Incidental Mutation 'R5417:Tcirg1'
ID |
501042 |
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.857)
|
Stock # |
R5417 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
3946050-3957133 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 3953509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001801]
[ENSMUST00000001801]
[ENSMUST00000122885]
[ENSMUST00000126070]
[ENSMUST00000145791]
[ENSMUST00000135070]
|
AlphaFold |
Q9JHF5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001801
|
SMART Domains |
Protein: ENSMUSP00000001801 Gene: ENSMUSG00000001750
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000001801
|
SMART Domains |
Protein: ENSMUSP00000001801 Gene: ENSMUSG00000001750
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
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 |
noncoding transcript
Transcript: ENSMUST00000125792
|
Predicted Effect |
probably null
Transcript: ENSMUST00000126070
|
SMART Domains |
Protein: ENSMUSP00000120531 Gene: ENSMUSG00000001750
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
27 |
829 |
1.2e-277 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127308
|
Predicted Effect |
probably null
Transcript: ENSMUST00000145791
|
SMART Domains |
Protein: ENSMUSP00000122474 Gene: ENSMUSG00000001750
Domain | Start | End | E-Value | Type |
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
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 |
noncoding transcript
Transcript: ENSMUST00000131327
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159824
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly 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 |
|
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'- GCTGTCCAGAAAAGACAAACTG -3'
(R):5'- TCTTGCGGGAAGAAGTGCAG -3'
Sequencing Primer
(F):5'- AACTGCCCCGACTCACTTG -3'
(R):5'- CAGCGGGCAGGTCTGAC -3'
|
Posted On |
2017-12-01 |