Mutagenetix > Incidental Mutation

Incidental Mutation 'R9357:Cacul1'

708486

Institutional Source

Beutler Lab

Gene Symbol

Cacul1

Ensembl Gene

ENSMUSG00000033417

Gene Name

CDK2 associated, cullin domain 1

Synonyms

2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9357 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60513143-60569420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60533942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 220 (I220T)

Ref Sequence

ENSEMBL: ENSMUSP00000080480 (fasta)

Gene Model

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

AlphaFold

Q8R0X2

Predicted Effect

probably benign
Transcript: ENSMUST00000081790
AA Change: I220T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: I220T

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
AA Change: I220T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: I220T

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: I220T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: I220T

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,696 (GRCm39)	V900A	probably benign	Het
Adam28	C	T	14: 68,879,479 (GRCm39)	A190T	probably benign	Het
Ager	T	C	17: 34,817,541 (GRCm39)	V116A	probably damaging	Het
Agt	G	T	8: 125,291,065 (GRCm39)	H81N	probably benign	Het
Apc2	T	C	10: 80,146,872 (GRCm39)	V642A	probably damaging	Het
Atg4b	C	T	1: 93,713,648 (GRCm39)	T325M	probably damaging	Het
Atp10b	A	G	11: 43,150,711 (GRCm39)	S1470G	probably benign	Het
Ccdc7a	T	C	8: 129,671,136 (GRCm39)		probably null	Het
Cnnm1	A	C	19: 43,429,827 (GRCm39)	D315A	probably damaging	Het
Fbxo24	A	G	5: 137,611,096 (GRCm39)	F565L	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,211 (GRCm39)	S73T	probably damaging	Het
Gbp7	T	C	3: 142,248,889 (GRCm39)	V384A	probably benign	Het
Gcnt2	A	T	13: 41,041,732 (GRCm39)	H297L	possibly damaging	Het
Glo1	T	C	17: 30,831,518 (GRCm39)	E3G	probably benign	Het
Gsdmc4	T	C	15: 63,772,196 (GRCm39)	D161G	probably benign	Het
Ifi213	T	A	1: 173,396,392 (GRCm39)	M561L	probably benign	Het
Ighv1-63	A	G	12: 115,459,478 (GRCm39)	S40P	probably damaging	Het
Itpr2	A	G	6: 146,260,814 (GRCm39)	L971P	probably damaging	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Map1b	A	T	13: 99,566,708 (GRCm39)	Y2004*	probably null	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mug1	A	G	6: 121,852,450 (GRCm39)	D846G	probably benign	Het
Myh7b	A	G	2: 155,463,268 (GRCm39)	E500G	probably damaging	Het
Myo18a	C	T	11: 77,733,014 (GRCm39)	T1348M	probably damaging	Het
Myo7b	A	T	18: 32,093,129 (GRCm39)	I2027N	probably damaging	Het
Neb	T	C	2: 52,069,580 (GRCm39)		probably null	Het
Obscn	G	A	11: 58,929,592 (GRCm39)	R5208C	probably damaging	Het
Parg	G	A	14: 31,996,874 (GRCm39)	D827N	probably damaging	Het
Pcdha6	A	T	18: 37,102,226 (GRCm39)	H473L	probably benign	Het
Pde4dip	A	G	3: 97,625,645 (GRCm39)	S1318P	probably benign	Het
Ppan	T	C	9: 20,801,220 (GRCm39)	S166P	possibly damaging	Het
Ppargc1b	C	A	18: 61,448,939 (GRCm39)	A128S	probably damaging	Het
Rdh16f2	T	A	10: 127,712,915 (GRCm39)	D304E	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,260,448 (GRCm39)	L435Q	probably damaging	Het
Slc35d1	A	T	4: 103,065,333 (GRCm39)	Y183N		Het
Sspo	T	C	6: 48,443,989 (GRCm39)	S2166P	possibly damaging	Het
Tent5a	A	T	9: 85,208,672 (GRCm39)	N50K	probably benign	Het
Twf2	T	C	9: 106,092,100 (GRCm39)	F319S	probably benign	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vmn1r3	T	G	4: 3,185,149 (GRCm39)	T53P	probably damaging	Het
Vmn2r76	T	C	7: 85,880,428 (GRCm39)	E86G	probably benign	Het
Wdtc1	A	G	4: 133,023,782 (GRCm39)	Y530H	probably damaging	Het
Xdh	A	G	17: 74,214,711 (GRCm39)	F745L	probably damaging	Het
Xdh	A	C	17: 74,233,541 (GRCm39)		probably null	Het
Zfp358	T	C	8: 3,545,568 (GRCm39)	L50P	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
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
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'- TCTGTAAACTGACTCAGGAATGG -3'
(R):5'- CCAGGTCCTAATATGGTTTGATTCC -3'

Sequencing Primer
(F):5'- GTGACAGAGCTCTAACTTACC -3'
(R):5'- AAGTGTCATAGAATAGACTTTGGAAC -3'

Posted On

2022-04-18