Incidental Mutation 'R5551:Tcirg1'
| ID |
435159 |
| 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 |
043108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.853)
|
| Stock # |
R5551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3946050-3957133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3948858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 442
(F442L)
|
| 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: F442L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001801
Gene: ENSMUSG00000001750
AA Change: F442L
| 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 |
noncoding transcript
Transcript: ENSMUST00000125792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125859
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126070
AA Change: F442L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120531
Gene: ENSMUSG00000001750
AA Change: F442L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
829 |
1.2e-277 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131327
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145791
AA Change: F442L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122474
Gene: ENSMUSG00000001750
AA Change: F442L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
830 |
4.4e-287 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127308
|
| 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: 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: ENSMUST00000128694
|
| SMART Domains |
Protein: ENSMUSP00000119919
Gene: ENSMUSG00000024843
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4DA5|B
|
1 |
150 |
2e-60 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB041806 |
G |
T |
4: 138,123,312 (GRCm39) |
P3T |
probably damaging |
Het |
| Abl1 |
C |
T |
2: 31,691,682 (GRCm39) |
A1048V |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,923,726 (GRCm39) |
V659A |
probably damaging |
Het |
| Acox1 |
A |
G |
11: 116,080,317 (GRCm39) |
S29P |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,634 (GRCm39) |
I405T |
probably benign |
Het |
| Afm |
A |
T |
5: 90,679,511 (GRCm39) |
E335V |
probably null |
Het |
| Akap6 |
C |
T |
12: 52,842,747 (GRCm39) |
P32S |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,182,028 (GRCm39) |
M1332V |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Atp2c1 |
C |
A |
9: 105,336,936 (GRCm39) |
A16S |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,844,753 (GRCm39) |
E1438G |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,404,741 (GRCm39) |
Y2376H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,492 (GRCm39) |
T349A |
probably benign |
Het |
| Ctsr |
A |
T |
13: 61,307,357 (GRCm39) |
M313K |
probably damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,031,718 (GRCm39) |
S3516P |
possibly damaging |
Het |
| Ehd4 |
A |
G |
2: 119,958,100 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ets2 |
T |
C |
16: 95,513,165 (GRCm39) |
W114R |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,603 (GRCm39) |
V484E |
probably damaging |
Het |
| Golph3 |
C |
A |
15: 12,321,922 (GRCm39) |
S35R |
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,526,248 (GRCm39) |
Y240H |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,558,639 (GRCm39) |
F75S |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Iqch |
A |
T |
9: 63,403,535 (GRCm39) |
|
probably null |
Het |
| Katnip |
T |
C |
7: 125,419,249 (GRCm39) |
F472S |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,553 (GRCm39) |
T2447I |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,422,240 (GRCm39) |
C4459R |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,659,113 (GRCm39) |
E497G |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,515,698 (GRCm39) |
V1701E |
possibly damaging |
Het |
| Nat8f1 |
T |
C |
6: 85,887,891 (GRCm39) |
D23G |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,902,497 (GRCm39) |
E250K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,817 (GRCm39) |
M1067V |
probably benign |
Het |
| Or4k36 |
T |
C |
2: 111,145,916 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pde4d |
T |
A |
13: 110,084,930 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,591,398 (GRCm39) |
Y348H |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,595 (GRCm39) |
V958A |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,002 (GRCm39) |
Y677C |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,654 (GRCm39) |
C347R |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,953,383 (GRCm39) |
Y95H |
probably benign |
Het |
| Srrm2 |
C |
A |
17: 24,037,450 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,474 (GRCm39) |
K390E |
probably damaging |
Het |
| Tars1 |
G |
A |
15: 11,392,068 (GRCm39) |
T248M |
probably damaging |
Het |
| Tex55 |
A |
G |
16: 38,648,336 (GRCm39) |
Y258H |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,133 (GRCm39) |
E162G |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,660,271 (GRCm39) |
C656R |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,719,406 (GRCm39) |
|
probably benign |
Het |
| Uqcrc2 |
C |
T |
7: 120,244,461 (GRCm39) |
T201I |
probably damaging |
Het |
| Zfp282 |
G |
T |
6: 47,867,579 (GRCm39) |
A252S |
possibly damaging |
Het |
| Zfp473 |
G |
C |
7: 44,383,575 (GRCm39) |
P253A |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,824,786 (GRCm39) |
N1068D |
probably damaging |
Het |
| Zfp946 |
A |
G |
17: 22,674,365 (GRCm39) |
Q373R |
probably damaging |
Het |
| Zmat2 |
G |
A |
18: 36,927,010 (GRCm39) |
G6R |
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 |
|
|
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'- GGGACAGATACTCGTCACTG -3'
(R):5'- GTCCTCACTGAAAACCGTCC -3'
Sequencing Primer
(F):5'- TGTCAGAGCTGCACAGTG -3'
(R):5'- TGAAAACCGTCCAGCTGTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation