Incidental Mutation 'R8109:Tinagl1'
| ID |
643858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tinagl1
|
| Ensembl Gene |
ENSMUSG00000028776 |
| Gene Name |
tubulointerstitial nephritis antigen-like 1 |
| Synonyms |
androgen-regulated gene 1, Lcn7, AZ-1, Arg1, 1110021J17Rik |
| MMRRC Submission |
067538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R8109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
130059393-130068915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130063123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 149
(I149F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030560]
[ENSMUST00000105998]
[ENSMUST00000105999]
[ENSMUST00000132545]
[ENSMUST00000175992]
|
| AlphaFold |
Q99JR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030560
AA Change: I149F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030560
Gene: ENSMUSG00000028776
AA Change: I149F
| 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: I149F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101620
Gene: ENSMUSG00000028776
AA Change: I149F
| 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: I149F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101621
Gene: ENSMUSG00000028776
AA Change: I149F
| 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: ENSMUST00000132545
AA Change: I149F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135453
Gene: ENSMUSG00000028776
AA Change: I149F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SO
|
50 |
95 |
2.13e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175992
|
| SMART Domains |
Protein: ENSMUSP00000134900
Gene: ENSMUSG00000028776
| 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 |
|
| Meta Mutation Damage Score |
0.2985 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,767,284 (GRCm39) |
V130A |
probably benign |
Het |
| Acte1 |
C |
T |
7: 143,451,203 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
A |
C |
15: 11,331,877 (GRCm39) |
K1465T |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,166,306 (GRCm39) |
V223A |
|
Het |
| Adamtsl3 |
T |
A |
7: 82,251,487 (GRCm39) |
I1494N |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,148 (GRCm39) |
Y1606H |
|
Het |
| Arhgap32 |
A |
G |
9: 32,093,150 (GRCm39) |
I168V |
probably benign |
Het |
| Atxn7l2 |
G |
A |
3: 108,110,617 (GRCm39) |
R675C |
probably damaging |
Het |
| Brcc3dc |
A |
G |
10: 108,535,520 (GRCm39) |
M145T |
probably damaging |
Het |
| Bst2 |
A |
T |
8: 71,989,990 (GRCm39) |
W28R |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,975 (GRCm38) |
T861S |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,709,243 (GRCm39) |
Y147C |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,740,588 (GRCm39) |
N1187K |
probably damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,604 (GRCm39) |
W76R |
probably damaging |
Het |
| Ephb1 |
G |
A |
9: 101,918,222 (GRCm39) |
T429I |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,197,734 (GRCm39) |
Q21L |
unknown |
Het |
| Flrt2 |
T |
C |
12: 95,747,333 (GRCm39) |
V557A |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,581 (GRCm39) |
V204A |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Jph2 |
T |
C |
2: 163,181,206 (GRCm39) |
K653E |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,382 (GRCm39) |
S4724G |
probably damaging |
Het |
| Llgl2 |
T |
C |
11: 115,741,619 (GRCm39) |
V583A |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,236 (GRCm39) |
V1199A |
probably damaging |
Het |
| Mmp25 |
A |
G |
17: 23,863,768 (GRCm39) |
W21R |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,909,040 (GRCm39) |
C507S |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,618 (GRCm39) |
M27K |
probably benign |
Het |
| Pard6g |
T |
C |
18: 80,160,658 (GRCm39) |
V257A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,332,049 (GRCm39) |
V457A |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,941,891 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rhobtb2 |
C |
A |
14: 70,038,080 (GRCm39) |
R60L |
probably damaging |
Het |
| Rsph10b |
A |
C |
5: 143,922,348 (GRCm39) |
I845L |
probably benign |
Het |
| Sdf4 |
C |
T |
4: 156,094,295 (GRCm39) |
A325V |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,528,448 (GRCm39) |
D481G |
possibly damaging |
Het |
| Smo |
A |
G |
6: 29,755,522 (GRCm39) |
Y398C |
probably damaging |
Het |
| Sox18 |
A |
G |
2: 181,313,293 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,758,918 (GRCm39) |
S780T |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,480,353 (GRCm39) |
V239E |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,137 (GRCm39) |
T2675A |
probably benign |
Het |
| Thrap3 |
C |
A |
4: 126,080,273 (GRCm39) |
R31L |
unknown |
Het |
| Tnc |
A |
G |
4: 63,927,000 (GRCm39) |
V842A |
probably benign |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,772 (GRCm39) |
D222G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,846,781 (GRCm39) |
I773V |
probably benign |
Het |
| Vmn1r229 |
T |
C |
17: 21,035,268 (GRCm39) |
V171A |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,306,114 (GRCm39) |
E646G |
probably damaging |
Het |
| Zfp341 |
A |
T |
2: 154,469,820 (GRCm39) |
M168L |
probably benign |
Het |
| Zfp874a |
A |
C |
13: 67,597,563 (GRCm39) |
D13E |
possibly damaging |
Het |
|
| Other mutations in Tinagl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01908:Tinagl1
|
APN |
4 |
130,061,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAAGGCTAGAGGTCCTG -3'
(R):5'- GTGGACTTGCCTTTCAAAGCC -3'
Sequencing Primer
(F):5'- TGGAGCCGTGACAGCTAC -3'
(R):5'- ATTCAGGGGTTCCACTCCAGTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation