Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Chmp7'

166584

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

039569-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69717000-69732541 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 69732488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000047700 (fasta)

Gene Model

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

AlphaFold

Q8R1T1

Predicted Effect

probably null
Transcript: ENSMUST00000036381
AA Change: M1T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: M1T

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,569,378	C425R	probably damaging	Het
Adam15	A	G	3: 89,349,830	S20P	probably damaging	Het
Adgra3	G	A	5: 49,961,137	T1023I	probably benign	Het
Angel2	T	A	1: 190,939,088	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,991,721	M321K	probably damaging	Het
Atad2b	C	T	12: 4,942,018	R206*	probably null	Het
Atp10b	T	A	11: 43,197,524	F319Y	probably benign	Het
AW554918	A	G	18: 25,400,104	R272G	probably damaging	Het
BC027072	A	G	17: 71,749,478	V1068A	probably benign	Het
Bpi	T	A	2: 158,261,145	I70N	probably damaging	Het
Brca1	T	C	11: 101,524,695	D871G	probably damaging	Het
Capn3	G	A	2: 120,482,208	A160T	probably damaging	Het
Cenpe	T	C	3: 135,246,902	L1451P	possibly damaging	Het
Csrnp1	G	C	9: 119,973,546	Q200E	possibly damaging	Het
Dscam	G	A	16: 96,819,874	P545S	probably damaging	Het
Erap1	A	G	13: 74,646,543	E107G	probably benign	Het
Errfi1	A	G	4: 150,865,386	I49V	probably benign	Het
Fam160b1	T	A	19: 57,386,305	I704N	probably damaging	Het
Fam171b	T	C	2: 83,880,189	L735S	probably damaging	Het
Fancm	T	A	12: 65,092,490		probably null	Het
Fbp2	G	C	13: 62,837,159	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,682,976	G255V	probably damaging	Het
Fzd2	T	C	11: 102,605,308	S193P	probably benign	Het
Gak	A	G	5: 108,624,193	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,433,769	I7T	probably benign	Het
Gbp11	T	C	5: 105,327,489	H331R	probably damaging	Het
Gpr19	C	T	6: 134,869,998	V241M	probably damaging	Het
Grk6	G	A	13: 55,458,799	A437T	probably damaging	Het
Hip1	T	C	5: 135,444,780	D253G	probably damaging	Het
Ifna9	G	C	4: 88,592,172	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,312,361	T384A	probably benign	Het
Ip6k1	C	A	9: 108,045,562	C221*	probably null	Het
Kcna1	C	A	6: 126,642,531	E275D	probably benign	Het
Kcnt2	C	T	1: 140,484,232	Q468*	probably null	Het
Kin	T	C	2: 10,092,339	V333A	probably damaging	Het
Leprot	G	T	4: 101,656,287	V91L	probably benign	Het
Mettl21c	A	G	1: 44,017,184		probably null	Het
Myom2	T	C	8: 15,122,384	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,248,909	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,022	*72K	probably null	Het
Nol3	T	C	8: 105,279,226	V84A	probably benign	Het
Olfr1188	A	T	2: 88,559,483	I5F	probably benign	Het
Olfr1388	C	T	11: 49,443,905	S18L	probably benign	Het
Olfr901	T	C	9: 38,430,324	I14T	probably damaging	Het
Pdgfra	T	A	5: 75,189,010		probably null	Het
Pik3cb	T	C	9: 99,053,973	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,178,931	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,167,192	S275P	probably benign	Het
Prl3b1	G	A	13: 27,243,865	A53T	probably benign	Het
Rapgef6	T	A	11: 54,661,183	I959K	probably damaging	Het
Scn5a	T	C	9: 119,495,562	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,826,684	S263P	probably damaging	Het
Setd5	G	A	6: 113,109,913	V34I	probably damaging	Het
Slc17a2	A	G	13: 23,819,069	D234G	probably damaging	Het
Spink5	T	A	18: 44,015,671	S934T	probably damaging	Het
St18	A	C	1: 6,845,569		probably null	Het
St3gal4	T	C	9: 35,052,296	I239V	probably benign	Het
Stag3	C	T	5: 138,297,412	T399I	probably damaging	Het
Syt11	T	C	3: 88,762,367	K6E	probably damaging	Het
Taf15	T	C	11: 83,487,296	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,496,055	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688	W406R	probably damaging	Het
Tgm6	A	G	2: 130,151,282	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,827,009		probably null	Het
Tmub2	T	C	11: 102,287,486	S72P	probably benign	Het
Trappc13	G	A	13: 104,150,143	T202I	probably damaging	Het
Trim9	T	C	12: 70,272,428	E449G	probably damaging	Het
Trip11	C	A	12: 101,912,767	G21V	unknown	Het
Ttll12	G	A	15: 83,588,655	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,351,152	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,329,944	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,785,003	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zfhx3	C	T	8: 108,948,489	P2057L	probably 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
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'- TCTCTGAGTCCAGACATCCATCCG -3'
(R):5'- CTAGTACGCCTCGCCAAACTCTATG -3'

Sequencing Primer
(F):5'- tccccctcctcctcctc -3'
(R):5'- TTCCCGTCGCACAAAGG -3'

Posted On

2014-04-13