Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01304:Chmp7'

73362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chmp7

Ensembl Gene

ENSMUSG00000034190

Gene Name

charged multivesicular body protein 7

Synonyms

4930596K11Rik, 6330407G04Rik, CHMP family, member 7

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

69717000-69732541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69718613 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 402 (P402L)

Ref Sequence

ENSEMBL: ENSMUSP00000047700 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036381
AA Change: P402L

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: P402L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721	D79E	probably benign	Het
Aplf	A	C	6: 87,641,900	S421A	possibly damaging	Het
Arnt	T	G	3: 95,448,385	D13E	probably damaging	Het
Asap1	T	C	15: 64,312,449	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,319,587	N101S	probably damaging	Het
Cir1	A	T	2: 73,287,724		probably null	Het
Clock	A	G	5: 76,266,355		probably null	Het
Col18a1	T	G	10: 77,076,141		probably benign	Het
Csf2ra	G	A	19: 61,226,833	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,256,168	L469H	probably damaging	Het
Dapk2	T	C	9: 66,231,857		probably benign	Het
F13a1	T	C	13: 36,988,878	D176G	probably benign	Het
Fbn2	T	C	18: 58,061,745	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,781,598	S265L	probably benign	Het
Hmcn1	C	T	1: 150,622,924	G4068D	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ksr1	T	C	11: 79,027,642	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,731,733	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,563,576	T1194A	possibly damaging	Het
Med18	C	A	4: 132,459,619	A190S	probably damaging	Het
Mia2	G	A	12: 59,104,538	E105K	probably damaging	Het
Mnt	T	A	11: 74,842,185	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,149,519		probably null	Het
Olfr1272	G	A	2: 90,282,081	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,317,909	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,467,261	M662K	probably damaging	Het
Qser1	C	A	2: 104,787,631	Q945H	probably damaging	Het
Rad52	A	G	6: 119,918,633	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,266,147	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,813,496	A274S	probably benign	Het
Slco1a5	G	T	6: 142,242,150	Q488K	probably benign	Het
Snai2	T	C	16: 14,706,771	I47T	probably benign	Het
Snw1	T	C	12: 87,453,915	D358G	possibly damaging	Het
Speg	T	C	1: 75,428,197	F2878L	probably benign	Het
Spert	T	A	14: 75,592,645	D36V	possibly damaging	Het
Spg11	T	C	2: 122,072,290	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,625,473	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,655,985	D227N	probably benign	Het
Txndc2	T	C	17: 65,638,453	E243G	possibly damaging	Het
Usp28	A	G	9: 49,026,819	D563G	probably damaging	Het
Vmn1r77	T	C	7: 12,042,035	V178A	probably damaging	Het
Zfp316	A	G	5: 143,254,426	F613L	probably benign	Het
Zfp870	A	T	17: 32,883,006	C450S	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
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
R5207:Chmp7	UTSW	14	69732306	missense	probably benign	0.02
R5358:Chmp7	UTSW	14	69721235	missense	probably benign	0.15

Posted On

2013-10-07