Mutagenetix > Incidental Mutation

Incidental Mutation 'R0853:Cacul1'

82642

Institutional Source

Beutler Lab

Gene Symbol

Cacul1

Ensembl Gene

ENSMUSG00000033417

Gene Name

CDK2 associated, cullin domain 1

Synonyms

2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik

MMRRC Submission

039032-MU

Accession Numbers

Essential gene?

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

Stock #

R0853 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60513143-60569420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60522664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 290 (I290N)

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: I320N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: I320N

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 benign
Transcript: ENSMUST00000111460

SMART Domains

Protein: ENSMUSP00000107086
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	294	2.4e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166712
AA Change: I290N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: I290N

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

0.7290

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.9%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	G	T	9: 14,504,074 (GRCm39)	P378Q	probably damaging	Het
Angpt4	A	G	2: 151,780,847 (GRCm39)	E365G	probably damaging	Het
Asb6	G	A	2: 30,717,042 (GRCm39)	P61L	possibly damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Atxn7	C	A	14: 14,089,465 (GRCm38)		probably benign	Het
Ccser2	A	C	14: 36,662,367 (GRCm39)	S272R	probably benign	Het
Cfh	T	A	1: 140,033,228 (GRCm39)	H772L	probably damaging	Het
Cldn6	T	G	17: 23,900,438 (GRCm39)	I134S	probably damaging	Het
Col3a1	T	A	1: 45,382,484 (GRCm39)		probably benign	Het
Fam118a	T	C	15: 84,932,726 (GRCm39)	F156S	possibly damaging	Het
Fgd4	T	A	16: 16,292,251 (GRCm39)		probably benign	Het
Gckr	G	C	5: 31,462,392 (GRCm39)	A242P	probably damaging	Het
Gcnt4	A	G	13: 97,083,343 (GRCm39)	D213G	probably damaging	Het
Hace1	T	A	10: 45,524,779 (GRCm39)	V237E	probably damaging	Het
Herc3	T	C	6: 58,853,549 (GRCm39)	L570P	probably damaging	Het
Hk1	T	A	10: 62,107,495 (GRCm39)	K827*	probably null	Het
Hyal6	T	C	6: 24,734,072 (GRCm39)	F2L	probably benign	Het
Jak2	C	A	19: 29,262,326 (GRCm39)	Y382*	probably null	Het
Kat8	C	T	7: 127,524,396 (GRCm39)	H425Y	probably benign	Het
Kcnj3	T	C	2: 55,327,235 (GRCm39)	F8S	possibly damaging	Het
Klk1	T	A	7: 43,870,922 (GRCm39)		probably benign	Het
Klra8	T	C	6: 130,095,977 (GRCm39)	Y205C	probably damaging	Het
Kpnb1	T	C	11: 97,078,237 (GRCm39)	E26G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nphp3	T	C	9: 103,909,132 (GRCm39)	S781P	probably benign	Het
Nqo2	A	T	13: 34,163,560 (GRCm39)	H73L	probably benign	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Pah	G	A	10: 87,412,080 (GRCm39)		probably null	Het
Pcdhb4	T	G	18: 37,442,938 (GRCm39)	Y749*	probably null	Het
Pdgfrb	C	A	18: 61,213,399 (GRCm39)	N914K	probably damaging	Het
Ralyl	A	G	3: 14,011,566 (GRCm39)	Y4C	probably damaging	Het
Rapgef6	T	A	11: 54,559,503 (GRCm39)	I1052N	probably damaging	Het
Sdk2	G	A	11: 113,712,241 (GRCm39)	T1642I	probably benign	Het
Siglec1	G	A	2: 130,926,942 (GRCm39)	T207M	probably damaging	Het
Taf1b	T	C	12: 24,564,827 (GRCm39)	L148P	probably benign	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Tdp1	G	A	12: 99,901,326 (GRCm39)	R536H	probably damaging	Het
Tubgcp5	T	A	7: 55,464,599 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r58	G	T	7: 5,413,324 (GRCm39)	T302K	probably damaging	Het
Zfp1002	A	T	2: 150,097,398 (GRCm39)	S38R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCTTCCACCACAGTAAGTATCC -3'
(R):5'- AAGCATCTGCTGGTTCTCTGCC -3'

Sequencing Primer
(F):5'- GACTCCTCTGCCCAAGATG -3'
(R):5'- ttttGTATGTTCACCAAAACAGGGC -3'

Posted On

2013-11-08