Mutagenetix > Incidental Mutation

Incidental Mutation 'R2096:Tlnrd1'

232109

Institutional Source

Beutler Lab

Gene Symbol

Tlnrd1

Ensembl Gene

ENSMUSG00000070462

Gene Name

talin rod domain containing 1

Synonyms

Mesdc1

MMRRC Submission

040100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R2096 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83529703-83533549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83532062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 123 (T123I)

Ref Sequence

ENSEMBL: ENSMUSP00000091769 (fasta)

Gene Model

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

AlphaFold

Q9ERE8

Predicted Effect

probably benign
Transcript: ENSMUST00000094216
AA Change: T123I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: T123I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,709,195 (GRCm39)	S120P	probably benign	Het
Actr3b	T	A	5: 26,036,743 (GRCm39)	Y185*	probably null	Het
Atg101	T	A	15: 101,188,382 (GRCm39)	H162Q	possibly damaging	Het
Btf3	T	A	13: 98,449,659 (GRCm39)	Q109L	possibly damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Capn7	T	G	14: 31,071,844 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,155,537 (GRCm39)	V17A	probably benign	Het
Cenpf	A	G	1: 189,385,656 (GRCm39)	V2208A	possibly damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Comp	T	C	8: 70,828,713 (GRCm39)	C182R	probably damaging	Het
Ctsl	A	G	13: 64,516,840 (GRCm39)		probably null	Het
Cyp3a44	G	T	5: 145,725,215 (GRCm39)	Q329K	probably damaging	Het
Dcpp1	A	T	17: 24,099,971 (GRCm39)		probably null	Het
Dhx38	A	G	8: 110,280,891 (GRCm39)	V831A	probably damaging	Het
Dkk2	T	C	3: 131,791,858 (GRCm39)	M22T	probably benign	Het
Dnah2	C	T	11: 69,346,742 (GRCm39)	E2615K	probably damaging	Het
Dpy19l3	A	G	7: 35,426,713 (GRCm39)		probably null	Het
Gm12888	T	G	4: 121,176,655 (GRCm39)	I49L	probably benign	Het
Insyn2b	C	A	11: 34,352,936 (GRCm39)	S326Y	probably benign	Het
Kif15	T	A	9: 122,815,252 (GRCm39)	M194K	probably damaging	Het
Mael	G	T	1: 166,053,244 (GRCm39)	Q254K	probably benign	Het
Nek9	T	C	12: 85,361,322 (GRCm39)	D461G	probably benign	Het
Nlrp12	T	C	7: 3,281,825 (GRCm39)	N819S	probably benign	Het
Ntng1	T	A	3: 109,739,871 (GRCm39)	N390Y	probably damaging	Het
Or5g25	A	G	2: 85,478,434 (GRCm39)	I77T	probably benign	Het
P2ry14	C	T	3: 59,022,738 (GRCm39)	V250I	probably damaging	Het
Pcnx2	A	T	8: 126,485,987 (GRCm39)	D1870E	probably benign	Het
Phf2	T	A	13: 48,985,589 (GRCm39)	K64*	probably null	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Ppa2	A	G	3: 133,032,445 (GRCm39)	T97A	probably damaging	Het
Psd	G	A	19: 46,313,088 (GRCm39)		probably null	Het
Psg23	T	A	7: 18,348,668 (GRCm39)	E46D	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab11b	A	G	17: 33,967,976 (GRCm39)	Y74H	probably damaging	Het
Rfc3	A	T	5: 151,568,383 (GRCm39)	S194R	probably benign	Het
Sema4d	A	T	13: 51,864,037 (GRCm39)	I414N	probably damaging	Het
Serpinb1a	A	T	13: 33,031,437 (GRCm39)	D120E	probably damaging	Het
Snai2	T	A	16: 14,524,861 (GRCm39)	H122Q	possibly damaging	Het
Spats2l	T	C	1: 57,985,458 (GRCm39)	S504P	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Sspo	G	T	6: 48,438,608 (GRCm39)	V1559L	probably benign	Het
Tas2r118	T	G	6: 23,969,912 (GRCm39)	I50L	possibly damaging	Het
Tdrd3	C	T	14: 87,743,788 (GRCm39)	Q573*	probably null	Het
Thoc2l	T	C	5: 104,667,835 (GRCm39)	S786P	possibly damaging	Het
Tmem214	T	A	5: 31,033,714 (GRCm39)	L555H	probably damaging	Het
Tmprss12	T	A	15: 100,183,117 (GRCm39)	M153K	probably benign	Het
Tmprss9	G	A	10: 80,725,268 (GRCm39)	G410S	probably damaging	Het
Trpm6	T	A	19: 18,803,116 (GRCm39)	M853K	probably damaging	Het
Vmn1r35	A	G	6: 66,655,929 (GRCm39)	I247T	possibly damaging	Het
Zcchc7	C	A	4: 44,931,059 (GRCm39)	P404T	probably damaging	Het
Zzef1	T	C	11: 72,763,465 (GRCm39)	F1371L	probably benign	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
R2358:Tlnrd1	UTSW	7	83,531,488 (GRCm39)	missense	probably benign	0.00
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'- AACAGCTGTGGGGTCATGTC -3'
(R):5'- ATCTGTGATCACTGCAAGGG -3'

Sequencing Primer
(F):5'- TCATGTCCGCCAGTGGG -3'
(R):5'- GACCTGCTGCTGCTGTCTAG -3'

Posted On

2014-09-18