Incidental Mutation 'IGL01908:Tinagl1'
| ID |
179726 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tinagl1
|
| Ensembl Gene |
ENSMUSG00000028776 |
| Gene Name |
tubulointerstitial nephritis antigen-like 1 |
| Synonyms |
androgen-regulated gene 1, Lcn7, AZ-1, Arg1, 1110021J17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
IGL01908
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
130059393-130068915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 130061223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 309
(T309K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030560]
[ENSMUST00000105998]
[ENSMUST00000105999]
[ENSMUST00000132545]
[ENSMUST00000175992]
|
| AlphaFold |
Q99JR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030560
AA Change: T340K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030560
Gene: ENSMUSG00000028776
AA Change: T340K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SO
|
50 |
95 |
2.13e-2 |
SMART |
|
Pept_C1
|
202 |
455 |
2.62e-62 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105998
AA Change: T340K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101620
Gene: ENSMUSG00000028776
AA Change: T340K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SO
|
50 |
95 |
2.13e-2 |
SMART |
|
Pept_C1
|
202 |
455 |
2.62e-62 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105999
AA Change: T340K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101621
Gene: ENSMUSG00000028776
AA Change: T340K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SO
|
50 |
95 |
2.13e-2 |
SMART |
|
Pept_C1
|
202 |
455 |
2.62e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132545
|
| SMART Domains |
Protein: ENSMUSP00000135453
Gene: ENSMUSG00000028776
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SO
|
50 |
95 |
2.13e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175822
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175992
AA Change: T309K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134900
Gene: ENSMUSG00000028776
AA Change: T309K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SO
|
50 |
95 |
2.13e-2 |
SMART |
|
Pept_C1
|
171 |
424 |
2.62e-62 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Female mice homozygous for a null mutation display impaired fertility and homozygous pups born to homozygous females show impaired postnatal survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
G |
T |
6: 48,883,690 (GRCm39) |
R522L |
probably damaging |
Het |
| Asic5 |
G |
T |
3: 81,913,877 (GRCm39) |
G184* |
probably null |
Het |
| Bcr |
T |
A |
10: 74,897,705 (GRCm39) |
I283N |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,822,640 (GRCm39) |
T134A |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,761,270 (GRCm39) |
|
probably benign |
Het |
| Clnk |
T |
A |
5: 38,870,485 (GRCm39) |
N358Y |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,075 (GRCm39) |
V256E |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,601 (GRCm39) |
S270R |
probably benign |
Het |
| Dhx57 |
G |
T |
17: 80,558,872 (GRCm39) |
P1029H |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,783,861 (GRCm39) |
M277T |
possibly damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,299,728 (GRCm39) |
K874R |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,658,295 (GRCm39) |
L627Q |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,349,929 (GRCm39) |
C416* |
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,995,007 (GRCm39) |
C920R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,816 (GRCm39) |
T3768A |
probably benign |
Het |
| Luzp2 |
T |
G |
7: 54,821,944 (GRCm39) |
S154A |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,266,906 (GRCm39) |
T7S |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,592 (GRCm39) |
V838D |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,186,929 (GRCm39) |
D816E |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,084,857 (GRCm39) |
V603A |
probably benign |
Het |
| Trappc11 |
G |
A |
8: 47,957,029 (GRCm39) |
A799V |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,943 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn1r40 |
T |
G |
6: 89,691,291 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,285 (GRCm39) |
A34V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Tinagl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Tinagl1
|
APN |
4 |
130,061,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Tinagl1
|
UTSW |
4 |
130,060,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Tinagl1
|
UTSW |
4 |
130,067,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Tinagl1
|
UTSW |
4 |
130,061,842 (GRCm39) |
missense |
probably benign |
|
|
R2020:Tinagl1
|
UTSW |
4 |
130,060,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Tinagl1
|
UTSW |
4 |
130,061,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2281:Tinagl1
|
UTSW |
4 |
130,060,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Tinagl1
|
UTSW |
4 |
130,067,724 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5058:Tinagl1
|
UTSW |
4 |
130,061,250 (GRCm39) |
missense |
probably benign |
|
|
R5908:Tinagl1
|
UTSW |
4 |
130,066,763 (GRCm39) |
nonsense |
probably null |
|
|
R6247:Tinagl1
|
UTSW |
4 |
130,066,725 (GRCm39) |
missense |
probably null |
1.00 |
|
R6608:Tinagl1
|
UTSW |
4 |
130,066,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7699:Tinagl1
|
UTSW |
4 |
130,061,832 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8109:Tinagl1
|
UTSW |
4 |
130,063,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8351:Tinagl1
|
UTSW |
4 |
130,061,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8446:Tinagl1
|
UTSW |
4 |
130,060,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8451:Tinagl1
|
UTSW |
4 |
130,061,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8671:Tinagl1
|
UTSW |
4 |
130,061,597 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9008:Tinagl1
|
UTSW |
4 |
130,067,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Tinagl1
|
UTSW |
4 |
130,061,271 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1176:Tinagl1
|
UTSW |
4 |
130,060,107 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2014-05-07 |
Incidental Mutation