Mutagenetix > Incidental Mutation

Incidental Mutation 'R8840:Ccz1'

674363

Institutional Source

Beutler Lab

Gene Symbol

Ccz1

Ensembl Gene

ENSMUSG00000029617

Gene Name

CCZ1 vacuolar protein trafficking and biogenesis associated

Synonyms

MMRRC Submission

068668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R8840 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143924727-143951695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143940982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 191 (I191V)

Ref Sequence

ENSEMBL: ENSMUSP00000031621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031621]

AlphaFold

Q8C1Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031621
AA Change: I191V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031621
Gene: ENSMUSG00000029617
AA Change: I191V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:DUF1712	25	422	3.7e-97	PFAM
Pfam:DUF1712	398	477	5.4e-14	PFAM

Meta Mutation Damage Score

0.1592

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc4	G	A	5: 53,016,473 (GRCm39)	D484N	probably damaging	Het
Antxr2	T	A	5: 98,152,769 (GRCm39)	L109F	probably damaging	Het
Arhgap9	A	G	10: 127,161,009 (GRCm39)	T179A	possibly damaging	Het
Atp6v1b1	A	T	6: 83,733,845 (GRCm39)	I359F		Het
Btnl1	A	G	17: 34,604,577 (GRCm39)	T453A	probably benign	Het
Bub1	T	C	2: 127,649,927 (GRCm39)	I644V	probably benign	Het
Ccdc163	T	A	4: 116,567,483 (GRCm39)		probably null	Het
Ccdc8	T	A	7: 16,728,642 (GRCm39)	F44I	probably damaging	Het
Cldn1	T	C	16: 26,190,286 (GRCm39)	K31E	possibly damaging	Het
Ctr9	A	G	7: 110,642,237 (GRCm39)	D321G	probably damaging	Het
Dmxl2	T	C	9: 54,309,139 (GRCm39)	N1871D	possibly damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Dscaml1	A	G	9: 45,634,718 (GRCm39)	E1211G	probably damaging	Het
Eppk1	T	A	15: 75,994,094 (GRCm39)	D929V	probably benign	Het
Fam151a	T	C	4: 106,602,819 (GRCm39)	V246A	probably benign	Het
Fsip2	A	G	2: 82,821,606 (GRCm39)	I5780V	probably benign	Het
Gart	A	T	16: 91,433,010 (GRCm39)	M313K	probably benign	Het
Gnl1	T	G	17: 36,293,486 (GRCm39)	L224V	probably damaging	Het
Hectd3	T	C	4: 116,855,604 (GRCm39)	V368A	probably benign	Het
Ibsp	C	T	5: 104,458,006 (GRCm39)	A181V	probably benign	Het
Kdm1a	T	C	4: 136,287,716 (GRCm39)	E421G	probably damaging	Het
Kmt2a	A	T	9: 44,721,016 (GRCm39)	Y3831N	unknown	Het
Meltf	T	C	16: 31,716,020 (GRCm39)	L733P	probably damaging	Het
Nod2	T	C	8: 89,399,379 (GRCm39)	F898L	probably benign	Het
Npr3	A	T	15: 11,905,329 (GRCm39)	Y133N	probably damaging	Het
Or8g29-ps1	G	A	9: 39,201,018 (GRCm39)	T56I	unknown	Het
Pkd1l3	T	C	8: 110,349,842 (GRCm39)	V229A	unknown	Het
Pramel25	C	A	4: 143,521,638 (GRCm39)	T418K	probably damaging	Het
Primpol	A	T	8: 47,046,731 (GRCm39)	F188L	probably damaging	Het
Rbm15	A	G	3: 107,240,305 (GRCm39)	V31A	probably benign	Het
Robo2	T	A	16: 73,782,570 (GRCm39)	D322V	probably damaging	Het
Rpl3l	A	G	17: 24,952,711 (GRCm39)	N114S	probably damaging	Het
Sacs	A	G	14: 61,429,177 (GRCm39)	D412G	probably benign	Het
Sbno2	A	G	10: 79,893,360 (GRCm39)	S1314P	probably damaging	Het
Sez6	A	G	11: 77,867,313 (GRCm39)	D770G	probably damaging	Het
Skint7	T	C	4: 111,845,183 (GRCm39)	F332L	probably benign	Het
Spaca6	A	T	17: 18,051,365 (GRCm39)	I34F	possibly damaging	Het
Suclg2	T	A	6: 95,546,615 (GRCm39)	E287V	probably damaging	Het
Trhr2	T	C	8: 123,085,621 (GRCm39)	Y121C	probably damaging	Het
Ttn	T	G	2: 76,606,371 (GRCm39)	D18146A	probably damaging	Het
Wdr3	G	A	3: 100,057,253 (GRCm39)	T450I	probably damaging	Het
Xab2	A	G	8: 3,663,254 (GRCm39)	F470L	probably benign	Het
Ythdc2	A	G	18: 44,993,691 (GRCm39)	H912R	probably damaging	Het
Zfp64	A	T	2: 168,768,635 (GRCm39)	S326T	probably benign	Het
Zswim4	C	T	8: 84,940,699 (GRCm39)	R800Q	probably damaging	Het

Other mutations in Ccz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Ccz1	APN	5	143,949,713 (GRCm39)	missense	probably damaging	0.99
IGL01750:Ccz1	APN	5	143,940,880 (GRCm39)	missense	probably damaging	0.99
3-1:Ccz1	UTSW	5	143,927,582 (GRCm39)	missense	probably benign	0.00
R0128:Ccz1	UTSW	5	143,946,112 (GRCm39)	splice site	probably benign
R1456:Ccz1	UTSW	5	143,947,836 (GRCm39)	splice site	probably benign
R2511:Ccz1	UTSW	5	143,949,815 (GRCm39)	missense	probably damaging	1.00
R4691:Ccz1	UTSW	5	143,928,380 (GRCm39)	missense	possibly damaging	0.96
R4858:Ccz1	UTSW	5	143,949,628 (GRCm39)	missense	probably damaging	0.97
R5761:Ccz1	UTSW	5	143,929,328 (GRCm39)	missense	probably damaging	1.00
R6260:Ccz1	UTSW	5	143,940,859 (GRCm39)	critical splice donor site	probably null
R7286:Ccz1	UTSW	5	143,949,897 (GRCm39)	missense	probably damaging	1.00
R7343:Ccz1	UTSW	5	143,935,000 (GRCm39)	missense	probably damaging	1.00
R7488:Ccz1	UTSW	5	143,928,401 (GRCm39)	missense	probably damaging	1.00
R7606:Ccz1	UTSW	5	143,951,626 (GRCm39)	missense	probably benign	0.38
R8729:Ccz1	UTSW	5	143,948,310 (GRCm39)	missense	probably damaging	0.99
R8753:Ccz1	UTSW	5	143,925,050 (GRCm39)	missense	probably benign	0.44
R9027:Ccz1	UTSW	5	143,946,120 (GRCm39)	intron	probably benign
R9468:Ccz1	UTSW	5	143,929,438 (GRCm39)	missense	probably benign	0.02
R9568:Ccz1	UTSW	5	143,938,251 (GRCm39)	missense	probably damaging	0.99
R9628:Ccz1	UTSW	5	143,925,043 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGACAGACAACTGCACTCACTG -3'
(R):5'- GGGACTGACTTCAAGTCCAG -3'

Sequencing Primer
(F):5'- GCACTCACTGCTACTGTGC -3'
(R):5'- GGACTGACTTCAAGTCCAGTCATTC -3'

Posted On

2021-07-15