Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Tinag'

275111

Institutional Source

Beutler Lab

Gene Symbol

Tinag

Ensembl Gene

ENSMUSG00000032357

Gene Name

tubulointerstitial nephritis antigen

Synonyms

TIN-ag

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

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

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76858975-76953076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76859187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 474 (D474N)

Ref Sequence

ENSEMBL: ENSMUSP00000034911 (fasta)

Gene Model

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

AlphaFold

Q9WUR0

Predicted Effect

probably benign
Transcript: ENSMUST00000034911
AA Change: D474N

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: D474N

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,385,650 (GRCm39)	Y105C	possibly damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Apol7e	A	T	15: 77,602,262 (GRCm39)	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057 (GRCm39)	N561K	probably benign	Het
Armc3	G	T	2: 19,305,476 (GRCm39)	A757S	probably damaging	Het
Baz2b	A	T	2: 59,799,240 (GRCm39)	S295T	probably benign	Het
Brd4	T	A	17: 32,430,244 (GRCm39)	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,727,202 (GRCm39)	T443A	probably benign	Het
Cacna1g	T	C	11: 94,306,922 (GRCm39)	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,310,555 (GRCm39)	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Cog1	G	T	11: 113,545,836 (GRCm39)	M370I	probably benign	Het
Col6a6	C	G	9: 105,657,891 (GRCm39)	V774L	probably damaging	Het
Csf1r	T	A	18: 61,245,836 (GRCm39)	S264R	probably benign	Het
Ctnna2	A	T	6: 76,931,740 (GRCm39)	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,300,690 (GRCm39)	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,647,113 (GRCm39)	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,418,113 (GRCm39)	F94S	probably damaging	Het
Hlf	T	C	11: 90,278,929 (GRCm39)	D45G	probably benign	Het
Hps3	A	T	3: 20,072,976 (GRCm39)	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,140,174 (GRCm39)	Y79H	probably damaging	Het
Ip6k1	T	A	9: 107,923,086 (GRCm39)	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Itga11	A	G	9: 62,678,664 (GRCm39)	T944A	probably benign	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,614,136 (GRCm39)	R195G	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,146,801 (GRCm39)	I2821T	possibly damaging	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or2a25	A	T	6: 42,889,271 (GRCm39)	K271N	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Or56b1	A	T	7: 104,285,540 (GRCm39)	I220L	possibly damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Pfdn1	C	T	18: 36,584,145 (GRCm39)	G63D	probably damaging	Het
Pgghg	T	C	7: 140,525,208 (GRCm39)	F405L	probably damaging	Het
Plcd3	T	C	11: 102,992,209 (GRCm39)	M50V	probably null	Het
Plekha8	C	A	6: 54,596,334 (GRCm39)	S198R	probably benign	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rnf217	T	A	10: 31,379,804 (GRCm39)	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,331,825 (GRCm39)	N63K	possibly damaging	Het
Sik3	A	G	9: 46,130,784 (GRCm39)	D1240G	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc2a3	A	G	6: 122,709,388 (GRCm39)	I337T	probably benign	Het
Tent4a	A	G	13: 69,661,115 (GRCm39)	V51A	probably damaging	Het
Ublcp1	A	G	11: 44,349,109 (GRCm39)	F242L	probably benign	Het
Ucp1	C	A	8: 84,017,270 (GRCm39)	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,023,104 (GRCm39)	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,458,780 (GRCm39)	D45G	probably damaging	Het
Zfp592	G	A	7: 80,674,280 (GRCm39)	A415T	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGGAACTTTAATGACATTTAGCC -3'
(R):5'- TCTTGCCAGTGAATCCGTG -3'

Sequencing Primer
(F):5'- GTCCTACGCACATAGCAA -3'
(R):5'- AATCCGTGCAGGGATATTAATGTG -3'

Posted On

2015-04-02