Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Tinag'

713556

Institutional Source

Beutler Lab

Gene Symbol

Tinag

Ensembl Gene

ENSMUSG00000032357

Gene Name

tubulointerstitial nephritis antigen

Synonyms

TIN-ag

MMRRC Submission

068858-MU

Accession Numbers

Essential gene?

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

Stock #

R9029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76858975-76953076 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 76934296 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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gm5460	T	A	14: 33,739,326 (GRCm39)	S103T		Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Hpd	G	A	5: 123,313,973 (GRCm39)	T271M	probably damaging	Het
Ift74	T	C	4: 94,506,271 (GRCm39)	I18T	probably benign	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Nphs2	G	A	1: 156,140,592 (GRCm39)	A110T	probably benign	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or5t7	A	G	2: 86,506,831 (GRCm39)	M282T	probably damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tox3	A	C	8: 90,996,864 (GRCm39)	L133R	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	probably benign	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
IGL02512:Tinag	APN	9	76,939,069 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGCATGCACATGAATTCACC -3'
(R):5'- ACATCAATCATAACTGAGATGGGTC -3'

Sequencing Primer
(F):5'- GCACATGAATTCACCTGTAAAAAG -3'
(R):5'- CTGAGATGGGTCAAATTCTAGACTAG -3'

Posted On

2022-06-15