
probably benign |
Het |
Aoc1l1 |
T |
C |
6: 48,953,064 (GRCm39) |
S330P |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,880,671 (GRCm39) |
H432R |
probably benign |
Het |
Cttnbp2 |
A |
C |
6: 18,405,248 (GRCm39) |
C574G |
probably damaging |
Het |
Cyp1a1 |
T |
C |
9: 57,607,432 (GRCm39) |
V20A |
probably benign |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,126,467 (GRCm39) |
S1287P |
possibly damaging |
Het |
Dnttip2 |
T |
C |
3: 122,070,146 (GRCm39) |
S454P |
probably damaging |
Het |
Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
Fmo1 |
G |
C |
1: 162,661,217 (GRCm39) |
Y355* |
probably null |
Het |
Git2 |
T |
A |
5: 114,902,727 (GRCm39) |
H138L |
probably damaging |
Het |
Gpr162 |
G |
A |
6: 124,838,658 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,797,638 (GRCm39) |
I881T |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,646,747 (GRCm39) |
C1754S |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,914,246 (GRCm39) |
D116E |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,036,747 (GRCm39) |
D985G |
probably damaging |
Het |
Necap1 |
T |
C |
6: 122,864,337 (GRCm39) |
V273A |
probably damaging |
Het |
Nlrc5 |
T |
C |
8: 95,203,192 (GRCm39) |
S431P |
probably damaging |
Het |
Nutm2 |
A |
T |
13: 50,623,920 (GRCm39) |
T206S |
probably benign |
Het |
Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Or8g19 |
G |
A |
9: 39,055,725 (GRCm39) |
A110T |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,853,897 (GRCm39) |
R89H |
probably benign |
Het |
Prpf38b |
T |
C |
3: 108,818,487 (GRCm39) |
Y91C |
probably damaging |
Het |
Radil |
C |
T |
5: 142,480,560 (GRCm39) |
A632T |
probably benign |
Het |
Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
Specc1 |
T |
C |
11: 62,009,356 (GRCm39) |
S371P |
probably damaging |
Het |
Suco |
T |
C |
1: 161,674,799 (GRCm39) |
E416G |
probably damaging |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
Tefm |
G |
T |
11: 80,031,156 (GRCm39) |
L27I |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,225 (GRCm39) |
I1845T |
probably benign |
Het |
Tfam |
A |
T |
10: 71,069,233 (GRCm39) |
I119N |
probably damaging |
Het |
Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,804,889 (GRCm39) |
I947T |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,611,202 (GRCm39) |
T1205A |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,496 (GRCm39) |
R454G |
probably damaging |
Het |
Xylb |
T |
C |
9: 119,217,781 (GRCm39) |
V477A |
probably benign |
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 |
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 |
R7631:Tcirg1
|
UTSW |
19 |
3,947,160 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CCAAAGAAGGTCTGCCAGATC -3'
(R):5'- TCTGAAATGTGCCAAGTGGTCC -3'
Sequencing Primer
(F):5'- CCAGGGGGAGATGGTGTGC -3'
(R):5'- AGTGGTCCCTGCCTCATAAAC -3'
|
Posted On |
2015-07-06 |