Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Tle4'

217341

Institutional Source

Beutler Lab

Gene Symbol

Tle4

Ensembl Gene

ENSMUSG00000024642

Gene Name

transducin-like enhancer of split 4

Synonyms

Bce1, Grg4, ESTM14, ESTM13, 5730411M05Rik

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14425514-14575415 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 14493721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052011] [ENSMUST00000167776]

AlphaFold

Q62441

Predicted Effect

probably null
Transcript: ENSMUST00000052011

SMART Domains

Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642

Domain	Start	End	E-Value	Type
Pfam:TLE_N	8	138	9.1e-76	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC
low complexity region	226	238	N/A	INTRINSIC
low complexity region	289	316	N/A	INTRINSIC
WD40	477	514	4.18e-2	SMART
WD40	520	561	3.64e-2	SMART
WD40	566	605	9.38e-5	SMART
WD40	608	647	1.14e-8	SMART
WD40	650	688	2.29e1	SMART
WD40	690	729	7.39e-3	SMART
WD40	730	770	4.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167776

SMART Domains

Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642

Domain	Start	End	E-Value	Type
Pfam:TLE_N	8	138	5.1e-76	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	199	216	N/A	INTRINSIC
low complexity region	226	238	N/A	INTRINSIC
low complexity region	289	316	N/A	INTRINSIC
WD40	477	514	4.18e-2	SMART
WD40	520	561	3.64e-2	SMART
WD40	566	605	9.38e-5	SMART
WD40	608	647	1.14e-8	SMART
WD40	650	688	2.29e1	SMART
WD40	690	729	7.39e-3	SMART
WD40	730	770	4.14e-1	SMART

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	probably damaging	Het

Other mutations in Tle4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Tle4	APN	19	14,445,625 (GRCm39)	missense	probably benign	0.00
IGL01449:Tle4	APN	19	14,442,704 (GRCm39)	missense	probably benign	0.00
IGL01618:Tle4	APN	19	14,522,178 (GRCm39)	missense	probably benign	0.07
IGL01636:Tle4	APN	19	14,429,897 (GRCm39)	missense	probably damaging	0.97
IGL01750:Tle4	APN	19	14,427,153 (GRCm39)	missense	probably damaging	1.00
IGL02376:Tle4	APN	19	14,571,768 (GRCm39)	missense	probably damaging	1.00
BB006:Tle4	UTSW	19	14,495,244 (GRCm39)	missense	probably benign	0.09
BB016:Tle4	UTSW	19	14,495,244 (GRCm39)	missense	probably benign	0.09
R0006:Tle4	UTSW	19	14,444,078 (GRCm39)	splice site	probably benign
R1068:Tle4	UTSW	19	14,429,543 (GRCm39)	missense	probably damaging	1.00
R1174:Tle4	UTSW	19	14,445,626 (GRCm39)	missense	probably benign
R1594:Tle4	UTSW	19	14,430,970 (GRCm39)	nonsense	probably null
R1671:Tle4	UTSW	19	14,431,103 (GRCm39)	missense	probably damaging	1.00
R1891:Tle4	UTSW	19	14,522,150 (GRCm39)	critical splice donor site	probably null
R2068:Tle4	UTSW	19	14,427,113 (GRCm39)	nonsense	probably null
R3858:Tle4	UTSW	19	14,445,577 (GRCm39)	missense	probably benign	0.11
R3859:Tle4	UTSW	19	14,445,577 (GRCm39)	missense	probably benign	0.11
R3946:Tle4	UTSW	19	14,574,752 (GRCm39)	missense	probably damaging	0.98
R4357:Tle4	UTSW	19	14,445,625 (GRCm39)	missense	probably benign	0.00
R4395:Tle4	UTSW	19	14,495,302 (GRCm39)	missense	probably benign	0.20
R4491:Tle4	UTSW	19	14,432,229 (GRCm39)	missense	probably damaging	1.00
R4860:Tle4	UTSW	19	14,441,709 (GRCm39)	missense	probably benign	0.30
R4860:Tle4	UTSW	19	14,441,709 (GRCm39)	missense	probably benign	0.30
R5336:Tle4	UTSW	19	14,432,103 (GRCm39)	critical splice donor site	probably null
R5516:Tle4	UTSW	19	14,432,253 (GRCm39)	missense	probably damaging	0.99
R5611:Tle4	UTSW	19	14,427,159 (GRCm39)	missense	probably damaging	1.00
R6032:Tle4	UTSW	19	14,429,472 (GRCm39)	missense	possibly damaging	0.74
R6032:Tle4	UTSW	19	14,429,472 (GRCm39)	missense	possibly damaging	0.74
R6113:Tle4	UTSW	19	14,572,952 (GRCm39)	critical splice donor site	probably null
R6513:Tle4	UTSW	19	14,429,056 (GRCm39)	missense	probably damaging	0.99
R6995:Tle4	UTSW	19	14,541,817 (GRCm39)	critical splice acceptor site	probably null
R7175:Tle4	UTSW	19	14,429,071 (GRCm39)	missense	probably damaging	1.00
R7310:Tle4	UTSW	19	14,495,155 (GRCm39)	missense	probably benign	0.04
R7929:Tle4	UTSW	19	14,495,244 (GRCm39)	missense	probably benign	0.09
R8369:Tle4	UTSW	19	14,429,876 (GRCm39)	missense	probably benign	0.03
R8396:Tle4	UTSW	19	14,432,323 (GRCm39)	nonsense	probably null
R8847:Tle4	UTSW	19	14,493,737 (GRCm39)	nonsense	probably null
R9145:Tle4	UTSW	19	14,445,583 (GRCm39)	missense	probably benign
R9279:Tle4	UTSW	19	14,429,890 (GRCm39)	missense	probably damaging	1.00
R9327:Tle4	UTSW	19	14,574,149 (GRCm39)	missense	probably damaging	1.00
R9786:Tle4	UTSW	19	14,495,304 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCACTGCAGTATCTTAAAGCAGTTAC -3'
(R):5'- AAAGGTGAACCAGTGCTTTGTG -3'

Sequencing Primer
(F):5'- TGAGCAATCCATTTGTGTTCTAC -3'
(R):5'- GAACCAGTGCTTTGTGAATTTTG -3'

Posted On

2014-08-01