Mutagenetix > Incidental Mutation

Incidental Mutation 'R3745:Erich5'

271186

Institutional Source

Beutler Lab

Gene Symbol

Erich5

Ensembl Gene

ENSMUSG00000044726

Gene Name

glutamate rich 5

Synonyms

BC030476

MMRRC Submission

040731-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R3745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34453305-34473892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34470732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 36 (C36S)

Ref Sequence

ENSEMBL: ENSMUSP00000058182 (fasta)

Gene Model

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

AlphaFold

Q8K0S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000060894
AA Change: C36S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058182
Gene: ENSMUSG00000044726
AA Change: C36S

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

0.0903

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot9	G	A	X: 155,271,945		probably benign	Het
Akap10	A	G	11: 61,915,305	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060	A162S	probably damaging	Het
Auts2	A	G	5: 131,476,587		probably benign	Het
Cog6	A	T	3: 52,992,819	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Cyp2d11	A	C	15: 82,391,855	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442	N98D	possibly damaging	Het
F5	A	G	1: 164,186,779	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858		probably benign	Het
Gm6408	G	T	5: 146,484,436	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340		probably benign	Het
Lrriq1	T	C	10: 103,170,856	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567		probably benign	Het
Msantd1	T	A	5: 34,923,467	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485		probably benign	Het
Nbn	T	A	4: 15,976,163	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421		probably benign	Het
Pkn3	A	G	2: 30,090,341	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151		probably benign	Het
Prdm10	T	C	9: 31,340,407	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185	T284I	unknown	Het
Psma3	T	C	12: 70,978,748	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365		noncoding transcript	Het
Tex11	A	G	X: 100,916,572	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726	D289E	probably benign	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
R0311:Erich5	UTSW	15	34472939	makesense	probably null
R0625:Erich5	UTSW	15	34471369	missense	probably damaging	1.00
R2857:Erich5	UTSW	15	34471414	missense	probably damaging	1.00
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'- AGGGCTTCGATCTAAGTGAGG -3'
(R):5'- TGCACTAGAGGCTCAATCTTC -3'

Sequencing Primer
(F):5'- CTTCGATCTAAGTGAGGGTTGTG -3'
(R):5'- CACTAGAGGCTCAATCTTCTTTGTGG -3'

Posted On

2015-03-18