Mutagenetix > Incidental Mutation

Incidental Mutation 'R4540:Cul9'

333512

Institutional Source

Beutler Lab

Gene Symbol

Cul9

Ensembl Gene

ENSMUSG00000040327

Gene Name

cullin 9

Synonyms

Parc, 1810035I07Rik

MMRRC Submission

041776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R4540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46811535-46857314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46814015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 2286 (M2286I)

Ref Sequence

ENSEMBL: ENSMUSP00000138418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046497] [ENSMUST00000066026] [ENSMUST00000182485]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046497

SMART Domains

Protein: ENSMUSP00000045283
Gene: ENSMUSG00000040658

Domain	Start	End	E-Value	Type
Pfam:Nuc_deoxyrib_tr	12	144	3.8e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000066026
AA Change: M2286I

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: M2286I

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:Cul7	367	441	1e-35	PFAM
low complexity region	447	460	N/A	INTRINSIC
low complexity region	525	540	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	873	880	N/A	INTRINSIC
APC10	1166	1325	1.97e-56	SMART
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1563	1578	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
Cullin_Nedd8	1867	1950	7.55e-6	SMART
Blast:RING	2074	2122	2e-13	BLAST
IBR	2144	2207	8.99e-14	SMART
IBR	2228	2283	4.66e-2	SMART
low complexity region	2503	2520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182315

Predicted Effect

probably null
Transcript: ENSMUST00000182485
AA Change: M2286I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: M2286I

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	119	131	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:Cul7	367	442	1.4e-33	PFAM
low complexity region	447	460	N/A	INTRINSIC
low complexity region	525	540	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
low complexity region	873	880	N/A	INTRINSIC
APC10	1166	1325	1.97e-56	SMART
low complexity region	1437	1450	N/A	INTRINSIC
low complexity region	1563	1578	N/A	INTRINSIC
low complexity region	1646	1671	N/A	INTRINSIC
Cullin_Nedd8	1867	1950	7.55e-6	SMART
Blast:RING	2074	2122	3e-13	BLAST
IBR	2144	2207	8.99e-14	SMART
IBR	2228	2283	4.66e-2	SMART
coiled coil region	2461	2497	N/A	INTRINSIC
low complexity region	2513	2530	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183312

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, increased incidence of tumors, and decreased cellular sensitivity to radiation-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,119 (GRCm39)	H164L	probably damaging	Het
Arrdc3	C	A	13: 81,038,790 (GRCm39)	R31S	possibly damaging	Het
Baiap3	C	T	17: 25,465,644 (GRCm39)	V585M	probably damaging	Het
Braf	A	G	6: 39,621,267 (GRCm39)	S391P	probably damaging	Het
Ccdc51	T	C	9: 108,921,288 (GRCm39)	F392L	possibly damaging	Het
Cd1d1	A	G	3: 86,904,012 (GRCm39)	I194T	probably benign	Het
Cep162	T	C	9: 87,094,992 (GRCm39)	K806E	probably damaging	Het
Cntn4	A	G	6: 106,652,709 (GRCm39)	E726G	probably damaging	Het
Col11a1	A	G	3: 113,890,815 (GRCm39)	Y384C	unknown	Het
Cops3	A	T	11: 59,720,980 (GRCm39)	L145H	probably damaging	Het
Echdc1	G	A	10: 29,220,578 (GRCm39)	V245I	probably benign	Het
Fsip2	A	T	2: 82,782,009 (GRCm39)	M261L	probably benign	Het
Gm4353	A	G	7: 115,683,212 (GRCm39)	L123P	probably benign	Het
Hcfc2	G	C	10: 82,568,481 (GRCm39)	E42Q	probably benign	Het
Hfm1	A	C	5: 107,022,087 (GRCm39)	Y199*	probably null	Het
Iba57	G	A	11: 59,053,904 (GRCm39)		probably benign	Het
Ihh	T	A	1: 74,987,558 (GRCm39)	N161I	possibly damaging	Het
Kcnh7	A	G	2: 62,569,530 (GRCm39)	S789P	probably damaging	Het
Kndc1	C	A	7: 139,501,343 (GRCm39)	C877*	probably null	Het
Lhcgr	A	G	17: 89,063,036 (GRCm39)	I212T	probably benign	Het
Lrrtm2	T	A	18: 35,346,199 (GRCm39)	T368S	probably benign	Het
Mag	A	C	7: 30,600,154 (GRCm39)	V500G	probably damaging	Het
Nadsyn1	A	G	7: 143,356,960 (GRCm39)	V512A	probably damaging	Het
Nlrp3	G	A	11: 59,442,725 (GRCm39)	C759Y	possibly damaging	Het
Nup107	T	C	10: 117,597,925 (GRCm39)		probably null	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or4f56	T	C	2: 111,703,546 (GRCm39)	Y218C	probably damaging	Het
Pcdha1	A	C	18: 37,064,680 (GRCm39)	D448A	probably damaging	Het
Pitrm1	T	A	13: 6,605,506 (GRCm39)		probably null	Het
Pth2r	A	G	1: 65,321,360 (GRCm39)	N13S	probably benign	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Selenoi	A	G	5: 30,461,085 (GRCm39)	D107G	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Spag17	C	T	3: 99,995,697 (GRCm39)	P1779S	probably damaging	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Tbc1d30	T	C	10: 121,115,063 (GRCm39)	E365G	probably damaging	Het
Tnxb	C	T	17: 34,922,309 (GRCm39)	T2374I	possibly damaging	Het
Trip12	A	G	1: 84,726,997 (GRCm39)	I1T	probably damaging	Het

Other mutations in Cul9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Cul9	APN	17	46,836,635 (GRCm39)	missense	probably damaging	1.00
IGL00330:Cul9	APN	17	46,821,767 (GRCm39)	splice site	probably benign
IGL00726:Cul9	APN	17	46,839,022 (GRCm39)	missense	probably damaging	1.00
IGL01020:Cul9	APN	17	46,849,949 (GRCm39)	missense	probably damaging	1.00
IGL01358:Cul9	APN	17	46,849,240 (GRCm39)	missense	probably damaging	1.00
IGL01410:Cul9	APN	17	46,839,572 (GRCm39)	missense	probably damaging	0.99
IGL01781:Cul9	APN	17	46,850,230 (GRCm39)	missense	probably benign
IGL01873:Cul9	APN	17	46,813,378 (GRCm39)	missense	probably damaging	0.99
IGL02117:Cul9	APN	17	46,851,301 (GRCm39)	missense	probably benign	0.00
IGL02300:Cul9	APN	17	46,831,958 (GRCm39)	splice site	probably benign
IGL02426:Cul9	APN	17	46,834,184 (GRCm39)	missense	possibly damaging	0.95
IGL02427:Cul9	APN	17	46,813,558 (GRCm39)	missense	possibly damaging	0.69
IGL02496:Cul9	APN	17	46,851,302 (GRCm39)	missense	possibly damaging	0.72
IGL03008:Cul9	APN	17	46,813,623 (GRCm39)	splice site	probably benign
IGL03059:Cul9	APN	17	46,849,913 (GRCm39)	missense	probably damaging	0.98
IGL03302:Cul9	APN	17	46,837,566 (GRCm39)	missense	probably damaging	0.98
bottlenose	UTSW	17	46,811,770 (GRCm39)	missense	possibly damaging	0.79
flipper	UTSW	17	46,836,818 (GRCm39)	missense	probably benign	0.05
orca	UTSW	17	46,836,061 (GRCm39)	missense	probably damaging	1.00
FR4340:Cul9	UTSW	17	46,811,779 (GRCm39)	small insertion	probably benign
FR4449:Cul9	UTSW	17	46,811,782 (GRCm39)	small insertion	probably benign
FR4737:Cul9	UTSW	17	46,811,784 (GRCm39)	small insertion	probably benign
FR4737:Cul9	UTSW	17	46,811,772 (GRCm39)	small insertion	probably benign
FR4976:Cul9	UTSW	17	46,811,779 (GRCm39)	small insertion	probably benign
FR4976:Cul9	UTSW	17	46,811,776 (GRCm39)	small insertion	probably benign
FR4976:Cul9	UTSW	17	46,811,774 (GRCm39)	small insertion	probably benign
FR4976:Cul9	UTSW	17	46,811,782 (GRCm39)	small insertion	probably benign
R0012:Cul9	UTSW	17	46,849,436 (GRCm39)	missense	probably benign	0.26
R0079:Cul9	UTSW	17	46,848,589 (GRCm39)	nonsense	probably null
R0143:Cul9	UTSW	17	46,837,336 (GRCm39)	missense	possibly damaging	0.65
R0390:Cul9	UTSW	17	46,839,515 (GRCm39)	missense	probably benign	0.34
R0401:Cul9	UTSW	17	46,852,630 (GRCm39)	missense	probably damaging	1.00
R0529:Cul9	UTSW	17	46,831,394 (GRCm39)	splice site	probably benign
R0815:Cul9	UTSW	17	46,848,748 (GRCm39)	splice site	probably null
R0863:Cul9	UTSW	17	46,848,748 (GRCm39)	splice site	probably null
R0972:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1173:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1216:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1217:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1261:Cul9	UTSW	17	46,836,708 (GRCm39)	missense	probably damaging	1.00
R1278:Cul9	UTSW	17	46,811,775 (GRCm39)	small deletion	probably benign
R1281:Cul9	UTSW	17	46,822,460 (GRCm39)	missense	probably damaging	1.00
R1349:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1372:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1403:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1403:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1405:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1405:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R1467:Cul9	UTSW	17	46,836,299 (GRCm39)	missense	probably damaging	1.00
R1467:Cul9	UTSW	17	46,836,299 (GRCm39)	missense	probably damaging	1.00
R1482:Cul9	UTSW	17	46,819,473 (GRCm39)	missense	probably damaging	0.99
R1491:Cul9	UTSW	17	46,849,490 (GRCm39)	nonsense	probably null
R1618:Cul9	UTSW	17	46,836,818 (GRCm39)	missense	probably benign	0.05
R1641:Cul9	UTSW	17	46,854,486 (GRCm39)	missense	possibly damaging	0.96
R1679:Cul9	UTSW	17	46,832,082 (GRCm39)	missense	possibly damaging	0.90
R1771:Cul9	UTSW	17	46,848,738 (GRCm39)	missense	probably benign	0.41
R1803:Cul9	UTSW	17	46,814,023 (GRCm39)	missense	probably damaging	1.00
R2020:Cul9	UTSW	17	46,833,101 (GRCm39)	missense	probably damaging	1.00
R2046:Cul9	UTSW	17	46,854,659 (GRCm39)	missense	probably damaging	1.00
R2056:Cul9	UTSW	17	46,854,298 (GRCm39)	missense	probably benign
R2088:Cul9	UTSW	17	46,837,575 (GRCm39)	missense	probably damaging	1.00
R2415:Cul9	UTSW	17	46,854,364 (GRCm39)	missense	probably benign
R2925:Cul9	UTSW	17	46,821,907 (GRCm39)	missense	probably benign	0.08
R2964:Cul9	UTSW	17	46,813,154 (GRCm39)	missense	probably damaging	0.96
R2965:Cul9	UTSW	17	46,813,154 (GRCm39)	missense	probably damaging	0.96
R3690:Cul9	UTSW	17	46,814,957 (GRCm39)	splice site	probably null
R3847:Cul9	UTSW	17	46,836,061 (GRCm39)	missense	probably damaging	1.00
R4437:Cul9	UTSW	17	46,813,085 (GRCm39)	missense	probably damaging	1.00
R4470:Cul9	UTSW	17	46,849,262 (GRCm39)	missense	probably benign	0.00
R4555:Cul9	UTSW	17	46,812,755 (GRCm39)	missense	possibly damaging	0.82
R4604:Cul9	UTSW	17	46,841,072 (GRCm39)	missense	probably damaging	0.99
R4646:Cul9	UTSW	17	46,849,943 (GRCm39)	nonsense	probably null
R4799:Cul9	UTSW	17	46,811,770 (GRCm39)	missense	possibly damaging	0.79
R4822:Cul9	UTSW	17	46,840,977 (GRCm39)	missense	probably benign	0.01
R4964:Cul9	UTSW	17	46,849,451 (GRCm39)	missense	probably damaging	1.00
R4965:Cul9	UTSW	17	46,849,451 (GRCm39)	missense	probably damaging	1.00
R5027:Cul9	UTSW	17	46,811,708 (GRCm39)	missense	probably damaging	0.99
R5185:Cul9	UTSW	17	46,836,758 (GRCm39)	missense	possibly damaging	0.95
R5237:Cul9	UTSW	17	46,854,393 (GRCm39)	missense	probably benign	0.00
R5278:Cul9	UTSW	17	46,821,799 (GRCm39)	missense	probably damaging	1.00
R5361:Cul9	UTSW	17	46,811,775 (GRCm39)	small deletion	probably benign
R5455:Cul9	UTSW	17	46,821,772 (GRCm39)	splice site	probably null
R5592:Cul9	UTSW	17	46,831,517 (GRCm39)	missense	probably benign	0.00
R5597:Cul9	UTSW	17	46,813,591 (GRCm39)	missense	possibly damaging	0.56
R5613:Cul9	UTSW	17	46,814,770 (GRCm39)	missense	probably damaging	1.00
R6122:Cul9	UTSW	17	46,832,854 (GRCm39)	missense	possibly damaging	0.72
R6135:Cul9	UTSW	17	46,832,379 (GRCm39)	missense	probably benign
R6352:Cul9	UTSW	17	46,822,241 (GRCm39)	missense	probably benign	0.00
R6376:Cul9	UTSW	17	46,819,489 (GRCm39)	missense	probably damaging	1.00
R6868:Cul9	UTSW	17	46,833,109 (GRCm39)	missense	possibly damaging	0.73
R6898:Cul9	UTSW	17	46,821,952 (GRCm39)	missense	possibly damaging	0.87
R7090:Cul9	UTSW	17	46,811,765 (GRCm39)	missense	probably damaging	0.96
R7193:Cul9	UTSW	17	46,849,423 (GRCm39)	missense	probably damaging	0.98
R7221:Cul9	UTSW	17	46,839,491 (GRCm39)	missense	probably damaging	0.99
R7291:Cul9	UTSW	17	46,851,359 (GRCm39)	missense	probably benign	0.00
R7320:Cul9	UTSW	17	46,821,835 (GRCm39)	missense	possibly damaging	0.80
R7348:Cul9	UTSW	17	46,821,919 (GRCm39)	missense	possibly damaging	0.89
R7463:Cul9	UTSW	17	46,831,402 (GRCm39)	splice site	probably null
R7480:Cul9	UTSW	17	46,848,738 (GRCm39)	missense	probably benign	0.41
R7573:Cul9	UTSW	17	46,830,836 (GRCm39)	missense	probably benign
R7582:Cul9	UTSW	17	46,821,905 (GRCm39)	missense	probably damaging	1.00
R7605:Cul9	UTSW	17	46,852,658 (GRCm39)	missense	probably damaging	0.99
R7684:Cul9	UTSW	17	46,820,815 (GRCm39)	missense	probably damaging	1.00
R7830:Cul9	UTSW	17	46,851,237 (GRCm39)	missense	probably benign	0.37
R7834:Cul9	UTSW	17	46,836,630 (GRCm39)	splice site	probably null
R8131:Cul9	UTSW	17	46,822,168 (GRCm39)	missense	probably damaging	1.00
R8192:Cul9	UTSW	17	46,849,273 (GRCm39)	missense	probably benign	0.01
R8231:Cul9	UTSW	17	46,831,427 (GRCm39)	missense	probably damaging	0.99
R8248:Cul9	UTSW	17	46,840,940 (GRCm39)	missense	probably damaging	0.99
R8504:Cul9	UTSW	17	46,814,506 (GRCm39)	missense	probably damaging	1.00
R8550:Cul9	UTSW	17	46,830,772 (GRCm39)	missense	probably damaging	1.00
R8716:Cul9	UTSW	17	46,838,840 (GRCm39)	missense	probably benign	0.28
R8769:Cul9	UTSW	17	46,832,828 (GRCm39)	missense	possibly damaging	0.85
R8893:Cul9	UTSW	17	46,811,775 (GRCm39)	small deletion	probably benign
R8904:Cul9	UTSW	17	46,831,427 (GRCm39)	missense	probably damaging	0.99
R8936:Cul9	UTSW	17	46,839,528 (GRCm39)	missense	possibly damaging	0.82
R8972:Cul9	UTSW	17	46,854,177 (GRCm39)	missense	probably damaging	1.00
R9003:Cul9	UTSW	17	46,836,001 (GRCm39)	missense	possibly damaging	0.78
R9012:Cul9	UTSW	17	46,854,447 (GRCm39)	missense	probably benign
R9056:Cul9	UTSW	17	46,854,696 (GRCm39)	missense	probably damaging	0.99
R9071:Cul9	UTSW	17	46,837,379 (GRCm39)	missense	probably benign
R9162:Cul9	UTSW	17	46,837,529 (GRCm39)	missense	probably benign	0.32
R9476:Cul9	UTSW	17	46,821,833 (GRCm39)	missense	probably damaging	1.00
R9526:Cul9	UTSW	17	46,841,026 (GRCm39)	missense	probably benign	0.41
R9563:Cul9	UTSW	17	46,820,897 (GRCm39)	missense	probably benign	0.01
R9568:Cul9	UTSW	17	46,831,044 (GRCm39)	missense	possibly damaging	0.56
R9610:Cul9	UTSW	17	46,830,823 (GRCm39)	missense	possibly damaging	0.96
R9611:Cul9	UTSW	17	46,830,823 (GRCm39)	missense	possibly damaging	0.96
R9705:Cul9	UTSW	17	46,854,226 (GRCm39)	missense	probably damaging	1.00
R9765:Cul9	UTSW	17	46,850,224 (GRCm39)	missense	probably benign	0.18
RF011:Cul9	UTSW	17	46,811,774 (GRCm39)	small insertion	probably benign
RF016:Cul9	UTSW	17	46,811,789 (GRCm39)	nonsense	probably null
RF026:Cul9	UTSW	17	46,811,795 (GRCm39)	nonsense	probably null
RF027:Cul9	UTSW	17	46,811,774 (GRCm39)	small insertion	probably benign
RF030:Cul9	UTSW	17	46,811,795 (GRCm39)	small insertion	probably benign
RF033:Cul9	UTSW	17	46,811,780 (GRCm39)	small insertion	probably benign
RF039:Cul9	UTSW	17	46,811,780 (GRCm39)	small insertion	probably benign
RF041:Cul9	UTSW	17	46,811,780 (GRCm39)	nonsense	probably null
RF042:Cul9	UTSW	17	46,851,541 (GRCm39)	frame shift	probably null
RF057:Cul9	UTSW	17	46,811,789 (GRCm39)	nonsense	probably null
Z1176:Cul9	UTSW	17	46,831,511 (GRCm39)	nonsense	probably null
Z1176:Cul9	UTSW	17	46,831,502 (GRCm39)	nonsense	probably null
Z1177:Cul9	UTSW	17	46,848,723 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGGCTTTCTTTGGTCACCTG -3'
(R):5'- CACCCAGGTTTTAAGTTGGC -3'

Sequencing Primer
(F):5'- CTGGGTGGAGGCAGAGTTCC -3'
(R):5'- CCCAGAGGAAGAGTGTATTTAGC -3'

Posted On

2015-08-18