Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02512:Tinag'

296619

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tinag

Ensembl Gene

ENSMUSG00000032357

Gene Name

tubulointerstitial nephritis antigen

Synonyms

TIN-ag

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02512

Quality Score

Status

Chromosome

Chromosomal Location

76858975-76953076 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 76939069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034911] [ENSMUST00000184897]

AlphaFold

Q9WUR0

Predicted Effect

probably benign
Transcript: ENSMUST00000034911

SMART Domains

Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SO	58	105	1.68e-11	SMART
Pept_C1	216	466	1.83e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184897

SMART Domains

Protein: ENSMUSP00000139155
Gene: ENSMUSG00000032357

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SO	58	105	1.68e-11	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	C	A	15: 90,111,752 (GRCm39)	H199N	probably benign	Het
Ankrd13a	T	A	5: 114,924,827 (GRCm39)	M104K	probably benign	Het
Ankrd37	A	G	8: 46,452,325 (GRCm39)	L48P	probably damaging	Het
Ankzf1	T	A	1: 75,169,222 (GRCm39)	L43M	probably damaging	Het
Ano10	A	C	9: 122,101,540 (GRCm39)	V77G	possibly damaging	Het
Arg2	G	A	12: 79,194,517 (GRCm39)	V114I	probably benign	Het
Asah1	A	C	8: 41,813,344 (GRCm39)		probably benign	Het
Clpx	A	C	9: 65,217,533 (GRCm39)	I34L	probably benign	Het
Cnga2	G	A	X: 71,052,531 (GRCm39)	V469I	probably damaging	Het
Dock9	A	T	14: 121,856,950 (GRCm39)		probably benign	Het
Eaf1	A	G	14: 31,219,743 (GRCm39)	T61A	possibly damaging	Het
Exoc3l	T	A	8: 106,017,115 (GRCm39)	D624V	probably damaging	Het
Fancd2	A	G	6: 113,547,904 (GRCm39)	D927G	probably damaging	Het
Fbn1	A	T	2: 125,180,380 (GRCm39)	Y1801N	probably damaging	Het
Garnl3	A	G	2: 32,921,150 (GRCm39)	Y292H	probably damaging	Het
Gpr174	A	T	X: 106,336,577 (GRCm39)	K130*	probably null	Het
Greb1	C	T	12: 16,742,713 (GRCm39)	V1379I	possibly damaging	Het
Grik2	A	T	10: 49,232,008 (GRCm39)	D507E	probably benign	Het
Gsn	A	T	2: 35,173,962 (GRCm39)	K24*	probably null	Het
Ift80	A	G	3: 68,835,058 (GRCm39)		probably null	Het
Inpp5j	T	A	11: 3,449,661 (GRCm39)	Y707F	probably damaging	Het
Ints13	A	T	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kcnh1	T	C	1: 192,187,689 (GRCm39)	F717L	possibly damaging	Het
Klhdc8a	T	C	1: 132,230,895 (GRCm39)		probably null	Het
Klkb1	G	A	8: 45,729,277 (GRCm39)		probably benign	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Myo6	T	A	9: 80,199,801 (GRCm39)		probably null	Het
Nampt	T	A	12: 32,880,268 (GRCm39)	Y54N	possibly damaging	Het
Neurog2	G	T	3: 127,427,504 (GRCm39)	E43*	probably null	Het
Obscn	C	T	11: 58,919,343 (GRCm39)	R6887H	probably damaging	Het
Or10ag58	A	G	2: 87,265,402 (GRCm39)	I190M	possibly damaging	Het
Or5ac25	T	C	16: 59,182,171 (GRCm39)	N137D	possibly damaging	Het
Or6c203	A	G	10: 129,010,119 (GRCm39)	I257T	possibly damaging	Het
Pdss1	A	G	2: 22,802,658 (GRCm39)	I166V	probably damaging	Het
Phaf1	G	A	8: 105,961,110 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Reln	A	G	5: 22,245,425 (GRCm39)	Y728H	probably benign	Het
Sec31a	T	C	5: 100,555,052 (GRCm39)	D56G	probably damaging	Het
Shroom1	T	A	11: 53,357,386 (GRCm39)	V683E	probably damaging	Het
Slc5a11	A	G	7: 122,864,478 (GRCm39)	D358G	probably damaging	Het
Slfn3	T	A	11: 83,103,851 (GRCm39)	S241T	possibly damaging	Het
Slitrk3	G	A	3: 72,957,735 (GRCm39)	P346S	probably benign	Het
Specc1	T	A	11: 62,009,215 (GRCm39)	S324T	probably damaging	Het
Sptlc3	T	C	2: 139,389,123 (GRCm39)	Y168H	probably damaging	Het
St3gal6	C	T	16: 58,293,822 (GRCm39)	E236K	probably benign	Het
Tet2	A	T	3: 133,175,069 (GRCm39)	M1426K	probably benign	Het
Tjp1	A	G	7: 64,993,415 (GRCm39)	S53P	probably damaging	Het
Uimc1	T	C	13: 55,188,431 (GRCm39)	T543A	possibly damaging	Het
Wdfy4	A	G	14: 32,764,448 (GRCm39)	W2147R	probably benign	Het
Zmym1	C	T	4: 126,942,465 (GRCm39)	C641Y	probably damaging	Het

Other mutations in Tinag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01450:Tinag	APN	9	76,952,858 (GRCm39)	missense	possibly damaging	0.93
IGL01524:Tinag	APN	9	76,952,820 (GRCm39)	missense	probably damaging	1.00
IGL01537:Tinag	APN	9	76,952,885 (GRCm39)	missense	probably benign	0.01
IGL01832:Tinag	APN	9	76,939,038 (GRCm39)	missense	probably benign	0.18
IGL02888:Tinag	APN	9	76,938,995 (GRCm39)	missense	probably benign	0.24
G1citation:Tinag	UTSW	9	76,938,984 (GRCm39)	missense	probably benign	0.00
R0179:Tinag	UTSW	9	76,904,164 (GRCm39)	splice site	probably benign
R0200:Tinag	UTSW	9	76,859,217 (GRCm39)	missense	probably damaging	1.00
R0206:Tinag	UTSW	9	76,907,134 (GRCm39)	missense	probably damaging	1.00
R0545:Tinag	UTSW	9	76,938,992 (GRCm39)	missense	possibly damaging	0.61
R0666:Tinag	UTSW	9	76,912,969 (GRCm39)	missense	probably benign	0.02
R0685:Tinag	UTSW	9	76,859,285 (GRCm39)	missense	probably damaging	1.00
R0732:Tinag	UTSW	9	76,908,936 (GRCm39)	missense	possibly damaging	0.93
R1445:Tinag	UTSW	9	76,952,798 (GRCm39)	missense	probably damaging	1.00
R2318:Tinag	UTSW	9	76,952,693 (GRCm39)	missense	probably damaging	1.00
R3809:Tinag	UTSW	9	76,859,187 (GRCm39)	missense	probably benign	0.15
R4747:Tinag	UTSW	9	76,904,238 (GRCm39)	missense	probably benign
R4781:Tinag	UTSW	9	76,904,232 (GRCm39)	missense	possibly damaging	0.69
R5110:Tinag	UTSW	9	76,859,289 (GRCm39)	missense	probably damaging	1.00
R5328:Tinag	UTSW	9	76,912,913 (GRCm39)	nonsense	probably null
R5605:Tinag	UTSW	9	76,952,694 (GRCm39)	missense	probably damaging	1.00
R5897:Tinag	UTSW	9	76,952,726 (GRCm39)	missense	probably damaging	1.00
R6296:Tinag	UTSW	9	76,904,217 (GRCm39)	missense	possibly damaging	0.67
R6822:Tinag	UTSW	9	76,938,984 (GRCm39)	missense	probably benign	0.00
R6915:Tinag	UTSW	9	76,908,897 (GRCm39)	missense	probably damaging	1.00
R7285:Tinag	UTSW	9	76,952,943 (GRCm39)	missense	probably benign
R7334:Tinag	UTSW	9	76,908,931 (GRCm39)	missense	probably damaging	1.00
R7974:Tinag	UTSW	9	76,907,131 (GRCm39)	missense	probably benign	0.01
R8354:Tinag	UTSW	9	76,938,977 (GRCm39)	missense	probably damaging	1.00
R8454:Tinag	UTSW	9	76,938,977 (GRCm39)	missense	probably damaging	1.00
R9029:Tinag	UTSW	9	76,934,296 (GRCm39)	splice site	probably benign
R9072:Tinag	UTSW	9	76,904,300 (GRCm39)	critical splice acceptor site	probably null
R9073:Tinag	UTSW	9	76,904,300 (GRCm39)	critical splice acceptor site	probably null
R9508:Tinag	UTSW	9	76,912,981 (GRCm39)	missense	probably damaging	1.00
Z1177:Tinag	UTSW	9	76,952,780 (GRCm39)	missense	probably benign

Posted On

2015-04-16