Mutagenetix > Incidental Mutation

Incidental Mutation 'R0732:Tinag'

67662

Institutional Source

Beutler Lab

Gene Symbol

Tinag

Ensembl Gene

ENSMUSG00000032357

Gene Name

tubulointerstitial nephritis antigen

Synonyms

TIN-ag

MMRRC Submission

038913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76858975-76953076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76908936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 335 (K335M)

Ref Sequence

ENSEMBL: ENSMUSP00000034911 (fasta)

Gene Model

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

AlphaFold

Q9WUR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034911
AA Change: K335M

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: K335M

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: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,523,411 (GRCm39)	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,373,057 (GRCm39)	S187P	probably benign	Het
Adam28	T	C	14: 68,874,796 (GRCm39)	I294V	probably benign	Het
Adgrv1	T	C	13: 81,651,123 (GRCm39)	I3057M	possibly damaging	Het
Aff4	T	C	11: 53,266,423 (GRCm39)	V304A	probably benign	Het
Akr1b10	T	C	6: 34,367,044 (GRCm39)	Y108H	probably benign	Het
Ankib1	T	C	5: 3,763,163 (GRCm39)	N522S	possibly damaging	Het
Ano1	T	A	7: 144,173,225 (GRCm39)		probably null	Het
Antxr2	G	T	5: 98,108,567 (GRCm39)		probably null	Het
Arc	G	A	15: 74,543,044 (GRCm39)	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,688,783 (GRCm39)	D5G	possibly damaging	Het
Atf2	A	T	2: 73,675,844 (GRCm39)	M169K	possibly damaging	Het
BC005624	T	A	2: 30,863,949 (GRCm39)	T215S	possibly damaging	Het
Bmp8b	G	A	4: 122,999,199 (GRCm39)	G19D	unknown	Het
Cacna1d	T	C	14: 29,764,877 (GRCm39)	N1987S	probably damaging	Het
Camta1	T	A	4: 151,670,941 (GRCm39)		probably null	Het
Catsperg2	C	T	7: 29,400,121 (GRCm39)	G316D	probably damaging	Het
Cbs	G	T	17: 31,844,003 (GRCm39)	N209K	probably benign	Het
Ccdc122	T	A	14: 77,329,199 (GRCm39)	M84K	probably damaging	Het
Cd5	C	T	19: 10,700,649 (GRCm39)	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,795,419 (GRCm39)	M1T	probably null	Het
Coch	T	A	12: 51,642,155 (GRCm39)	D42E	probably damaging	Het
Crip2	C	T	12: 113,104,178 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,346,234 (GRCm39)	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,536,529 (GRCm39)	I319T	probably damaging	Het
Ddhd2	T	C	8: 26,231,348 (GRCm39)	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,324,412 (GRCm39)		probably null	Het
Exoc6b	C	A	6: 84,832,504 (GRCm39)	V397L	probably damaging	Het
Fam83b	T	A	9: 76,400,210 (GRCm39)	K298*	probably null	Het
Fbxo8	T	A	8: 57,044,564 (GRCm39)	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,855,089 (GRCm39)	M536K	probably benign	Het
Flot1	C	T	17: 36,136,416 (GRCm39)	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,312,739 (GRCm39)	V374E	probably benign	Het
Gna15	T	A	10: 81,348,390 (GRCm39)	S114C	probably damaging	Het
Gstt4	T	A	10: 75,653,155 (GRCm39)	T136S	probably benign	Het
Hcn3	C	T	3: 89,056,093 (GRCm39)	V524M	probably damaging	Het
Kctd16	A	T	18: 40,391,616 (GRCm39)	D68V	probably damaging	Het
Kics2	T	C	10: 121,586,852 (GRCm39)	V253A	possibly damaging	Het
Krt90	G	T	15: 101,468,860 (GRCm39)	F227L	possibly damaging	Het
Lrrc37	T	C	11: 103,510,664 (GRCm39)	T435A	unknown	Het
Maip1	A	G	1: 57,450,994 (GRCm39)	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,356,233 (GRCm39)	D72N	probably damaging	Het
Marveld3	A	T	8: 110,675,115 (GRCm39)	Y234N	probably damaging	Het
Mas1	A	G	17: 13,060,634 (GRCm39)	I263T	probably benign	Het
Matk	T	A	10: 81,094,140 (GRCm39)		probably null	Het
Mrgpre	T	A	7: 143,335,303 (GRCm39)	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,340,948 (GRCm39)	I449N	probably damaging	Het
Nacc1	C	T	8: 85,402,830 (GRCm39)	R321Q	probably damaging	Het
Neb	T	C	2: 52,148,693 (GRCm39)	D2618G	probably damaging	Het
Neb	T	C	2: 52,181,280 (GRCm39)	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,506,135 (GRCm39)	W781G	probably damaging	Het
Or4g16	T	A	2: 111,137,325 (GRCm39)	Y258*	probably null	Het
Or4x6	A	G	2: 89,949,666 (GRCm39)	V92A	probably benign	Het
Or52d1	T	C	7: 103,755,501 (GRCm39)	L5P	probably damaging	Het
Or55b4	T	C	7: 102,133,650 (GRCm39)	I226V	probably benign	Het
Or5p72	C	A	7: 108,021,784 (GRCm39)	A2D	probably benign	Het
Or6k4	A	T	1: 173,964,981 (GRCm39)	I224F	possibly damaging	Het
Or8s8	T	C	15: 98,354,959 (GRCm39)	L256S	possibly damaging	Het
Or8u10	A	C	2: 85,915,928 (GRCm39)	S64R	probably benign	Het
Pcdh7	C	A	5: 57,878,657 (GRCm39)	D737E	probably damaging	Het
Pdss1	T	G	2: 22,791,324 (GRCm39)	M55R	probably benign	Het
Pex6	C	T	17: 47,035,626 (GRCm39)	R889W	probably damaging	Het
Pigl	T	A	11: 62,349,307 (GRCm39)	C8S	possibly damaging	Het
Plekha7	A	T	7: 115,744,472 (GRCm39)	M585K	probably damaging	Het
Ppp1r1a	C	T	15: 103,441,514 (GRCm39)	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,858,155 (GRCm39)		probably benign	Het
Rhov	A	T	2: 119,101,495 (GRCm39)	V37E	probably damaging	Het
Rnf213	A	T	11: 119,331,894 (GRCm39)	M2368L	probably damaging	Het
Skida1	T	C	2: 18,050,968 (GRCm39)		probably benign	Het
Slc25a28	T	C	19: 43,655,392 (GRCm39)	D161G	probably benign	Het
Smc6	T	C	12: 11,340,818 (GRCm39)	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,097,794 (GRCm39)		probably null	Het
Stk31	A	G	6: 49,394,429 (GRCm39)	T264A	probably benign	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,529,882 (GRCm39)	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,570,812 (GRCm39)	R220H	probably benign	Het
Tcf20	A	G	15: 82,736,504 (GRCm39)	L1649P	probably benign	Het
Tcirg1	A	T	19: 3,947,866 (GRCm39)	L523Q	possibly damaging	Het
Tkt	T	G	14: 30,293,097 (GRCm39)		probably null	Het
Tnpo1	C	T	13: 99,000,320 (GRCm39)	R349H	probably damaging	Het
Trim26	T	A	17: 37,163,510 (GRCm39)	S230R	possibly damaging	Het
Trim8	T	A	19: 46,503,178 (GRCm39)		probably null	Het
Trp53bp1	T	C	2: 121,078,745 (GRCm39)	R326G	probably null	Het
Ugt2a2	A	T	5: 87,608,498 (GRCm39)	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,530,690 (GRCm39)	I29V	probably benign	Het
Wnt5b	C	T	6: 119,423,543 (GRCm39)	W27*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCCTATAGCAAGGACCGAGGCAG -3'
(R):5'- GGTTGACATTTTCGAACTATGCAGGTGA -3'

Sequencing Primer
(F):5'- gacagacagacagacagacag -3'
(R):5'- TCGAACTATGCAGGTGAATAAATAGC -3'

Posted On

2013-09-03