Mutagenetix > Incidental Mutation

Incidental Mutation 'R5110:Tinag'

393807

Institutional Source

Beutler Lab

Gene Symbol

Tinag

Ensembl Gene

ENSMUSG00000032357

Gene Name

tubulointerstitial nephritis antigen

Synonyms

TIN-ag

MMRRC Submission

042698-MU

Accession Numbers

Essential gene?

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

Stock #

R5110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76858975-76953076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76859289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 440 (S440P)

Ref Sequence

ENSEMBL: ENSMUSP00000034911 (fasta)

Gene Model

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

AlphaFold

Q9WUR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034911
AA Change: S440P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034911
Gene: ENSMUSG00000032357
AA Change: S440P

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

Meta Mutation Damage Score

0.3525

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

100% (61/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,057,987 (GRCm39)		probably null	Het
2310016G11Rik	G	A	7: 44,327,286 (GRCm39)		noncoding transcript	Het
Abi2	G	A	1: 60,489,280 (GRCm39)	V98I	probably benign	Het
Adam21	T	C	12: 81,606,989 (GRCm39)	T258A	probably benign	Het
Adam33	A	T	2: 130,895,690 (GRCm39)	C542S	probably damaging	Het
Adamts15	A	G	9: 30,832,740 (GRCm39)	V265A	probably benign	Het
Ahnak	A	T	19: 8,992,123 (GRCm39)	D4469V	probably damaging	Het
Aicda	A	G	6: 122,538,144 (GRCm39)	N101D	probably benign	Het
Als2	A	T	1: 59,224,600 (GRCm39)	D1040E	probably damaging	Het
Car15	T	C	16: 17,653,211 (GRCm39)	R319G	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Col1a1	T	C	11: 94,832,419 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,378,374 (GRCm39)	*594W	probably null	Het
Cwf19l2	A	G	9: 3,450,012 (GRCm39)		probably null	Het
Dctn4	C	T	18: 60,679,387 (GRCm39)	P236S	probably damaging	Het
Dennd2b	A	G	7: 109,141,697 (GRCm39)	S556P	probably benign	Het
Ehmt1	C	A	2: 24,742,802 (GRCm39)	C459F	probably benign	Het
Enox1	T	C	14: 77,945,127 (GRCm39)		probably null	Het
Fam136b-ps	A	G	15: 31,276,856 (GRCm39)		probably benign	Het
Fzd1	T	C	5: 4,806,448 (GRCm39)	D378G	probably benign	Het
Golga5	G	A	12: 102,438,336 (GRCm39)	R17Q	probably benign	Het
Hk1	A	T	10: 62,122,430 (GRCm39)	Y422N	probably damaging	Het
Hsf4	A	G	8: 105,999,427 (GRCm39)	D255G	probably benign	Het
Ift81	A	G	5: 122,689,121 (GRCm39)	V665A	probably benign	Het
Igkv13-84	T	C	6: 68,916,592 (GRCm39)	F3L	probably benign	Het
Kcnh1	T	A	1: 192,020,055 (GRCm39)	S433R	possibly damaging	Het
Ktn1	A	G	14: 47,941,744 (GRCm39)		probably benign	Het
Lrp4	A	T	2: 91,327,417 (GRCm39)	D1471V	possibly damaging	Het
Macf1	A	T	4: 123,261,801 (GRCm39)	D6990E	probably damaging	Het
Map3k6	G	A	4: 132,974,859 (GRCm39)		probably benign	Het
Miox	T	A	15: 89,219,759 (GRCm39)	D82E	probably benign	Het
Or4n5	T	G	14: 50,133,032 (GRCm39)	I76L	possibly damaging	Het
Ovgp1	G	C	3: 105,885,099 (GRCm39)	R133P	probably damaging	Het
Per2	G	A	1: 91,357,237 (GRCm39)	T642I	possibly damaging	Het
Pparg	T	C	6: 115,449,964 (GRCm39)	V321A	probably damaging	Het
Pptc7	T	A	5: 122,446,312 (GRCm39)	N17K	probably benign	Het
Prpf19	T	C	19: 10,876,651 (GRCm39)		probably benign	Het
Rai14	T	C	15: 10,690,496 (GRCm39)		probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Sbf2	T	A	7: 109,963,864 (GRCm39)	T994S	probably benign	Het
Slc1a1	G	A	19: 28,889,208 (GRCm39)	E494K	probably benign	Het
Smarcc1	A	G	9: 110,026,852 (GRCm39)	K771E	possibly damaging	Het
Stim1	T	C	7: 101,917,629 (GRCm39)	V3A	unknown	Het
Syne3	G	A	12: 104,909,629 (GRCm39)	R736C	probably benign	Het
Synj2	T	C	17: 6,087,990 (GRCm39)	V986A	probably benign	Het
Tshz2	A	G	2: 169,726,117 (GRCm39)	T238A	possibly damaging	Het
Ttc8	T	C	12: 98,908,562 (GRCm39)	M17T	probably benign	Het
Tubgcp5	G	A	7: 55,458,385 (GRCm39)	R432Q	probably damaging	Het
Ugt1a10	T	A	1: 87,983,974 (GRCm39)		probably null	Het
Usp4	T	A	9: 108,239,877 (GRCm39)	I202N	probably damaging	Het
Vmn1r194	T	G	13: 22,429,170 (GRCm39)	S262R	probably benign	Het
Vmn2r101	T	C	17: 19,831,897 (GRCm39)	F631S	possibly damaging	Het
Vps13b	T	A	15: 35,770,955 (GRCm39)	S2133T	probably damaging	Het
Zfp13	C	A	17: 23,799,834 (GRCm39)	V77F	probably benign	Het
Zscan10	T	A	17: 23,828,606 (GRCm39)	C306S	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
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
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'- GGAACCTTGGATTGCTAAAATTCG -3'
(R):5'- TTGCCAGTGAATCCGTGCAG -3'

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

Posted On

2016-06-15