Mutagenetix > Incidental Mutation

Incidental Mutation 'R8047:Tlnrd1'

618816

Institutional Source

Beutler Lab

Gene Symbol

Tlnrd1

Ensembl Gene

ENSMUSG00000070462

Gene Name

talin rod domain containing 1

Synonyms

Mesdc1

MMRRC Submission

067484-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R8047 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83529703-83533549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83532069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 121 (S121T)

Ref Sequence

ENSEMBL: ENSMUSP00000091769 (fasta)

Gene Model

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

AlphaFold

Q9ERE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094216
AA Change: S121T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: S121T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,427,817 (GRCm39)	T157I	possibly damaging	Het
Cd200l2	T	C	16: 45,340,829 (GRCm39)	I245V	probably benign	Het
Cdh22	G	A	2: 165,012,687 (GRCm39)	R133W	probably damaging	Het
Cep152	A	T	2: 125,406,247 (GRCm39)	N1428K	probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Coch	G	A	12: 51,650,496 (GRCm39)		probably null	Het
D6Ertd527e	G	T	6: 87,088,454 (GRCm39)	V206F	unknown	Het
Dnaaf9	A	T	2: 130,617,019 (GRCm39)	V439E	probably damaging	Het
Dock3	T	C	9: 106,870,208 (GRCm39)	I625M	possibly damaging	Het
Dpy19l4	A	G	4: 11,317,139 (GRCm39)	S20P	probably benign	Het
Eef1e1	T	C	13: 38,830,222 (GRCm39)	Q150R	probably damaging	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Engase	T	C	11: 118,377,282 (GRCm39)	S526P	probably benign	Het
Fbxo40	T	A	16: 36,790,231 (GRCm39)	D293V	probably damaging	Het
Gipc3	T	A	10: 81,177,132 (GRCm39)	N146I	probably damaging	Het
Gm11569	T	C	11: 99,689,616 (GRCm39)	T28A	unknown	Het
Gm43302	T	C	5: 105,422,623 (GRCm39)	I470V	possibly damaging	Het
Gpihbp1	A	G	15: 75,469,627 (GRCm39)	Q114R	possibly damaging	Het
Grhl2	T	A	15: 37,336,465 (GRCm39)	M454K	probably benign	Het
Gsap	A	T	5: 21,462,866 (GRCm39)		probably null	Het
Ighv6-5	T	C	12: 114,380,191 (GRCm39)		probably null	Het
Kif1b	C	A	4: 149,299,379 (GRCm39)	V1010L	probably damaging	Het
Krt8	A	T	15: 101,912,406 (GRCm39)	I90N	probably damaging	Het
Lrrc69	A	T	4: 14,773,726 (GRCm39)	I110N	probably benign	Het
Lta	T	C	17: 35,423,011 (GRCm39)	Y104C	probably damaging	Het
Madd	A	G	2: 91,009,546 (GRCm39)	Y13H	probably damaging	Het
Mccc2	C	T	13: 100,091,181 (GRCm39)	V439I	probably benign	Het
Mecom	T	A	3: 30,292,404 (GRCm39)	D35V		Het
Msra	C	T	14: 64,522,612 (GRCm39)	A76T	probably damaging	Het
Myo18b	G	T	5: 112,871,681 (GRCm39)	D2133E	possibly damaging	Het
Ncapd2	C	T	6: 125,166,762 (GRCm39)	V31M	probably damaging	Het
Npc1	A	G	18: 12,346,374 (GRCm39)	V274A	probably benign	Het
Or5m11b	T	C	2: 85,806,271 (GRCm39)	I228T	possibly damaging	Het
Patz1	C	T	11: 3,256,283 (GRCm39)	P523L	probably benign	Het
Pbx2	T	C	17: 34,814,262 (GRCm39)	S350P	probably benign	Het
Plk4	T	C	3: 40,760,187 (GRCm39)	I361T	probably benign	Het
Ppat	G	T	5: 77,073,557 (GRCm39)	N122K	probably damaging	Het
Prss23	T	A	7: 89,159,136 (GRCm39)	Q311L	probably damaging	Het
Psg26	G	T	7: 18,212,474 (GRCm39)	Q294K	possibly damaging	Het
Rab3il1	G	T	19: 10,011,166 (GRCm39)	R285L	probably benign	Het
Radil	A	G	5: 142,480,695 (GRCm39)	C587R	probably damaging	Het
Rd3	A	T	1: 191,709,620 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,927,221 (GRCm39)	L504P	probably damaging	Het
Rmc1	C	T	18: 12,313,586 (GRCm39)	T233M	possibly damaging	Het
Selenov	A	C	7: 27,990,108 (GRCm39)	L132R	probably benign	Het
Spag16	A	T	1: 69,882,155 (GRCm39)	D49V	probably damaging	Het
Ston2	C	T	12: 91,608,617 (GRCm39)	V828I	probably damaging	Het
Tiam1	A	G	16: 89,694,672 (GRCm39)	S262P	probably benign	Het
Unc13c	T	A	9: 73,719,636 (GRCm39)	K1011*	probably null	Het
Vmn2r89	T	A	14: 51,692,549 (GRCm39)	D117E	probably benign	Het
Zbtb7c	A	C	18: 76,270,221 (GRCm39)	N103T	probably damaging	Het
Zfp764	T	C	7: 127,005,412 (GRCm39)	E75G	probably 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
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
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'- TATCTGTGATCACTGCAAGGG -3'

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

Posted On

2020-01-23