Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Eomes'

713754

Institutional Source

Beutler Lab

Gene Symbol

Eomes

Ensembl Gene

ENSMUSG00000032446

Gene Name

eomesodermin

Synonyms

Tbr2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118307259-118315176 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118313640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 562 (T562A)

Ref Sequence

ENSEMBL: ENSMUSP00000035020 (fasta)

Gene Model

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

AlphaFold

O54839

Predicted Effect

SMART Domains

Protein: ENSMUSP00000035020
Gene: ENSMUSG00000032446
AA Change: T562A

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: T543A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107393
Gene: ENSMUSG00000032446
AA Change: T543A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,146,140 (GRCm39)	Y503H	probably benign	Het
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,879,859 (GRCm39)	D337G	probably damaging	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Fam187b	A	T	7: 30,677,067 (GRCm39)	E192V	probably damaging	Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Grik4	T	A	9: 42,571,037 (GRCm39)	M223L	probably benign	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,611,555 (GRCm39)	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	possibly damaging	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
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
X0021:Eomes	UTSW	9	118,311,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACGGCGTTCAAAACTTCTTCC -3'
(R):5'- TCTTCTGGGAAGACAGGTGG -3'

Sequencing Primer
(F):5'- GCGTTCAAAACTTCTTCCCGGAG -3'
(R):5'- AAGACAGGTGGGCTCATTCTG -3'

Posted On

2022-06-15