Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02051:Cacul1'

186113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacul1

Ensembl Gene

ENSMUSG00000033417

Gene Name

CDK2 associated, cullin domain 1

Synonyms

2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL02051

Quality Score

Status

Chromosome

Chromosomal Location

60513143-60569420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60531504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 255 (D255G)

Ref Sequence

ENSEMBL: ENSMUSP00000127014 (fasta)

Gene Model

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

AlphaFold

Q8R0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081790
AA Change: D255G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: D255G

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

probably damaging
Transcript: ENSMUST00000111460
AA Change: D255G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: D255G

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 damaging
Transcript: ENSMUST00000166712
AA Change: D255G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: D255G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chi3l1	T	C	1: 134,111,887 (GRCm39)	S94P	probably damaging	Het
Defa38	A	G	8: 21,585,275 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,792,617 (GRCm39)	T223A	probably benign	Het
Firrm	T	C	1: 163,785,091 (GRCm39)	T763A	probably benign	Het
Gfra3	T	C	18: 34,828,894 (GRCm39)	T167A	possibly damaging	Het
Glb1l3	T	C	9: 26,736,464 (GRCm39)	I533V	probably benign	Het
Gm11437	T	A	11: 84,043,592 (GRCm39)	Q233L	probably benign	Het
Hif1an	A	G	19: 44,551,829 (GRCm39)	Y93C	probably damaging	Het
Hspg2	A	G	4: 137,295,700 (GRCm39)		probably benign	Het
Ints15	A	G	5: 143,293,737 (GRCm39)	C247R	probably damaging	Het
Mak	G	A	13: 41,195,558 (GRCm39)	A385V	probably benign	Het
Mical2	G	T	7: 111,980,597 (GRCm39)	K190N	probably benign	Het
Moxd1	A	G	10: 24,128,916 (GRCm39)		probably null	Het
Ptpn5	A	G	7: 46,732,507 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,771,083 (GRCm39)	Y2614H	probably benign	Het
Sema3e	T	A	5: 14,274,324 (GRCm39)	Y192N	possibly damaging	Het
Smpd4	T	C	16: 17,444,382 (GRCm39)	L145P	probably damaging	Het
Tesk2	A	G	4: 116,608,381 (GRCm39)	E101G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,948 (GRCm39)	V50E	probably benign	Het
Vpreb3	G	A	10: 75,784,244 (GRCm39)		probably null	Het
Vps72	T	C	3: 95,030,040 (GRCm39)	L353P	possibly damaging	Het

Other mutations in Cacul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5858:Cacul1	UTSW	19	60,517,482 (GRCm39)	utr 3 prime	probably benign
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

Posted On

2014-05-07