Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Eomes'

240548

Institutional Source

Beutler Lab

Gene Symbol

Eomes

Ensembl Gene

ENSMUSG00000032446

Gene Name

eomesodermin

Synonyms

Tbr2

MMRRC Submission

040239-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118307259-118315176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118311359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 394 (D394G)

Ref Sequence

ENSEMBL: ENSMUSP00000118079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035020] [ENSMUST00000111763] [ENSMUST00000150633]

AlphaFold

O54839

Predicted Effect

probably damaging
Transcript: ENSMUST00000035020
AA Change: D461G

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

SMART Domains

Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: D461G

Domain	Start	End	E-Value	Type
low complexity region	73	96	N/A	INTRINSIC
low complexity region	127	134	N/A	INTRINSIC
low complexity region	211	240	N/A	INTRINSIC
low complexity region	246	266	N/A	INTRINSIC
TBOX	268	463	7.3e-120	SMART
Pfam:T-box_assoc	484	705	1.6e-101	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111763
AA Change: D461G

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

SMART Domains

Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: D461G

Domain	Start	End	E-Value	Type
low complexity region	73	96	N/A	INTRINSIC
low complexity region	127	134	N/A	INTRINSIC
low complexity region	211	240	N/A	INTRINSIC
low complexity region	246	266	N/A	INTRINSIC
TBOX	268	463	5.53e-120	SMART
Blast:TBOX	485	511	6e-8	BLAST
low complexity region	648	659	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000150633
AA Change: D394G

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

SMART Domains

Protein: ENSMUSP00000118079
Gene: ENSMUSG00000032446
AA Change: D394G

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	60	67	N/A	INTRINSIC
low complexity region	144	173	N/A	INTRINSIC
low complexity region	179	199	N/A	INTRINSIC
TBOX	201	395	8.01e-117	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212286

Meta Mutation Damage Score

0.4662

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality, fail to implant, and lack trophoectoderm outgrowth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Map7	A	T	10: 20,154,028 (GRCm39)	N715Y	unknown	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	Het

Other mutations in Eomes

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Eomes	APN	9	118,311,334 (GRCm39)	missense	probably damaging	1.00
IGL01322:Eomes	APN	9	118,313,898 (GRCm39)	missense	probably benign	0.14
IGL01532:Eomes	APN	9	118,311,317 (GRCm39)	missense	probably damaging	1.00
R0088:Eomes	UTSW	9	118,307,741 (GRCm39)	missense	probably damaging	0.99
R0305:Eomes	UTSW	9	118,313,825 (GRCm39)	missense	probably benign	0.11
R0894:Eomes	UTSW	9	118,311,368 (GRCm39)	splice site	probably null
R1110:Eomes	UTSW	9	118,313,667 (GRCm39)	missense	probably benign	0.29
R1326:Eomes	UTSW	9	118,313,565 (GRCm39)	nonsense	probably null
R1942:Eomes	UTSW	9	118,313,716 (GRCm39)	missense	probably benign	0.01
R2108:Eomes	UTSW	9	118,307,920 (GRCm39)	missense	probably benign	0.09
R2237:Eomes	UTSW	9	118,311,359 (GRCm39)	missense	probably damaging	1.00
R2238:Eomes	UTSW	9	118,311,359 (GRCm39)	missense	probably damaging	1.00
R3915:Eomes	UTSW	9	118,310,341 (GRCm39)	missense	probably benign	0.01
R4158:Eomes	UTSW	9	118,308,031 (GRCm39)	missense	probably benign
R5274:Eomes	UTSW	9	118,309,597 (GRCm39)	missense	probably damaging	1.00
R6894:Eomes	UTSW	9	118,310,353 (GRCm39)	missense	probably damaging	1.00
R7055:Eomes	UTSW	9	118,309,567 (GRCm39)	missense	possibly damaging	0.57
R7115:Eomes	UTSW	9	118,313,557 (GRCm39)	missense	probably benign	0.00
R7962:Eomes	UTSW	9	118,307,574 (GRCm39)	unclassified	probably benign
R8053:Eomes	UTSW	9	118,309,621 (GRCm39)	missense	probably damaging	1.00
R8346:Eomes	UTSW	9	118,314,036 (GRCm39)	missense	probably benign	0.07
R9060:Eomes	UTSW	9	118,311,364 (GRCm39)	makesense	probably null
R9409:Eomes	UTSW	9	118,314,069 (GRCm39)	missense	probably benign	0.23
R9443:Eomes	UTSW	9	118,313,640 (GRCm39)	missense
X0021:Eomes	UTSW	9	118,311,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTTCATCGCTGTGACGG -3'
(R):5'- GGGCTCGAAGATGAAACTCC -3'

Sequencing Primer
(F):5'- GGCCTACCAAAACACGGATGTG -3'
(R):5'- GATTGTCTAGCTCACACAAAGCCTG -3'

Posted On

2014-10-15