Mutagenetix > Incidental Mutation

Incidental Mutation 'R1490:Cacul1'

163691

Institutional Source

Beutler Lab

Gene Symbol

Cacul1

Ensembl Gene

ENSMUSG00000033417

Gene Name

CDK2 associated, cullin domain 1

Synonyms

MMRRC Submission

039542-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60524696-60581023 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 60580399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 107 (A107E)

Ref Sequence

ENSEMBL: ENSMUSP00000107086 (fasta)

Gene Model

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

AlphaFold

Q8R0X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081790
AA Change: A107E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: A107E

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: A107E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: A107E

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
AA Change: A107E

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: A107E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174914

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Aldh1l2	G	A	10: 83,520,370	T52I	probably damaging	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Eps8l1	A	G	7: 4,470,889	R232G	probably damaging	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr392	A	G	11: 73,814,371	V237A	possibly damaging	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr11	A	C	14: 50,363,176	H873P	probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp458	G	A	13: 67,257,509	P286S	probably damaging	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	probably benign	Het

Other mutations in Cacul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Cacul1	APN	19	60543066	missense	probably damaging	1.00
IGL02614:Cacul1	APN	19	60563223	missense	possibly damaging	0.72
IGL03329:Cacul1	APN	19	60543051	missense	probably damaging	1.00
R0012:Cacul1	UTSW	19	60564253	missense	probably damaging	1.00
R0323:Cacul1	UTSW	19	60543060	missense	probably benign	0.38
R0400:Cacul1	UTSW	19	60563153	splice site	probably benign
R0472:Cacul1	UTSW	19	60543026	missense	probably damaging	1.00
R0853:Cacul1	UTSW	19	60534226	missense	probably damaging	1.00
R1169:Cacul1	UTSW	19	60580408	missense	probably damaging	0.99
R1840:Cacul1	UTSW	19	60534250	nonsense	probably null
R5140:Cacul1	UTSW	19	60563181	missense	probably benign	0.00
R5858:Cacul1	UTSW	19	60529044	utr 3 prime	probably benign
R5888:Cacul1	UTSW	19	60537464	missense	possibly damaging	0.62
R6629:Cacul1	UTSW	19	60580367	missense	probably benign	0.06
R6853:Cacul1	UTSW	19	60529466	nonsense	probably null
R6859:Cacul1	UTSW	19	60534245	missense	probably damaging	1.00
R7486:Cacul1	UTSW	19	60580430	missense	probably benign	0.08
R8262:Cacul1	UTSW	19	60529037	makesense	probably null
R8358:Cacul1	UTSW	19	60563235	missense	possibly damaging	0.75
R8889:Cacul1	UTSW	19	60580522	missense	probably damaging	0.99
R9357:Cacul1	UTSW	19	60545504	missense	probably benign	0.00
X0027:Cacul1	UTSW	19	60543052	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAAGTGGAGTTACTCTCAGGGC -3'
(R):5'- ACCTACGAGGCAATGATGGACGAC -3'

Sequencing Primer
(F):5'- AGGGACAGACTCACGGAACTT -3'
(R):5'- CAGTTTccgccagcctc -3'

Posted On

2014-03-28