Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Erich5'

25228

Institutional Source

Beutler Lab

Gene Symbol

Erich5

Ensembl Gene

ENSMUSG00000044726

Gene Name

glutamate rich 5

Synonyms

BC030476

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R0311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34453305-34473892 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 34472939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 363 (*363W)

Ref Sequence

ENSEMBL: ENSMUSP00000058182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060894]

AlphaFold

Q8K0S2

Predicted Effect

probably null
Transcript: ENSMUST00000060894
AA Change: *363W

SMART Domains

Protein: ENSMUSP00000058182
Gene: ENSMUSG00000044726
AA Change: *363W

Domain	Start	End	E-Value	Type
Pfam:DUF4573	95	251	4.6e-60	PFAM
coiled coil region	318	349	N/A	INTRINSIC
low complexity region	353	358	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	probably damaging	Het

Other mutations in Erich5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Erich5	APN	15	34470754	missense	probably damaging	0.98
IGL02237:Erich5	APN	15	34471336	missense	probably benign	0.13
IGL02457:Erich5	APN	15	34470853	missense	probably damaging	1.00
R0625:Erich5	UTSW	15	34471369	missense	probably damaging	1.00
R2857:Erich5	UTSW	15	34471414	missense	probably damaging	1.00
R3745:Erich5	UTSW	15	34470732	missense	probably damaging	0.96
R4214:Erich5	UTSW	15	34471411	missense	possibly damaging	0.89
R4646:Erich5	UTSW	15	34470966	missense	possibly damaging	0.47
R6309:Erich5	UTSW	15	34471456	missense	probably benign
R7002:Erich5	UTSW	15	34471362	missense	probably damaging	0.98
R7151:Erich5	UTSW	15	34470949	missense	probably damaging	0.99
R8523:Erich5	UTSW	15	34471356	missense	probably benign	0.37
R8930:Erich5	UTSW	15	34453698	missense	probably benign	0.00
R8932:Erich5	UTSW	15	34453698	missense	probably benign	0.00
R9267:Erich5	UTSW	15	34471417	missense	possibly damaging	0.89
R9355:Erich5	UTSW	15	34470855	missense	probably damaging	1.00
X0024:Erich5	UTSW	15	34470837	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CCTACTGTGTAGACCTAGAGGGCAAA -3'
(R):5'- AACCGTGTCTGGCTTAGCAGTTTTAT -3'

Sequencing Primer
(F):5'- agcccaggaccaccaac -3'
(R):5'- GCATTGTTCTCTTGGTTCCTACAG -3'

Posted On

2013-04-16