Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Chmp7'

402103

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

042782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69717000-69732541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69732306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 62 (S62G)

Ref Sequence

ENSEMBL: ENSMUSP00000047700 (fasta)

Gene Model

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

AlphaFold

Q8R1T1

Predicted Effect

probably benign
Transcript: ENSMUST00000036381
AA Change: S62G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: S62G

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: ENSMUST00000180465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225036

Meta Mutation Damage Score

0.0805

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,793,594		probably benign	Het
Alg6	C	T	4: 99,719,194	L15F	possibly damaging	Het
Allc	T	A	12: 28,555,326	M325L	probably benign	Het
Ap3b2	T	C	7: 81,476,769	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,115,921		probably benign	Het
Borcs6	A	T	11: 69,060,848	T351S	probably damaging	Het
Casc1	A	T	6: 145,179,068	D510E	probably damaging	Het
Ccar1	T	C	10: 62,753,281	R808G	unknown	Het
Celsr3	A	T	9: 108,832,759	T1480S	probably benign	Het
Chdh	C	T	14: 30,031,361	P76S	probably damaging	Het
Cldn23	A	T	8: 35,826,028	V102E	probably damaging	Het
Csn2	G	A	5: 87,694,962	Q69*	probably null	Het
Ctrc	A	C	4: 141,840,384	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,029,511	L253R	probably damaging	Het
Ddr2	G	A	1: 169,984,961	T654M	probably damaging	Het
Derl2	G	T	11: 71,019,247		probably null	Het
Dock5	T	C	14: 67,776,284	S1330G	probably benign	Het
Emp3	T	C	7: 45,919,949	N56S	probably benign	Het
Fam161a	A	T	11: 23,020,583	K195*	probably null	Het
Fam71b	T	C	11: 46,405,163	S121P	probably benign	Het
Ficd	T	A	5: 113,737,011	V47E	probably benign	Het
Gbp10	T	C	5: 105,224,709	T123A	probably benign	Het
Gdf7	C	T	12: 8,298,371	A309T	unknown	Het
Gm14486	G	T	2: 30,658,560		noncoding transcript	Het
Herc1	T	A	9: 66,399,869	C990*	probably null	Het
Itgb4	T	C	11: 116,006,539	V1530A	probably damaging	Het
Itpka	G	A	2: 119,750,493	R374H	probably damaging	Het
Lacc1	T	A	14: 77,034,154		probably null	Het
Med23	A	T	10: 24,895,836	K225*	probably null	Het
Mrgpra3	T	A	7: 47,590,161	T6S	probably benign	Het
Mroh7	T	A	4: 106,721,386	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,469,751	R207G	probably damaging	Het
Mup20	A	C	4: 62,051,586		probably null	Het
Nagpa	A	G	16: 5,199,614		probably null	Het
Nek3	A	T	8: 22,132,227		probably benign	Het
Nes	G	A	3: 87,978,628	G1398E	probably damaging	Het
Nf1	G	T	11: 79,454,189	V1323L	probably damaging	Het
Olfr1416	A	T	1: 92,479,872	F250I	probably benign	Het
Olfr1446	T	A	19: 12,890,437	I47F	probably benign	Het
Olfr791	T	C	10: 129,526,904	F226L	probably benign	Het
Paqr8	G	T	1: 20,935,258	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,266,462	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,392,517	K683E	probably damaging	Het
Pjvk	A	C	2: 76,650,390		probably null	Het
Pkd1l3	A	T	8: 109,633,191	S893C	probably damaging	Het
Plxna2	A	G	1: 194,788,899	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,688,352	I247N	probably damaging	Het
Rac2	T	C	15: 78,565,454	N92S	probably damaging	Het
Senp2	A	T	16: 22,041,380	H501L	possibly damaging	Het
Snx29	A	T	16: 11,738,363	I753F	probably damaging	Het
Tcf20	T	A	15: 82,856,185	H355L	probably damaging	Het
Tex2	T	C	11: 106,546,840	D668G	unknown	Het
Tlr12	G	A	4: 128,616,709	Q583*	probably null	Het
Tmem119	T	C	5: 113,795,228	I171V	probably damaging	Het
Ube2m	C	T	7: 13,036,322		probably null	Het
Vmn2r25	A	T	6: 123,840,103	I173N	probably damaging	Het
Whrn	A	T	4: 63,432,714	V15E	probably damaging	Het
Zfp558	A	C	9: 18,457,000	V164G	possibly damaging	Het

Other mutations in Chmp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Chmp7	APN	14	69721323	missense	probably damaging	0.99
IGL01304:Chmp7	APN	14	69718613	missense	probably benign	0.08
IGL01339:Chmp7	APN	14	69719406	missense	probably damaging	1.00
IGL01818:Chmp7	APN	14	69719167	missense	probably damaging	1.00
IGL03005:Chmp7	APN	14	69719828	missense	probably damaging	1.00
R0238:Chmp7	UTSW	14	69720997	missense	probably damaging	0.98
R0238:Chmp7	UTSW	14	69720997	missense	probably damaging	0.98
R0239:Chmp7	UTSW	14	69720997	missense	probably damaging	0.98
R0239:Chmp7	UTSW	14	69720997	missense	probably damaging	0.98
R0395:Chmp7	UTSW	14	69732456	missense	probably benign
R0580:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R0815:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1136:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1137:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1168:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1206:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1260:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1261:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1262:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1460:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1530:Chmp7	UTSW	14	69732488	start codon destroyed	probably null	0.68
R1579:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1581:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R1843:Chmp7	UTSW	14	69719799	missense	probably benign	0.00
R1851:Chmp7	UTSW	14	69719450	missense	probably benign	0.38
R2254:Chmp7	UTSW	14	69720956	missense	probably damaging	0.96
R4075:Chmp7	UTSW	14	69732281	missense	probably damaging	0.99
R4298:Chmp7	UTSW	14	69719201	splice site	probably null
R4595:Chmp7	UTSW	14	69721229	missense	probably damaging	0.96
R4665:Chmp7	UTSW	14	69720955	missense	probably damaging	1.00
R4706:Chmp7	UTSW	14	69718561	missense	probably benign	0.45
R4732:Chmp7	UTSW	14	69732296	missense	probably damaging	0.98
R4733:Chmp7	UTSW	14	69732296	missense	probably damaging	0.98
R5358:Chmp7	UTSW	14	69721235	missense	probably benign	0.15
R8977:Chmp7	UTSW	14	69721235	missense	probably benign	0.15
R9098:Chmp7	UTSW	14	69719462	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCCAGACATCCATCCGTG -3'
(R):5'- GCGGGACTTTTATCGCACAG -3'

Sequencing Primer
(F):5'- CAAGGGGCAGGTCTGATGTC -3'
(R):5'- TTCCGATGTGGTCCCCG -3'

Posted On

2016-07-22