Mutagenetix > Incidental Mutation

Incidental Mutation 'R5858:Cacul1'

455034

Institutional Source

Beutler Lab

Gene Symbol

Cacul1

Ensembl Gene

ENSMUSG00000033417

Gene Name

CDK2 associated, cullin domain 1

Synonyms

2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik

MMRRC Submission

044070-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R5858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60513143-60569420 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 60517482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081790] [ENSMUST00000111460] [ENSMUST00000166712]

AlphaFold

Q8R0X2

Predicted Effect

probably benign
Transcript: ENSMUST00000081790

SMART Domains

Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	35	56	N/A	INTRINSIC
low complexity region	76	92	N/A	INTRINSIC
low complexity region	104	128	N/A	INTRINSIC
Pfam:Cullin	145	346	2.2e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000111460
AA Change: D303G

SMART Domains

Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: D303G

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	35	56	N/A	INTRINSIC
low complexity region	76	92	N/A	INTRINSIC
low complexity region	104	128	N/A	INTRINSIC
Pfam:Cullin	145	294	2.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166712

SMART Domains

Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
low complexity region	35	56	N/A	INTRINSIC
low complexity region	76	92	N/A	INTRINSIC
low complexity region	104	128	N/A	INTRINSIC
Pfam:Cullin	145	287	1.4e-15	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,781,343 (GRCm39)	Q102L	probably benign	Het
Ak9	G	A	10: 41,299,023 (GRCm39)	V1575I	unknown	Het
Alg14	G	A	3: 121,113,737 (GRCm39)		probably benign	Het
Arl5a	T	C	2: 52,302,118 (GRCm39)	I99V	probably benign	Het
Cc2d2a	C	T	5: 43,873,117 (GRCm39)	R934C	probably damaging	Het
Ccr2	A	G	9: 123,906,464 (GRCm39)	E248G	probably benign	Het
Cds2	G	T	2: 132,144,033 (GRCm39)	V287L	probably benign	Het
Cflar	T	C	1: 58,793,010 (GRCm39)	S459P	probably benign	Het
Clcc1	A	G	3: 108,568,744 (GRCm39)	D21G	probably damaging	Het
Col8a2	C	T	4: 126,205,093 (GRCm39)		probably benign	Het
Cops7a	A	T	6: 124,937,134 (GRCm39)	S186T	possibly damaging	Het
Dagla	C	T	19: 10,232,332 (GRCm39)		probably benign	Het
Dapp1	T	C	3: 137,667,292 (GRCm39)	Y49C	possibly damaging	Het
Dnase1	T	C	16: 3,857,513 (GRCm39)		probably benign	Het
Dock9	A	G	14: 121,866,204 (GRCm39)	V633A	probably benign	Het
E4f1	A	G	17: 24,664,302 (GRCm39)	F461L	probably damaging	Het
Epg5	T	A	18: 77,991,514 (GRCm39)	C70*	probably null	Het
Ephb2	T	C	4: 136,399,756 (GRCm39)	H589R	probably benign	Het
Fam184b	A	T	5: 45,796,461 (GRCm39)	C41S	probably damaging	Het
Hace1	A	G	10: 45,587,621 (GRCm39)	T907A	possibly damaging	Het
Il31	T	A	5: 123,618,637 (GRCm39)	T129S	probably benign	Het
Il6	A	T	5: 30,218,472 (GRCm39)	T23S	possibly damaging	Het
Kif12	T	C	4: 63,084,647 (GRCm39)	E557G	probably benign	Het
Krt24	A	T	11: 99,175,591 (GRCm39)	L148H	probably damaging	Het
Mapk8ip1	A	G	2: 92,215,317 (GRCm39)	F635S	probably damaging	Het
Mcc	A	T	18: 44,643,208 (GRCm39)	V313E	probably damaging	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Nbea	A	G	3: 55,860,455 (GRCm39)		probably null	Het
Or12e10	A	T	2: 87,640,985 (GRCm39)	I274F	probably benign	Het
Or2ag1	T	A	7: 106,472,975 (GRCm39)	Y159F	probably benign	Het
Or2m13	A	G	16: 19,225,975 (GRCm39)	S265P	possibly damaging	Het
Or5b94	A	G	19: 12,651,743 (GRCm39)	Y58C	probably damaging	Het
P4ha1	A	T	10: 59,175,200 (GRCm39)	L53F	probably damaging	Het
Pcdha7	A	G	18: 37,109,279 (GRCm39)	D768G	probably damaging	Het
Pdzd2	T	A	15: 12,442,675 (GRCm39)	D208V	probably damaging	Het
Ptk2	A	T	15: 73,192,944 (GRCm39)	I159K	probably benign	Het
Rfx6	A	G	10: 51,601,964 (GRCm39)	N761S	probably benign	Het
Rpp25l	A	T	4: 41,712,678 (GRCm39)	D32E	probably benign	Het
Rxrg	A	T	1: 167,454,925 (GRCm39)	K169N	probably damaging	Het
Ryr2	T	C	13: 11,575,460 (GRCm39)	D4846G	probably damaging	Het
Sec23a	A	G	12: 59,019,821 (GRCm39)	F553S	probably damaging	Het
Spen	T	C	4: 141,201,182 (GRCm39)	I2482V	probably benign	Het
Ston1	A	G	17: 88,943,059 (GRCm39)	D155G	possibly damaging	Het
Tha1	A	G	11: 117,764,210 (GRCm39)	F6L	unknown	Het
Trank1	T	A	9: 111,221,604 (GRCm39)	D2780E	probably benign	Het
Ubqln5	T	C	7: 103,778,018 (GRCm39)	T269A	probably benign	Het
Vars1	C	T	17: 35,224,451 (GRCm39)	R324C	probably benign	Het
Zfp287	T	A	11: 62,604,833 (GRCm39)	Q691H	probably damaging	Het

Other mutations in Cacul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Cacul1	APN	19	60,531,504 (GRCm39)	missense	probably damaging	1.00
IGL02614:Cacul1	APN	19	60,551,661 (GRCm39)	missense	possibly damaging	0.72
IGL03329:Cacul1	APN	19	60,531,489 (GRCm39)	missense	probably damaging	1.00
R0012:Cacul1	UTSW	19	60,552,691 (GRCm39)	missense	probably damaging	1.00
R0323:Cacul1	UTSW	19	60,531,498 (GRCm39)	missense	probably benign	0.38
R0400:Cacul1	UTSW	19	60,551,591 (GRCm39)	splice site	probably benign
R0472:Cacul1	UTSW	19	60,531,464 (GRCm39)	missense	probably damaging	1.00
R0853:Cacul1	UTSW	19	60,522,664 (GRCm39)	missense	probably damaging	1.00
R1169:Cacul1	UTSW	19	60,568,846 (GRCm39)	missense	probably damaging	0.99
R1490:Cacul1	UTSW	19	60,568,837 (GRCm39)	missense	probably damaging	0.99
R1840:Cacul1	UTSW	19	60,522,688 (GRCm39)	nonsense	probably null
R5140:Cacul1	UTSW	19	60,551,619 (GRCm39)	missense	probably benign	0.00
R5888:Cacul1	UTSW	19	60,525,902 (GRCm39)	missense	possibly damaging	0.62
R6629:Cacul1	UTSW	19	60,568,805 (GRCm39)	missense	probably benign	0.06
R6853:Cacul1	UTSW	19	60,517,904 (GRCm39)	nonsense	probably null
R6859:Cacul1	UTSW	19	60,522,683 (GRCm39)	missense	probably damaging	1.00
R7486:Cacul1	UTSW	19	60,568,868 (GRCm39)	missense	probably benign	0.08
R8262:Cacul1	UTSW	19	60,517,475 (GRCm39)	makesense	probably null
R8358:Cacul1	UTSW	19	60,551,673 (GRCm39)	missense	possibly damaging	0.75
R8889:Cacul1	UTSW	19	60,568,960 (GRCm39)	missense	probably damaging	0.99
R9357:Cacul1	UTSW	19	60,533,942 (GRCm39)	missense	probably benign	0.00
R9555:Cacul1	UTSW	19	60,533,887 (GRCm39)	nonsense	probably null
R9755:Cacul1	UTSW	19	60,533,955 (GRCm39)	missense	probably damaging	0.98
X0027:Cacul1	UTSW	19	60,531,490 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCAGTCTAGCAGCAATTG -3'
(R):5'- TGAGGTGATGCCCCAAGATC -3'

Sequencing Primer
(F):5'- CCAGTCTAGCAGCAATTGTTTTTG -3'
(R):5'- CCAAGATCAGTCCCTGGTGATATTG -3'

Posted On

2017-02-10