Mutagenetix > Incidental Mutation

Incidental Mutation 'R0945:Eid1'

82045

Institutional Source

Beutler Lab

Gene Symbol

Eid1

Ensembl Gene

ENSMUSG00000091337

Gene Name

EP300 interacting inhibitor of differentiation 1

Synonyms

2610002K20Rik, Cri1, EID-1, ORF12

MMRRC Submission

039084-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R0945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125515015-125516705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125515497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 129 (D129G)

Ref Sequence

ENSEMBL: ENSMUSP00000129413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042246] [ENSMUST00000110477] [ENSMUST00000110480] [ENSMUST00000164756]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042246

SMART Domains

Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109

Domain	Start	End	E-Value	Type
low complexity region	57	68	N/A	INTRINSIC
PTB	187	351	1.38e-34	SMART
SH2	520	599	4.69e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110477

SMART Domains

Protein: ENSMUSP00000106103
Gene: ENSMUSG00000035109

Domain	Start	End	E-Value	Type
Pfam:PID	1	62	1.7e-19	PFAM
SH2	234	313	4.69e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110480

SMART Domains

Protein: ENSMUSP00000106106
Gene: ENSMUSG00000035109

Domain	Start	End	E-Value	Type
Pfam:PID	1	62	1.7e-19	PFAM
SH2	234	313	4.69e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164756
AA Change: D129G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129413
Gene: ENSMUSG00000091337
AA Change: D129G

Domain	Start	End	E-Value	Type
low complexity region	31	58	N/A	INTRINSIC
low complexity region	66	85	N/A	INTRINSIC

Meta Mutation Damage Score

0.4638

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,110,481 (GRCm39)	M883V	probably benign	Het
Allc	A	G	12: 28,609,962 (GRCm39)	S212P	probably benign	Het
Anxa10	A	G	8: 62,513,279 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,268 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,668,889 (GRCm39)		probably benign	Het
Arhgap30	G	T	1: 171,230,854 (GRCm39)	V204L	probably damaging	Het
Cd109	T	A	9: 78,596,223 (GRCm39)	V852E	possibly damaging	Het
Ceacam5	T	A	7: 17,481,269 (GRCm39)	Y339N	probably damaging	Het
Chaf1a	A	G	17: 56,374,441 (GRCm39)	D876G	probably damaging	Het
Chd9	A	G	8: 91,659,630 (GRCm39)	K197E	possibly damaging	Het
Cnr2	A	T	4: 135,644,632 (GRCm39)	M237L	probably benign	Het
Dnm2	C	A	9: 21,416,956 (GRCm39)	Q830K	probably damaging	Het
Dst	T	C	1: 34,310,500 (GRCm39)	L1615P	probably damaging	Het
Exoc5	A	G	14: 49,276,799 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,723,803 (GRCm39)	Y1854C	probably benign	Het
Il15ra	T	A	2: 11,723,138 (GRCm39)	V54E	probably damaging	Het
Il4i1	G	A	7: 44,489,128 (GRCm39)	V306M	probably damaging	Het
Lrsam1	T	C	2: 32,837,921 (GRCm39)	D211G	probably benign	Het
Miga1	A	T	3: 152,023,300 (GRCm39)	F250L	possibly damaging	Het
Myrfl	C	T	10: 116,639,299 (GRCm39)		probably benign	Het
Nell1	A	G	7: 49,869,333 (GRCm39)	I203V	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or14j9	G	A	17: 37,874,278 (GRCm39)	T308I	probably benign	Het
Or4a15	T	C	2: 89,193,599 (GRCm39)	Y58C	probably damaging	Het
Or52u1	T	A	7: 104,237,879 (GRCm39)	N289K	probably damaging	Het
Pdxdc1	A	G	16: 13,675,296 (GRCm39)	L345P	probably damaging	Het
Pex3	C	A	10: 13,418,420 (GRCm39)	A79S	probably benign	Het
Pla2r1	A	C	2: 60,288,754 (GRCm39)	L626R	possibly damaging	Het
Plcb3	A	G	19: 6,932,246 (GRCm39)	S1107P	probably damaging	Het
Ppcdc	C	T	9: 57,327,441 (GRCm39)		probably null	Het
Rbak	A	T	5: 143,159,334 (GRCm39)	F573Y	probably damaging	Het
Rfc1	A	G	5: 65,436,052 (GRCm39)		probably null	Het
Rpl13	C	T	8: 123,831,913 (GRCm39)	A203V	possibly damaging	Het
Scn8a	A	G	15: 100,913,668 (GRCm39)	H1020R	possibly damaging	Het
Slf1	A	G	13: 77,251,590 (GRCm39)		probably benign	Het
Synj1	A	G	16: 90,757,333 (GRCm39)	L905S	possibly damaging	Het
Tmem59	T	A	4: 107,044,922 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uri1	A	T	7: 37,669,103 (GRCm39)	D127E	probably damaging	Het
Usp31	T	C	7: 121,269,476 (GRCm39)	E489G	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp941	C	T	7: 140,391,577 (GRCm39)	R594H	probably damaging	Het
Zfy1	T	C	Y: 725,983 (GRCm39)	D594G	probably damaging	Het

Other mutations in Eid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2016:Eid1	UTSW	2	125,515,121 (GRCm39)	missense	probably benign	0.01
R2017:Eid1	UTSW	2	125,515,121 (GRCm39)	missense	probably benign	0.01
R2266:Eid1	UTSW	2	125,515,344 (GRCm39)	missense	possibly damaging	0.90
R5430:Eid1	UTSW	2	125,515,550 (GRCm39)	missense	probably damaging	0.98
R9335:Eid1	UTSW	2	125,515,578 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGATGACTGGGAGGACGACTACG -3'
(R):5'- TTTTGCTGAGCCCCTGTGAGAC -3'

Sequencing Primer
(F):5'- GACGACTACGAGTTCCCTGAAG -3'
(R):5'- CGCGATTCTCAGGTTTAACAC -3'

Posted On

2013-11-08