Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:Chmp7'

241897

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

040254-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2254 (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 69958405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 255 (V255I)

Ref Sequence

ENSEMBL: ENSMUSP00000047700 (fasta)

Gene Model

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

AlphaFold

Q8R1T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036381
AA Change: V255I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: V255I

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,311,365 (GRCm39)	E260G	probably benign	Het
AI429214	G	T	8: 37,460,920 (GRCm39)	D23Y	possibly damaging	Het
Alms1	A	G	6: 85,596,830 (GRCm39)	Y1021C	probably damaging	Het
Ang5	A	G	14: 44,200,074 (GRCm39)	D46G	probably benign	Het
Ano9	T	A	7: 140,683,003 (GRCm39)	D635V	probably benign	Het
Apob	C	T	12: 8,061,256 (GRCm39)	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,025,390 (GRCm39)	E63G	probably benign	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Cdcp3	G	T	7: 130,824,634 (GRCm39)	C243F	probably damaging	Het
Cdh2	A	T	18: 16,776,985 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,352,979 (GRCm39)	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,939,707 (GRCm39)	K137*	probably null	Het
Gdi2	T	A	13: 3,604,400 (GRCm39)		probably null	Het
Glyr1	A	G	16: 4,836,877 (GRCm39)	V429A	probably benign	Het
Gm5938	T	A	X: 77,172,161 (GRCm39)		probably null	Het
Golt1b	T	C	6: 142,341,979 (GRCm39)	L121P	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Ifi204	G	A	1: 173,589,296 (GRCm39)	T45M	possibly damaging	Het
Il18r1	A	G	1: 40,530,380 (GRCm39)	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,187,722 (GRCm39)		probably null	Het
Kitl	G	A	10: 99,915,993 (GRCm39)		probably null	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Lax1	A	G	1: 133,607,971 (GRCm39)	S257P	probably damaging	Het
Lepr	T	C	4: 101,672,309 (GRCm39)	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,612,315 (GRCm39)	R356H	probably damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Med11	T	C	11: 70,342,921 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,954,485 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,271 (GRCm39)	V294A	probably damaging	Het
Ovch2	A	G	7: 107,389,402 (GRCm39)	V342A	probably benign	Het
Ovgp1	A	G	3: 105,894,228 (GRCm39)		probably benign	Het
Oxtr	A	T	6: 112,466,067 (GRCm39)	L231Q	probably damaging	Het
Prap1	A	G	7: 139,676,075 (GRCm39)	T30A	probably damaging	Het
Scg2	G	A	1: 79,414,217 (GRCm39)	P169S	probably damaging	Het
Scube2	A	G	7: 109,424,666 (GRCm39)	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,592,571 (GRCm39)	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,041,858 (GRCm39)	C450G	probably benign	Het
Tas2r120	A	T	6: 132,634,572 (GRCm39)	Q218L	probably benign	Het
Tbx15	A	G	3: 99,259,190 (GRCm39)	T354A	possibly damaging	Het
Trim24	A	G	6: 37,935,612 (GRCm39)	T868A	probably benign	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr20rt	T	A	12: 65,273,007 (GRCm39)	W56R	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp40	T	C	17: 23,397,344 (GRCm39)	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,768,662 (GRCm39)	H317Y	probably damaging	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
R1206: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
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'- AGCTGTAATCACCAGTCAATTGTC -3'
(R):5'- TCTGCACTCATATGCCCAGG -3'

Sequencing Primer
(F):5'- TTCTGTATGGACTACCTAGTAACTG -3'
(R):5'- CCAGGCCTGGTTGTGGATTTC -3'

Posted On

2014-10-16