Mutagenetix > Incidental Mutation

Incidental Mutation 'R2358:Tlnrd1'

247013

Institutional Source

Beutler Lab

Gene Symbol

Tlnrd1

Ensembl Gene

ENSMUSG00000070462

Gene Name

talin rod domain containing 1

Synonyms

Mesdc1

MMRRC Submission

040340-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R2358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83529703-83533549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83531488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 314 (D314E)

Ref Sequence

ENSEMBL: ENSMUSP00000091769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094216]

AlphaFold

Q9ERE8

Predicted Effect

probably benign
Transcript: ENSMUST00000094216
AA Change: D314E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: D314E

Domain	Start	End	E-Value	Type
low complexity region	9	29	N/A	INTRINSIC
PDB:2X0C\|A	37	320	1e-21	PDB
Blast:MA	100	258	1e-5	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207920

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Ankzf1	C	T	1: 75,171,895 (GRCm39)	H209Y	probably damaging	Het
Ate1	A	T	7: 130,117,895 (GRCm39)	M30K	probably damaging	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Cela1	A	G	15: 100,579,109 (GRCm39)	I183T	probably benign	Het
Copg2	A	T	6: 30,803,168 (GRCm39)	L259*	probably null	Het
Dennd2b	A	T	7: 109,155,653 (GRCm39)	S366T	probably benign	Het
Efcab7	T	A	4: 99,719,823 (GRCm39)		probably benign	Het
Fcrl5	A	G	3: 87,353,726 (GRCm39)	E357G	probably damaging	Het
Fzr1	C	T	10: 81,203,474 (GRCm39)		probably null	Het
Il12rb2	C	T	6: 67,275,179 (GRCm39)	A649T	probably damaging	Het
Itfg1	C	A	8: 86,464,758 (GRCm39)	V438F	probably damaging	Het
Jaml	A	C	9: 45,012,361 (GRCm39)	I283L	possibly damaging	Het
Kif28	A	T	1: 179,537,024 (GRCm39)	H486Q	probably damaging	Het
Lrch4	A	G	5: 137,636,810 (GRCm39)		probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mrpl32	A	T	13: 14,785,165 (GRCm39)	V157E	probably damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nlrp4a	A	G	7: 26,163,623 (GRCm39)	D930G	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or7a35	T	C	10: 78,854,022 (GRCm39)	F289L	probably damaging	Het
Ovch2	A	T	7: 107,394,122 (GRCm39)	H110Q	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Ptpn12	G	A	5: 21,203,690 (GRCm39)	P363S	probably damaging	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,825,785 (GRCm39)		probably benign	Het
Rpl13-ps3	A	G	14: 59,131,265 (GRCm39)		noncoding transcript	Het
Sap18b	G	A	8: 96,552,191 (GRCm39)	R67H	probably benign	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Shmt2	T	C	10: 127,353,897 (GRCm39)	T459A	probably benign	Het
Siglecg	A	G	7: 43,058,846 (GRCm39)	S200G	possibly damaging	Het
Slc6a15	T	G	10: 103,252,646 (GRCm39)	I603S	probably benign	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Spata31d1a	G	A	13: 59,851,702 (GRCm39)	S142L	probably benign	Het
Spopfm2	G	A	3: 94,082,854 (GRCm39)	A319V	possibly damaging	Het
Spopfm2	C	A	3: 94,082,855 (GRCm39)	A319S	possibly damaging	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Strip1	A	G	3: 107,523,135 (GRCm39)	V633A	probably benign	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Terb2	T	A	2: 122,028,913 (GRCm39)	C157S	probably benign	Het
Themis	T	A	10: 28,739,376 (GRCm39)	N615K	possibly damaging	Het
Vmn1r205	T	A	13: 22,776,566 (GRCm39)	T179S	probably benign	Het
Vsig10l	G	A	7: 43,118,185 (GRCm39)	R689H	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Zfp423	G	T	8: 88,507,179 (GRCm39)	A1034D	possibly damaging	Het
Zfy2	T	C	Y: 2,107,272 (GRCm39)	E454G	possibly damaging	Het
Zyg11a	G	T	4: 108,053,343 (GRCm39)	Q440K	possibly damaging	Het

Other mutations in Tlnrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Tlnrd1	APN	7	83,532,054 (GRCm39)	missense	probably damaging	1.00
IGL02662:Tlnrd1	APN	7	83,531,744 (GRCm39)	missense	probably damaging	1.00
IGL02662:Tlnrd1	APN	7	83,532,027 (GRCm39)	missense	possibly damaging	0.94
Danken	UTSW	7	83,531,838 (GRCm39)	missense	probably damaging	0.97
fallt	UTSW	7	83,531,987 (GRCm39)	missense	probably damaging	1.00
R2096:Tlnrd1	UTSW	7	83,532,062 (GRCm39)	missense	probably benign	0.05
R5429:Tlnrd1	UTSW	7	83,531,522 (GRCm39)	missense	probably damaging	1.00
R5910:Tlnrd1	UTSW	7	83,533,693 (GRCm39)	unclassified	probably benign
R6004:Tlnrd1	UTSW	7	83,531,987 (GRCm39)	missense	probably damaging	1.00
R6931:Tlnrd1	UTSW	7	83,531,805 (GRCm39)	missense	probably benign	0.15
R7000:Tlnrd1	UTSW	7	83,531,987 (GRCm39)	missense	probably damaging	1.00
R7481:Tlnrd1	UTSW	7	83,531,546 (GRCm39)	missense	probably damaging	1.00
R7587:Tlnrd1	UTSW	7	83,532,155 (GRCm39)	missense	probably damaging	0.98
R7598:Tlnrd1	UTSW	7	83,531,838 (GRCm39)	missense	probably damaging	0.97
R8047:Tlnrd1	UTSW	7	83,532,069 (GRCm39)	missense	probably damaging	0.99
R8776:Tlnrd1	UTSW	7	83,532,316 (GRCm39)	missense	probably benign	0.01
R8776-TAIL:Tlnrd1	UTSW	7	83,532,316 (GRCm39)	missense	probably benign	0.01
R9366:Tlnrd1	UTSW	7	83,531,582 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTTAGCCTGGGGTGGAAAACAG -3'
(R):5'- TAGCATGCGTACGCGAAGTG -3'

Sequencing Primer
(F):5'- CCTGGGGTGGAAAACAGGTATAG -3'
(R):5'- CTCTTCAGTGGGCCCTTGG -3'

Posted On

2014-10-30