Incidental Mutation 'R7181:Tcirg1'
| ID |
559015 |
| 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 |
045270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.857)
|
| Stock # |
R7181 (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 A
at 3953576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 117
(A117V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001801]
[ENSMUST00000122885]
[ENSMUST00000126070]
[ENSMUST00000135070]
[ENSMUST00000145791]
|
| AlphaFold |
Q9JHF5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001801
AA Change: A117V
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: A117V
| 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 |
probably null
Transcript: ENSMUST00000126070
AA Change: A117V
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: A117V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
1.2e-277 |
PFAM |
|
| 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 null
Transcript: ENSMUST00000145791
AA Change: A117V
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: A117V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,037 (GRCm39) |
N182D |
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,652,878 (GRCm39) |
|
probably null |
Het |
| Adm |
T |
C |
7: 110,228,236 (GRCm39) |
I139T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,852 (GRCm39) |
K4045N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,392,752 (GRCm39) |
S344R |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,306,691 (GRCm39) |
S1896G |
probably benign |
Het |
| Cd209c |
A |
G |
8: 3,995,712 (GRCm39) |
V30A |
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,825,557 (GRCm39) |
M520K |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,373,828 (GRCm39) |
T306I |
probably damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,149,587 (GRCm39) |
Y96* |
probably null |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Elmod1 |
A |
C |
9: 53,841,382 (GRCm39) |
|
probably null |
Het |
| Eva1b |
A |
G |
4: 126,043,446 (GRCm39) |
H162R |
possibly damaging |
Het |
| Fam222b |
A |
T |
11: 78,045,804 (GRCm39) |
N455I |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,447,146 (GRCm39) |
A626T |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,879,373 (GRCm39) |
T76A |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,788,640 (GRCm39) |
|
probably null |
Het |
| Gabrg2 |
T |
A |
11: 41,811,261 (GRCm39) |
I295F |
probably damaging |
Het |
| Gm10406 |
A |
T |
14: 7,027,359 (GRCm38) |
|
probably null |
Het |
| Gm47189 |
T |
C |
14: 41,492,059 (GRCm39) |
M73V |
probably benign |
Het |
| Gm9758 |
A |
T |
5: 14,963,667 (GRCm39) |
S54T |
probably damaging |
Het |
| Gm9857 |
A |
G |
3: 108,847,554 (GRCm39) |
S70P |
unknown |
Het |
| Gsap |
A |
T |
5: 21,458,427 (GRCm39) |
E470D |
probably damaging |
Het |
| Hesx1 |
T |
A |
14: 26,722,678 (GRCm39) |
M1K |
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,463,235 (GRCm39) |
D397G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 33,983,447 (GRCm39) |
N13I |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,803,706 (GRCm39) |
S194T |
possibly damaging |
Het |
| Mrps35 |
T |
G |
6: 146,957,491 (GRCm39) |
|
probably null |
Het |
| Myrfl |
G |
T |
10: 116,697,448 (GRCm39) |
N25K |
probably damaging |
Het |
| Or51b6b |
C |
A |
7: 103,310,020 (GRCm39) |
G146C |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,287 (GRCm39) |
Y219C |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,626 (GRCm39) |
I41N |
possibly damaging |
Het |
| Phf14 |
A |
T |
6: 11,933,340 (GRCm39) |
E67D |
unknown |
Het |
| Prdm16 |
C |
T |
4: 154,613,094 (GRCm39) |
G111D |
probably damaging |
Het |
| Prex1 |
G |
A |
2: 166,412,291 (GRCm39) |
A1568V |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,214,325 (GRCm39) |
T1692I |
unknown |
Het |
| Ptprb |
C |
T |
10: 116,204,671 (GRCm39) |
S1835L |
probably damaging |
Het |
| Rbm19 |
G |
A |
5: 120,254,532 (GRCm39) |
|
probably benign |
Het |
| Rgs7bp |
T |
A |
13: 105,119,382 (GRCm39) |
H152L |
possibly damaging |
Het |
| Rmdn3 |
A |
T |
2: 118,969,849 (GRCm39) |
L404Q |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,023,144 (GRCm39) |
F1148I |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,739,401 (GRCm39) |
H559N |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,872,992 (GRCm39) |
S34G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,613,203 (GRCm39) |
S366T |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,378,052 (GRCm39) |
E248D |
probably benign |
Het |
| Sesn1 |
G |
T |
10: 41,779,724 (GRCm39) |
R386L |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,602 (GRCm39) |
S430G |
unknown |
Het |
| Slc28a2 |
A |
T |
2: 122,282,462 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
T |
C |
3: 135,563,299 (GRCm39) |
F203S |
possibly damaging |
Het |
| Svip |
A |
G |
7: 51,653,177 (GRCm39) |
S46P |
possibly damaging |
Het |
| Tbx21 |
T |
A |
11: 96,989,923 (GRCm39) |
D423V |
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,984,094 (GRCm39) |
K258N |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,685,600 (GRCm39) |
N951S |
probably damaging |
Het |
| Uba2 |
G |
T |
7: 33,840,854 (GRCm39) |
D591E |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,258,893 (GRCm39) |
R1356W |
probably damaging |
Het |
| Wasf3 |
A |
G |
5: 146,403,615 (GRCm39) |
T242A |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,650,709 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,872 (GRCm39) |
K66E |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,182 (GRCm39) |
D1431E |
probably benign |
Het |
| Zhx2 |
G |
A |
15: 57,686,746 (GRCm39) |
R705H |
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 |
|
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 |
|
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'- GTTGTCTCAGAGAAGGGTCC -3'
(R):5'- ATGAGCTGGCATAACCCTGTG -3'
Sequencing Primer
(F):5'- AAGGGTCCTTCAGTATGGTCAGC -3'
(R):5'- GGCATAACCCTGTGTGACTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation