Mutagenetix > Incidental Mutation

Incidental Mutation 'R3612:Gm4782'

334574

Institutional Source

Beutler Lab

Gene Symbol

Gm4782

Ensembl Gene

ENSMUSG00000092012

Gene Name

predicted gene 4782

Synonyms

MMRRC Submission

040672-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R3612 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50585617-50587662 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 50585610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000164674

SMART Domains

Protein: ENSMUSP00000131595
Gene: ENSMUSG00000092012

Domain	Start	End	E-Value	Type
coiled coil region	20	46	N/A	INTRINSIC
HAT	62	94	2.07e0	SMART
HAT	96	128	1.39e-6	SMART
HAT	130	162	3.11e-4	SMART
HAT	164	195	1.41e-2	SMART
HAT	197	228	8.13e-8	SMART
HAT	230	265	7.24e-5	SMART
HAT	267	301	3.52e1	SMART
HAT	311	343	6.53e2	SMART
HAT	345	379	1.35e-4	SMART
HAT	389	425	2.94e-5	SMART
HAT	427	458	2.05e2	SMART
HAT	460	492	1.29e-1	SMART
HAT	494	528	1.32e-7	SMART
HAT	530	561	1.41e-2	SMART
low complexity region	656	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168705

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,251 (GRCm39)	V192A	probably damaging	Het
Acsm2	G	C	7: 119,190,553 (GRCm39)	V90L	probably damaging	Het
Adam5	T	C	8: 25,308,105 (GRCm39)		probably benign	Het
Ankrd12	A	T	17: 66,290,542 (GRCm39)	D1630E	probably benign	Het
Ccdc88c	A	T	12: 100,905,332 (GRCm39)	I1085N	probably damaging	Het
Cdc42bpb	A	G	12: 111,270,256 (GRCm39)		probably benign	Het
Cdh19	A	T	1: 110,821,026 (GRCm39)	C571S	probably damaging	Het
Cep290	T	A	10: 100,377,443 (GRCm39)	L1491*	probably null	Het
Cherp	G	A	8: 73,215,840 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,274,893 (GRCm39)	S188G	probably null	Het
Ech1	C	T	7: 28,529,668 (GRCm39)	R34C	probably damaging	Het
Erc2	T	C	14: 27,499,134 (GRCm39)	S337P	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fah	A	G	7: 84,234,498 (GRCm39)	V412A	probably damaging	Het
Gatc	T	A	5: 115,473,545 (GRCm39)	E131D	probably benign	Het
Glrb	A	G	3: 80,769,337 (GRCm39)	V130A	possibly damaging	Het
Klhl1	C	T	14: 96,619,206 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	G	C	11: 60,368,505 (GRCm39)	D422H	probably damaging	Het
Ncapd3	T	A	9: 26,961,653 (GRCm39)	H360Q	probably damaging	Het
Or1e22	T	C	11: 73,376,766 (GRCm39)	R295G	probably benign	Het
Ppargc1b	T	C	18: 61,443,627 (GRCm39)	N528S	probably benign	Het
Rprd2	G	A	3: 95,671,464 (GRCm39)	P1313L	probably damaging	Het
Slc12a7	C	A	13: 73,958,042 (GRCm39)	D955E	probably benign	Het
Slc9a2	G	A	1: 40,758,218 (GRCm39)		probably null	Het
Tex24	T	A	8: 27,835,201 (GRCm39)	V243D	probably benign	Het
Vmn2r17	A	G	5: 109,577,463 (GRCm39)	T505A	probably benign	Het
Vps37a	T	C	8: 40,997,977 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,841,492 (GRCm39)	Y20C	probably damaging	Het

Other mutations in Gm4782

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0242:Gm4782	UTSW	6	50,586,838 (GRCm39)	missense	probably benign	0.00
R0266:Gm4782	UTSW	6	50,587,674 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACATTGACTGACAGCGGGC -3'
(R):5'- AAGGCCTTTCTTCTCCGGAG -3'

Sequencing Primer
(F):5'- GTTCAAGGTCATCCTGGGATCAAC -3'
(R):5'- AATCATTGAATTCTTCTGCGTCTGTG -3'

Posted On

2015-09-09