Mutagenetix > Incidental Mutation

Incidental Mutation 'R1206:Chmp7'

100470

Institutional Source

Beutler Lab

Gene Symbol

Chmp7

Ensembl Gene

ENSMUSG00000034190

Gene Name

charged multivesicular body protein 7

Synonyms

4930596K11Rik, 6330407G04Rik, CHMP family, member 7

MMRRC Submission

039276-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69954449-69969990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69956899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 336 (M336I)

Ref Sequence

ENSEMBL: ENSMUSP00000047700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036381]

AlphaFold

Q8R1T1

Predicted Effect

probably benign
Transcript: ENSMUST00000036381
AA Change: M336I

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: M336I

Domain	Start	End	E-Value	Type
low complexity region	143	163	N/A	INTRINSIC
Pfam:Snf7	241	417	1.3e-24	PFAM
low complexity region	420	436	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225036

Meta Mutation Damage Score

0.1136

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het

Other mutations in Chmp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Chmp7	APN	14	69,958,772 (GRCm39)	missense	probably damaging	0.99
IGL01304:Chmp7	APN	14	69,956,062 (GRCm39)	missense	probably benign	0.08
IGL01339:Chmp7	APN	14	69,956,855 (GRCm39)	missense	probably damaging	1.00
IGL01818:Chmp7	APN	14	69,956,616 (GRCm39)	missense	probably damaging	1.00
IGL03005:Chmp7	APN	14	69,957,277 (GRCm39)	missense	probably damaging	1.00
R0238:Chmp7	UTSW	14	69,958,446 (GRCm39)	missense	probably damaging	0.98
R0238:Chmp7	UTSW	14	69,958,446 (GRCm39)	missense	probably damaging	0.98
R0239:Chmp7	UTSW	14	69,958,446 (GRCm39)	missense	probably damaging	0.98
R0239:Chmp7	UTSW	14	69,958,446 (GRCm39)	missense	probably damaging	0.98
R0395:Chmp7	UTSW	14	69,969,905 (GRCm39)	missense	probably benign
R0580:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R0815:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1136:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1137:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1168:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1260:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1261:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1262:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1460:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1530:Chmp7	UTSW	14	69,969,937 (GRCm39)	start codon destroyed	probably null	0.68
R1579:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1581:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R1843:Chmp7	UTSW	14	69,957,248 (GRCm39)	missense	probably benign	0.00
R1851:Chmp7	UTSW	14	69,956,899 (GRCm39)	missense	probably benign	0.38
R2254:Chmp7	UTSW	14	69,958,405 (GRCm39)	missense	probably damaging	0.96
R4075:Chmp7	UTSW	14	69,969,730 (GRCm39)	missense	probably damaging	0.99
R4298:Chmp7	UTSW	14	69,956,650 (GRCm39)	splice site	probably null
R4595:Chmp7	UTSW	14	69,958,678 (GRCm39)	missense	probably damaging	0.96
R4665:Chmp7	UTSW	14	69,958,404 (GRCm39)	missense	probably damaging	1.00
R4706:Chmp7	UTSW	14	69,956,010 (GRCm39)	missense	probably benign	0.45
R4732:Chmp7	UTSW	14	69,969,745 (GRCm39)	missense	probably damaging	0.98
R4733:Chmp7	UTSW	14	69,969,745 (GRCm39)	missense	probably damaging	0.98
R5207:Chmp7	UTSW	14	69,969,755 (GRCm39)	missense	probably benign	0.02
R5358:Chmp7	UTSW	14	69,958,684 (GRCm39)	missense	probably benign	0.15
R8977:Chmp7	UTSW	14	69,958,684 (GRCm39)	missense	probably benign	0.15
R9098:Chmp7	UTSW	14	69,956,911 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGAACAAGGCTGCGTCAAG -3'
(R):5'- AGCTGGACACTGTTCAAGGCATC -3'

Sequencing Primer
(F):5'- GTTTGGAAAAGAGGCTTGAAGTCAG -3'
(R):5'- TTCAAGGCATCCTGGATCG -3'

Posted On

2014-01-15