Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01322:Eomes'

74096

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eomes

Ensembl Gene

ENSMUSG00000032446

Gene Name

eomesodermin

Synonyms

Tbr2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01322

Quality Score

Status

Chromosome

Chromosomal Location

118307259-118315176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118313898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 648 (S648P)

Ref Sequence

ENSEMBL: ENSMUSP00000035020 (fasta)

Gene Model

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

AlphaFold

O54839

Predicted Effect

probably benign
Transcript: ENSMUST00000035020
AA Change: S648P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: S648P

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 benign
Transcript: ENSMUST00000111763
AA Change: S629P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: S629P

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 benign
Transcript: ENSMUST00000150633

SMART Domains

Protein: ENSMUSP00000118079
Gene: ENSMUSG00000032446

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,038,422 (GRCm39)	L368Q	probably damaging	Het
Abca2	T	A	2: 25,336,794 (GRCm39)		probably null	Het
Ano7	T	A	1: 93,323,230 (GRCm39)	V497D	probably benign	Het
B4gat1	T	C	19: 5,090,037 (GRCm39)	Y345H	probably damaging	Het
Bckdha	T	A	7: 25,358,132 (GRCm39)	R12W	possibly damaging	Het
Bcl7c	T	A	7: 127,306,608 (GRCm39)	N93Y	probably damaging	Het
Cc2d2a	C	A	5: 43,846,345 (GRCm39)	T368K	probably benign	Het
Chek1	G	A	9: 36,629,717 (GRCm39)	Q210*	probably null	Het
Chrdl2	A	G	7: 99,666,248 (GRCm39)	Y56C	probably damaging	Het
Cspg4	T	A	9: 56,805,872 (GRCm39)	F2228I	probably damaging	Het
Dnah7a	T	C	1: 53,473,205 (GRCm39)	M3474V	probably benign	Het
Dph7	T	C	2: 24,855,629 (GRCm39)	S143P	possibly damaging	Het
Ehbp1	T	A	11: 22,039,636 (GRCm39)	K821N	probably damaging	Het
Fam20a	A	G	11: 109,573,738 (GRCm39)	V215A	probably damaging	Het
Fer1l4	T	A	2: 155,862,259 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,448,459 (GRCm39)	V2319A	probably benign	Het
Gtf3c4	T	C	2: 28,723,584 (GRCm39)	D575G	probably benign	Het
Ifit1bl2	A	G	19: 34,596,404 (GRCm39)	V404A	probably benign	Het
Kcnf1	T	C	12: 17,225,349 (GRCm39)	M291V	probably benign	Het
Klra1	T	A	6: 130,341,224 (GRCm39)	I250F	probably benign	Het
Klra4	T	A	6: 130,038,985 (GRCm39)	T136S	probably benign	Het
Mcrs1	A	T	15: 99,141,266 (GRCm39)	I399N	probably damaging	Het
Neo1	T	C	9: 58,814,368 (GRCm39)	E866G	possibly damaging	Het
Notch3	T	C	17: 32,363,445 (GRCm39)	D1206G	probably damaging	Het
Or10ab4	A	G	7: 107,654,188 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,115,480 (GRCm39)	I287N	probably damaging	Het
Or4z4	A	C	19: 12,076,769 (GRCm39)	V78G	probably benign	Het
Or5ae1	T	A	7: 84,565,590 (GRCm39)	V201E	probably damaging	Het
Or5b95	A	C	19: 12,658,113 (GRCm39)	I214L	probably benign	Het
Or6c210	A	G	10: 129,495,995 (GRCm39)	T107A	probably benign	Het
Pnkd	A	G	1: 74,390,716 (GRCm39)	N336D	probably damaging	Het
Prag1	T	C	8: 36,571,088 (GRCm39)	V557A	probably benign	Het
Ptgfr	A	C	3: 151,541,323 (GRCm39)	S62A	probably benign	Het
Smc2	A	G	4: 52,450,842 (GRCm39)	Y220C	probably damaging	Het
Sufu	G	A	19: 46,439,382 (GRCm39)	E246K	probably damaging	Het
Sult2a1	T	A	7: 13,566,604 (GRCm39)	R124*	probably null	Het
Sult4a1	T	A	15: 83,970,817 (GRCm39)	Y196F	possibly damaging	Het
Trim15	G	A	17: 37,175,975 (GRCm39)	R191W	probably damaging	Het
Ttn	A	G	2: 76,773,319 (GRCm39)	V2361A	possibly damaging	Het
Usp16	T	C	16: 87,263,164 (GRCm39)	V122A	possibly damaging	Het
Vmn1r122	T	A	7: 20,868,036 (GRCm39)	K6N	probably benign	Het
Vmn1r34	G	A	6: 66,613,899 (GRCm39)	Q280*	probably null	Het
Vmn2r45	T	A	7: 8,484,332 (GRCm39)	H491L	possibly damaging	Het
Wdpcp	T	C	11: 21,661,949 (GRCm39)	L407P	probably damaging	Het
Zfp157	T	C	5: 138,445,840 (GRCm39)	I65T	probably benign	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
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
R2239: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

Posted On

2013-10-07