Mutagenetix > Incidental Mutation

Incidental Mutation 'R7606:Ccz1'

588294

Institutional Source

Beutler Lab

Gene Symbol

Ccz1

Ensembl Gene

ENSMUSG00000029617

Gene Name

CCZ1 vacuolar protein trafficking and biogenesis associated

Synonyms

MMRRC Submission

045676-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R7606 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

143924727-143951695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143951626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 2 (A2V)

Ref Sequence

ENSEMBL: ENSMUSP00000031621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031621] [ENSMUST00000031622]

AlphaFold

Q8C1Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000031621
AA Change: A2V

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031621
Gene: ENSMUSG00000029617
AA Change: A2V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031622

SMART Domains

Protein: ENSMUSP00000031622
Gene: ENSMUSG00000029618

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
EFh	43	71	2.41e-4	SMART
EFh	82	109	1.09e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,943,456 (GRCm39)		probably null	Het
Adat1	T	C	8: 112,709,236 (GRCm39)	K196E	possibly damaging	Het
Aire	T	C	10: 77,873,767 (GRCm39)	D314G	probably damaging	Het
Atp11a	C	T	8: 12,894,427 (GRCm39)	T674I	probably damaging	Het
Atp8b1	T	C	18: 64,688,186 (GRCm39)	D644G	probably damaging	Het
Bag4	A	G	8: 26,259,333 (GRCm39)	S289P	probably damaging	Het
Bcat1	G	T	6: 144,994,358 (GRCm39)	H46Q	probably benign	Het
Btg4	A	G	9: 51,029,307 (GRCm39)	N164S	probably damaging	Het
Cd209g	T	C	8: 4,186,839 (GRCm39)	L128P	probably damaging	Het
Col4a2	T	A	8: 11,493,571 (GRCm39)	M1380K	probably benign	Het
Cpox	T	C	16: 58,494,812 (GRCm39)	V283A	probably benign	Het
Dnah10	A	T	5: 124,894,776 (GRCm39)	D3504V	probably benign	Het
Eml1	A	T	12: 108,503,625 (GRCm39)	I741F	probably benign	Het
Fam171a2	A	G	11: 102,335,002 (GRCm39)	V45A	possibly damaging	Het
Fem1a	A	G	17: 56,563,946 (GRCm39)	D13G	probably damaging	Het
Fkbp14	A	G	6: 54,570,003 (GRCm39)	I9T	probably benign	Het
Golt1b	G	A	6: 142,338,068 (GRCm39)	G13D	probably damaging	Het
Heatr5b	T	C	17: 79,070,455 (GRCm39)	N1653D	probably benign	Het
Hrg	A	G	16: 22,769,873 (GRCm39)	M1V	probably null	Het
Itgb2	T	A	10: 77,391,995 (GRCm39)	I356N	probably damaging	Het
Kcnb2	A	G	1: 15,383,064 (GRCm39)	E130G	probably damaging	Het
Kpna2	A	T	11: 106,882,884 (GRCm39)	F124Y	probably damaging	Het
Lyst	T	C	13: 13,812,060 (GRCm39)	I824T	probably damaging	Het
Meis2	T	C	2: 115,893,801 (GRCm39)	H38R	possibly damaging	Het
Mknk1	T	G	4: 115,735,191 (GRCm39)	I353S	probably damaging	Het
Mrc1	T	A	2: 14,242,955 (GRCm39)	I27N	probably damaging	Het
Mup4	T	C	4: 59,958,568 (GRCm39)	T111A	probably damaging	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Neb	T	G	2: 52,116,456 (GRCm39)	E994A		Het
Nlrc5	T	C	8: 95,203,745 (GRCm39)	M615T	possibly damaging	Het
Nup88	T	C	11: 70,852,441 (GRCm39)	E218G	possibly damaging	Het
Or10g3b	A	T	14: 52,587,420 (GRCm39)	F28I	probably benign	Het
Or4c114	A	G	2: 88,905,641 (GRCm39)		probably benign	Het
Parp11	A	G	6: 127,447,723 (GRCm39)	D19G	probably benign	Het
Parp2	A	T	14: 51,057,487 (GRCm39)	T429S	probably damaging	Het
Pcdhb6	G	A	18: 37,468,659 (GRCm39)	E527K	probably damaging	Het
Pde8a	A	G	7: 80,982,715 (GRCm39)	Y778C	probably damaging	Het
Pea15a	T	C	1: 172,028,150 (GRCm39)		probably null	Het
Plcd3	A	G	11: 102,967,683 (GRCm39)	Y420H	probably damaging	Het
Ppp1ca	C	A	19: 4,243,088 (GRCm39)	S85R	possibly damaging	Het
Pth	A	C	7: 112,985,450 (GRCm39)	I13S	probably benign	Het
Rbm27	A	G	18: 42,460,578 (GRCm39)	T842A	probably damaging	Het
Rcbtb2	T	A	14: 73,419,806 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,276,314 (GRCm39)	L323F	probably benign	Het
Ryr3	A	T	2: 112,475,590 (GRCm39)	Y4539*	probably null	Het
Scamp3	T	A	3: 89,088,525 (GRCm39)	F244I	probably damaging	Het
Sema4d	T	C	13: 51,877,658 (GRCm39)	D58G	probably benign	Het
Skor1	G	T	9: 63,052,664 (GRCm39)	A435E	probably damaging	Het
Slc35a4	A	G	18: 36,815,638 (GRCm39)	Y156C	probably benign	Het
Spryd7	T	C	14: 61,777,607 (GRCm39)	T158A	possibly damaging	Het
Srgap3	A	C	6: 112,716,337 (GRCm39)	I621S	probably benign	Het
Tbc1d31	A	G	15: 57,815,066 (GRCm39)	E581G	probably damaging	Het
Tcf4	C	T	18: 69,776,054 (GRCm39)	T318I	probably damaging	Het
Usf3	C	T	16: 44,039,306 (GRCm39)	T1262M	probably damaging	Het
Vcam1	T	C	3: 115,914,704 (GRCm39)	D316G	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,362 (GRCm39)	E229V	possibly damaging	Het
Zfhx2	T	C	14: 55,304,120 (GRCm39)	E1288G	probably benign	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
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
R8840:Ccz1	UTSW	5	143,940,982 (GRCm39)	missense	probably damaging	0.98
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'- GACGCGATGGGAAAGACTTTC -3'
(R):5'- GTTCCACACGGACCTATCAGAG -3'

Sequencing Primer
(F):5'- GATTAACCTGGGACCTCCGTTG -3'
(R):5'- CCTATCAGAGAGGGACTGGGC -3'

Posted On

2019-10-24