Mutagenetix > Incidental Mutation

Incidental Mutation 'R1460:Chmp7'

162096

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

039515-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1460 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69717000-69732541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69719450 bp (GRCm38)

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: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.1%

Validation Efficiency

94% (93/99)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	T	4: 109,531,210		probably null	Het
Abcb11	A	G	2: 69,257,374		probably benign	Het
Abi3bp	T	C	16: 56,562,417	V130A	probably damaging	Het
Adamts4	A	G	1: 171,256,440		probably benign	Het
Adgrd1	A	G	5: 129,122,563	T155A	possibly damaging	Het
Ano3	A	T	2: 110,682,758	S631T	probably damaging	Het
Ass1	G	A	2: 31,514,741	V345I	probably benign	Het
Atg7	G	A	6: 114,703,364	A384T	probably damaging	Het
Atp6v0a1	T	A	11: 101,033,998	I303N	probably damaging	Het
B3gntl1	T	G	11: 121,639,798	Y149S	probably damaging	Het
Btnl2	A	G	17: 34,366,450	D475G	probably benign	Het
Cdcp1	A	T	9: 123,180,027	S529T	possibly damaging	Het
Cenpt	A	G	8: 105,848,888	L194P	probably damaging	Het
Chmp4b	A	G	2: 154,692,595	D177G	possibly damaging	Het
Cish	G	T	9: 107,300,397	E91*	probably null	Het
Col22a1	T	C	15: 71,821,931	D740G	unknown	Het
Crocc	G	A	4: 141,029,240	Q1025*	probably null	Het
Ctrc	C	A	4: 141,838,809		probably benign	Het
Cyb5r2	T	A	7: 107,757,243	D7V	probably benign	Het
Dhx29	T	C	13: 112,965,210		probably benign	Het
Dhx9	A	C	1: 153,465,680	D607E	probably benign	Het
Dirc2	T	C	16: 35,719,366	T362A	probably benign	Het
Dnajb7	C	T	15: 81,407,687	G150R	probably benign	Het
Dnase1l3	T	A	14: 7,974,050	T214S	probably benign	Het
Dpm1	A	T	2: 168,210,629	I229N	probably damaging	Het
Dstn	T	C	2: 143,938,488	V36A	possibly damaging	Het
Entpd1	T	C	19: 40,726,188	V247A	probably damaging	Het
Ephb3	C	A	16: 21,218,922	H277Q	probably benign	Het
Etl4	A	T	2: 20,788,477	N671I	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam160a1	T	C	3: 85,730,876	I39V	probably damaging	Het
Fancd2os	G	A	6: 113,598,012	T11I	probably damaging	Het
Fcrlb	G	T	1: 170,912,284		probably benign	Het
Gm4788	T	A	1: 139,698,196	I788F	probably damaging	Het
Gm9268	A	T	7: 43,023,215	R91S	probably benign	Het
Gm9991	T	C	1: 90,679,058		noncoding transcript	Het
Gstk1	C	T	6: 42,246,595	R40W	probably damaging	Het
Gstt1	C	T	10: 75,784,170	V190M	probably damaging	Het
Hectd2	G	A	19: 36,615,508	W691*	probably null	Het
Hecw2	T	C	1: 53,813,245	T1572A	probably damaging	Het
Hoxa5	T	C	6: 52,203,948	T135A	probably benign	Het
Igfl3	T	A	7: 18,179,955	C77S	possibly damaging	Het
Itgb4	A	G	11: 115,984,164	D449G	probably damaging	Het
Larp1b	T	C	3: 40,962,218	V11A	probably benign	Het
Lhx9	A	G	1: 138,838,709		probably benign	Het
Lig3	G	T	11: 82,795,798		probably benign	Het
Lipo4	A	C	19: 33,499,318	F343L	probably benign	Het
Lyn	T	A	4: 3,789,908	Y480*	probably null	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mill1	C	A	7: 18,262,670	A137D	probably damaging	Het
Morc2a	A	T	11: 3,683,794	R635S	probably benign	Het
Mpped2	A	G	2: 106,744,892		probably benign	Het
Mug2	T	C	6: 122,040,533		probably benign	Het
Mut	T	C	17: 40,937,375	Y98H	probably damaging	Het
Mynn	C	A	3: 30,603,704	S57Y	probably damaging	Het
Myo3b	G	A	2: 70,232,454	E333K	probably benign	Het
Myt1	A	T	2: 181,802,932	I514F	probably damaging	Het
Nlrp4f	A	G	13: 65,190,268	C708R	probably benign	Het
Nod2	A	G	8: 88,663,812	E249G	probably damaging	Het
Npy2r	T	C	3: 82,540,944	I175V	probably benign	Het
Obscn	A	T	11: 59,055,966	V4114D	probably damaging	Het
Olfr1249	A	G	2: 89,629,938		probably null	Het
Olfr1382	T	A	11: 49,535,677	M164K	possibly damaging	Het
Olfr355	A	T	2: 36,927,808	M102K	probably damaging	Het
Olfr676	T	A	7: 105,035,708	I170N	possibly damaging	Het
Olfr952	A	G	9: 39,426,207	M288T	probably benign	Het
Pbxip1	T	A	3: 89,445,614	I196N	probably damaging	Het
Piezo1	G	A	8: 122,502,151	T209M	possibly damaging	Het
Polr1a	T	C	6: 71,941,384	M642T	probably damaging	Het
Prdm4	T	C	10: 85,907,822	M190V	probably benign	Het
Psmd7	G	A	8: 107,581,059	S264L	possibly damaging	Het
Qrich1	T	G	9: 108,533,647		probably benign	Het
Rapgef4	G	T	2: 72,031,176		probably null	Het
Rfx5	T	C	3: 94,956,325	I95T	probably damaging	Het
Rgr	G	A	14: 37,045,726	R113C	probably damaging	Het
Rnf20	T	C	4: 49,645,873		probably benign	Het
Rps3a1	G	A	3: 86,138,062	A241V	probably benign	Het
Rsg1	T	C	4: 141,218,212	F125L	probably damaging	Het
Rttn	A	T	18: 89,109,357		probably benign	Het
Scn2a	A	G	2: 65,701,843	T600A	probably damaging	Het
Scyl2	T	C	10: 89,657,889	D339G	possibly damaging	Het
Sipa1	T	A	19: 5,651,447	H1029L	probably benign	Het
Snrnp48	A	G	13: 38,211,105	T124A	probably benign	Het
Sptbn1	A	T	11: 30,138,637	M875K	possibly damaging	Het
Supt6	A	G	11: 78,222,198	V973A	possibly damaging	Het
Supv3l1	T	C	10: 62,443,383		probably benign	Het
Svep1	G	T	4: 58,068,740	N3015K	possibly damaging	Het
Tgfb3	A	G	12: 86,059,067		probably benign	Het
Trerf1	A	G	17: 47,317,845		noncoding transcript	Het
Trim24	T	A	6: 37,964,826	F904I	probably damaging	Het
Trim30d	T	A	7: 104,472,104	Y328F	probably benign	Het
Ttn	T	C	2: 76,868,373	E6G	probably damaging	Het
Ube2m	T	C	7: 13,035,835		probably benign	Het
Wdr90	A	T	17: 25,860,448	S237R	possibly damaging	Het
Zfp735	A	T	11: 73,712,333	H701L	possibly damaging	Het
Zp1	T	C	19: 10,918,878	D161G	probably benign	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
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
R5207:Chmp7	UTSW	14	69732306	missense	probably benign	0.02
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'- TCAGGAACAAGGCTGCGTCAAG -3'
(R):5'- TGCCAAGCTGGACACTGTTCAAG -3'

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

Posted On

2014-03-14