Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01020:Cul9'

54059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cul9

Ensembl Gene

ENSMUSG00000040327

Gene Name

cullin 9

Synonyms

Parc, 1810035I07Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01020

Quality Score

Status

Chromosome

Chromosomal Location

46811535-46857314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46849949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 500 (E500G)

Ref Sequence

ENSEMBL: ENSMUSP00000138418 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066026
AA Change: E500G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: E500G

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

noncoding transcript
Transcript: ENSMUST00000182451

Predicted Effect

probably damaging
Transcript: ENSMUST00000182485
AA Change: E500G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: E500G

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: ENSMUST00000183163

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	T	G	1: 176,958,533 (GRCm39)		probably benign	Het
Aldh18a1	C	T	19: 40,557,625 (GRCm39)		probably benign	Het
Arhgap32	A	G	9: 32,168,657 (GRCm39)	H880R	probably benign	Het
Arhgef7	G	A	8: 11,832,540 (GRCm39)	S5N	probably damaging	Het
Atp6v1e1	T	C	6: 120,785,372 (GRCm39)	M40V	possibly damaging	Het
Atr	T	C	9: 95,744,836 (GRCm39)	V51A	probably damaging	Het
Atxn10	A	G	15: 85,259,623 (GRCm39)		probably null	Het
Btbd16	T	A	7: 130,426,091 (GRCm39)	I502N	probably damaging	Het
Celsr2	G	T	3: 108,310,586 (GRCm39)	L1499M	probably damaging	Het
Cfl1	C	T	19: 5,543,709 (GRCm39)		probably benign	Het
Dusp3	G	T	11: 101,875,470 (GRCm39)	N31K	probably benign	Het
Erbb4	A	T	1: 68,337,608 (GRCm39)		probably benign	Het
Fam234b	G	A	6: 135,188,904 (GRCm39)	V170M	probably benign	Het
Fign	A	G	2: 63,809,354 (GRCm39)	S639P	probably damaging	Het
Gbp7	A	G	3: 142,248,618 (GRCm39)	T294A	probably benign	Het
Golm2	G	A	2: 121,756,203 (GRCm39)	V411I	probably benign	Het
Ift80	C	T	3: 68,871,012 (GRCm39)	D195N	probably damaging	Het
Kif21b	G	T	1: 136,081,832 (GRCm39)		probably benign	Het
Kif2c	A	T	4: 117,024,101 (GRCm39)	F397I	probably damaging	Het
Lamc3	T	C	2: 31,804,668 (GRCm39)	V567A	probably benign	Het
Letmd1	T	C	15: 100,369,640 (GRCm39)	M36T	probably damaging	Het
Lrp1b	A	G	2: 40,888,259 (GRCm39)	W2220R	probably damaging	Het
Mical2	T	A	7: 111,914,283 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,973 (GRCm39)	D691G	possibly damaging	Het
Myh8	G	A	11: 67,174,229 (GRCm39)	V189M	probably damaging	Het
Myo9b	G	A	8: 71,804,644 (GRCm39)	R1418K	probably benign	Het
Nkpd1	G	A	7: 19,252,674 (GRCm39)	V7M	possibly damaging	Het
Nrxn2	G	A	19: 6,543,473 (GRCm39)	V1116I	probably benign	Het
Nynrin	A	G	14: 56,105,905 (GRCm39)	M875V	probably benign	Het
Oat	T	C	7: 132,168,902 (GRCm39)		probably null	Het
Or7g35	G	A	9: 19,496,616 (GRCm39)	S261N	possibly damaging	Het
Or8g24	A	C	9: 38,989,747 (GRCm39)	I98R	probably damaging	Het
Prkaa2	C	T	4: 104,932,659 (GRCm39)	R63Q	probably damaging	Het
Psg29	T	A	7: 16,942,657 (GRCm39)	S219R	probably benign	Het
Ptprc	T	C	1: 138,047,911 (GRCm39)		probably null	Het
Pwwp2b	G	T	7: 138,834,771 (GRCm39)	E71*	probably null	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina9	T	A	12: 103,974,845 (GRCm39)	N103Y	probably damaging	Het
Sis	T	C	3: 72,874,171 (GRCm39)	E10G	probably damaging	Het
Tbck	C	T	3: 132,432,903 (GRCm39)	Q438*	probably null	Het
Thnsl1	T	C	2: 21,217,305 (GRCm39)	L353S	probably damaging	Het
Tmem237	C	A	1: 59,146,612 (GRCm39)		probably null	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Zbtb2	A	G	10: 4,319,702 (GRCm39)	I108T	probably benign	Het
Zfp345	T	C	2: 150,314,967 (GRCm39)	N190S	possibly 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
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
R4540:Cul9	UTSW	17	46,814,015 (GRCm39)	missense	probably null	0.98
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

Posted On

2013-06-28