Incidental Mutation 'R8446:Tinagl1'
ID |
654488 |
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 |
067827-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R8446 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
130059393-130068915 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 130060694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030560]
[ENSMUST00000105998]
[ENSMUST00000105999]
[ENSMUST00000132545]
[ENSMUST00000175992]
|
AlphaFold |
Q99JR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030560
|
SMART Domains |
Protein: ENSMUSP00000030560 Gene: ENSMUSG00000028776
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: ENSMUST00000105998
|
SMART Domains |
Protein: ENSMUSP00000101620 Gene: ENSMUSG00000028776
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 null
Transcript: ENSMUST00000105999
|
SMART Domains |
Protein: ENSMUSP00000101621 Gene: ENSMUSG00000028776
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
G |
A |
5: 24,771,641 (GRCm39) |
R529* |
probably null |
Het |
Afap1 |
T |
A |
5: 36,144,645 (GRCm39) |
S122T |
|
Het |
Arnt |
TG |
T |
3: 95,382,014 (GRCm39) |
|
probably null |
Het |
Bbs1 |
G |
A |
19: 4,947,633 (GRCm39) |
T307I |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,604,411 (GRCm39) |
S1439T |
|
Het |
Camk4 |
T |
A |
18: 33,289,810 (GRCm39) |
H152Q |
probably damaging |
Het |
Capn2 |
A |
T |
1: 182,311,796 (GRCm39) |
M426K |
possibly damaging |
Het |
Chrm3 |
C |
T |
13: 9,928,338 (GRCm39) |
G233S |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,454,248 (GRCm39) |
Y461N |
probably damaging |
Het |
Clip1 |
G |
C |
5: 123,794,008 (GRCm39) |
P12A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,230,336 (GRCm39) |
L1584P |
possibly damaging |
Het |
Commd5 |
T |
C |
15: 76,785,094 (GRCm39) |
S164P |
probably damaging |
Het |
Csgalnact1 |
A |
G |
8: 68,913,743 (GRCm39) |
V154A |
probably damaging |
Het |
Ddias |
C |
A |
7: 92,515,818 (GRCm39) |
C25F |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,329,875 (GRCm39) |
I3240F |
probably damaging |
Het |
Fam186a |
T |
G |
15: 99,845,335 (GRCm39) |
D303A |
unknown |
Het |
Igkv8-27 |
A |
G |
6: 70,148,932 (GRCm39) |
I74T |
probably damaging |
Het |
Itgb2l |
G |
T |
16: 96,233,857 (GRCm39) |
Q278K |
probably damaging |
Het |
Itgb7 |
T |
C |
15: 102,127,043 (GRCm39) |
E464G |
probably damaging |
Het |
Kdm2a |
G |
A |
19: 4,406,916 (GRCm39) |
Q116* |
probably null |
Het |
Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,942,035 (GRCm39) |
|
probably null |
Het |
Lnx2 |
A |
G |
5: 146,970,169 (GRCm39) |
L191S |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Myh4 |
T |
A |
11: 67,144,347 (GRCm39) |
M1239K |
probably benign |
Het |
Nckap5l |
C |
A |
15: 99,323,930 (GRCm39) |
G858C |
probably benign |
Het |
Nelfa |
A |
T |
5: 34,058,982 (GRCm39) |
L262Q |
probably damaging |
Het |
Or2j3 |
A |
G |
17: 38,615,638 (GRCm39) |
V238A |
probably benign |
Het |
Or8b46 |
A |
T |
9: 38,450,964 (GRCm39) |
M258L |
probably benign |
Het |
Pdgfa |
T |
C |
5: 138,964,395 (GRCm39) |
T211A |
unknown |
Het |
Prl3d2 |
A |
T |
13: 27,307,976 (GRCm39) |
I86F |
probably benign |
Het |
Rpf2 |
T |
A |
10: 40,115,752 (GRCm39) |
T76S |
probably benign |
Het |
Setbp1 |
C |
T |
18: 78,900,971 (GRCm39) |
D899N |
probably damaging |
Het |
Slc35c1 |
T |
A |
2: 92,284,707 (GRCm39) |
E315D |
probably benign |
Het |
Slc6a3 |
A |
T |
13: 73,719,674 (GRCm39) |
M568L |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,314,602 (GRCm39) |
M737V |
probably benign |
Het |
Sox17 |
A |
G |
1: 4,562,316 (GRCm39) |
Y295H |
possibly damaging |
Het |
Tex44 |
A |
T |
1: 86,354,696 (GRCm39) |
I202F |
possibly damaging |
Het |
Tlr4 |
T |
A |
4: 66,757,673 (GRCm39) |
N155K |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,186,061 (GRCm39) |
F68I |
probably damaging |
Het |
Trim67 |
G |
T |
8: 125,520,730 (GRCm39) |
A31S |
probably damaging |
Het |
Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,778,553 (GRCm39) |
M1316R |
unknown |
Het |
Usp40 |
T |
C |
1: 87,906,190 (GRCm39) |
T682A |
probably benign |
Het |
Wfs1 |
A |
T |
5: 37,128,953 (GRCm39) |
D272E |
probably benign |
Het |
Zfp763 |
A |
T |
17: 33,238,473 (GRCm39) |
M224K |
probably benign |
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 |
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 |
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'- TTCAAAGCTCCTCACGGTCC -3'
(R):5'- ACCCTTTCTTTGCAGGAAGCTC -3'
Sequencing Primer
(F):5'- CCTCAGTTTGGCAGAGAA -3'
(R):5'- TCAATGTCTAATATGAGGCTCTGG -3'
|
Posted On |
2020-10-20 |