Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03302:Cul9'

416269

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 #

IGL03302

Quality Score

Status

Chromosome

Chromosomal Location

46811535-46857314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46837566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 993 (E993G)

Ref Sequence

ENSEMBL: ENSMUSP00000138418 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066026
AA Change: E993G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: E993G

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: E993G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: E993G

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: ENSMUST00000182668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182799

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,858,576 (GRCm39)	Y542F	possibly damaging	Het
Ankrd34b	A	T	13: 92,576,151 (GRCm39)	N461I	possibly damaging	Het
Ccl24	T	C	5: 135,599,732 (GRCm39)	K93E	probably benign	Het
Ccr9	T	A	9: 123,608,601 (GRCm39)	D94E	probably damaging	Het
Cd79a	G	A	7: 24,598,759 (GRCm39)	V103M	probably damaging	Het
Ces1e	A	G	8: 93,950,521 (GRCm39)		probably null	Het
Cyp4a14	T	C	4: 115,348,575 (GRCm39)	I330V	probably benign	Het
Cyp7a1	T	C	4: 6,273,801 (GRCm39)	D35G	probably benign	Het
Dmpk	C	A	7: 18,820,411 (GRCm39)		probably benign	Het
Gcnt1	G	T	19: 17,306,547 (GRCm39)	R393S	probably benign	Het
Lctl	C	T	9: 64,042,130 (GRCm39)		probably benign	Het
Mttp	A	T	3: 137,810,468 (GRCm39)	I664N	possibly damaging	Het
Myh1	C	T	11: 67,102,328 (GRCm39)	A873V	probably benign	Het
Nedd9	A	G	13: 41,492,330 (GRCm39)	V54A	probably damaging	Het
Or3a1b	T	G	11: 74,012,459 (GRCm39)	C115G	possibly damaging	Het
Or4f14	A	T	2: 111,743,167 (GRCm39)	V36E	possibly damaging	Het
Or6b1	G	T	6: 42,814,937 (GRCm39)	E41*	probably null	Het
Pak6	A	T	2: 118,523,784 (GRCm39)	E313V	probably benign	Het
Pla2g4a	A	G	1: 149,740,698 (GRCm39)	S402P	probably benign	Het
Polq	T	C	16: 36,892,134 (GRCm39)	M2012T	probably damaging	Het
Ppp1r12b	A	T	1: 134,765,788 (GRCm39)		probably benign	Het
Rbp3	A	G	14: 33,676,616 (GRCm39)	H188R	probably damaging	Het
Rps6ka2	C	A	17: 7,566,787 (GRCm39)	Q682K	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Spag4	A	G	2: 155,910,340 (GRCm39)	Q322R	probably damaging	Het
Spef2	T	C	15: 9,676,466 (GRCm39)	T702A	probably benign	Het
Spmap2l	T	G	5: 77,202,423 (GRCm39)	S281R	probably benign	Het
Taf3	G	T	2: 9,956,942 (GRCm39)	F408L	probably damaging	Het
Tead2	T	G	7: 44,882,323 (GRCm39)	Y121D	possibly damaging	Het
Tmco5	A	T	2: 116,722,760 (GRCm39)	T294S	probably damaging	Het
Trim37	A	G	11: 87,037,827 (GRCm39)	E187G	possibly damaging	Het
Ubb	T	A	11: 62,443,243 (GRCm39)	L91Q	probably damaging	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Zan	T	C	5: 137,466,652 (GRCm39)	S402G	possibly damaging	Het
Zc3h7a	T	A	16: 10,959,574 (GRCm39)	H793L	probably damaging	Het
Zfhx4	C	T	3: 5,468,773 (GRCm39)	T2977I	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
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
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

2016-08-02