Mutagenetix > Incidental Mutation

Incidental Mutation 'R6898:Cul9'

538475

Institutional Source

Beutler Lab

Gene Symbol

Cul9

Ensembl Gene

ENSMUSG00000040327

Gene Name

cullin 9

Synonyms

Parc, 1810035I07Rik

MMRRC Submission

044992-MU

Accession Numbers

Essential gene?

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

Stock #

R6898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46811535-46857314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46821952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 1841 (R1841M)

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: R1841M

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067736
Gene: ENSMUSG00000040327
AA Change: R1841M

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

possibly damaging
Transcript: ENSMUST00000182485
AA Change: R1841M

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138418
Gene: ENSMUSG00000040327
AA Change: R1841M

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (46/46)

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
Ankrd7	G	T	6: 18,868,100 (GRCm39)		probably null	Het
Aoc1l2	A	T	6: 48,907,975 (GRCm39)	Y325F	probably damaging	Het
Aplnr	A	T	2: 84,970,155 (GRCm39)		probably benign	Het
Capns2	T	C	8: 93,628,605 (GRCm39)	S165P	probably damaging	Het
Col25a1	T	C	3: 130,378,377 (GRCm39)		probably null	Het
Crocc2	T	C	1: 93,143,304 (GRCm39)	V1302A	probably benign	Het
Dnhd1	T	C	7: 105,336,584 (GRCm39)	L1213P	probably damaging	Het
Dscam	A	T	16: 96,631,100 (GRCm39)	I305K	probably benign	Het
Dsp	A	G	13: 38,376,193 (GRCm39)	E1326G	possibly damaging	Het
Eif4a3l1	T	A	6: 136,305,617 (GRCm39)	V26E	probably benign	Het
Emc9	A	G	14: 55,822,367 (GRCm39)		probably null	Het
Eppk1	A	C	15: 75,996,126 (GRCm39)	S252A	probably benign	Het
Fn1	T	A	1: 71,639,572 (GRCm39)	T1830S	probably damaging	Het
Fryl	A	T	5: 73,179,485 (GRCm39)	M2974K	probably damaging	Het
Gdpd3	C	A	7: 126,370,201 (GRCm39)	S250*	probably null	Het
Gnl3	A	T	14: 30,735,136 (GRCm39)	S485R	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hsd17b3	T	C	13: 64,207,339 (GRCm39)	Y234C	probably benign	Het
Lima1	T	C	15: 99,679,148 (GRCm39)	H271R	possibly damaging	Het
Nfu1	G	A	6: 86,994,034 (GRCm39)		probably null	Het
Noto	A	G	6: 85,404,942 (GRCm39)	E97G	probably damaging	Het
Ntng1	T	C	3: 109,779,534 (GRCm39)	K348E	probably damaging	Het
Or2y13	G	A	11: 49,414,536 (GRCm39)		probably benign	Het
Or4a70	C	T	2: 89,324,594 (GRCm39)	G21R	possibly damaging	Het
Osmr	C	A	15: 6,845,364 (GRCm39)	V801F	probably damaging	Het
Papln	A	G	12: 83,824,234 (GRCm39)	E554G	probably benign	Het
Pitrm1	T	C	13: 6,605,495 (GRCm39)	L175P	probably damaging	Het
Pramel22	A	T	4: 143,382,053 (GRCm39)	N214K	probably damaging	Het
Pramel7	T	C	2: 87,320,070 (GRCm39)	T408A	probably damaging	Het
Serinc2	A	T	4: 130,149,235 (GRCm39)	D322E	probably benign	Het
Setx	T	C	2: 29,038,120 (GRCm39)	V1535A	probably benign	Het
Sgce	A	T	6: 4,689,666 (GRCm39)	V389E	probably damaging	Het
Snx11	G	A	11: 96,659,888 (GRCm39)	T267I	probably benign	Het
Spata6l	T	G	19: 28,921,688 (GRCm39)	Q146P	probably benign	Het
Specc1	G	A	11: 62,009,162 (GRCm39)	S306N	probably benign	Het
Spocd1	A	G	4: 129,850,305 (GRCm39)		probably benign	Het
St7	T	A	6: 17,854,945 (GRCm39)	V294D	probably damaging	Het
Stab1	C	T	14: 30,880,920 (GRCm39)	R624Q	probably benign	Het
Tcf21	T	C	10: 22,695,403 (GRCm39)	I134V	probably benign	Het
Tgfb2	T	A	1: 186,364,697 (GRCm39)	I266F	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,365 (GRCm39)	I209M	possibly damaging	Het
Tmcc3	A	G	10: 94,387,034 (GRCm39)		probably null	Het
Toe1	A	G	4: 116,664,671 (GRCm39)	S16P	probably damaging	Het
Vps16	T	C	2: 130,279,601 (GRCm39)	V38A	possibly damaging	Het
Wnk2	G	T	13: 49,224,557 (GRCm39)	D1001E	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
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
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'- ACCAGCTGATCGATGTGCAG -3'
(R):5'- TCACCTCTGACAATGGTCCTTTAAC -3'

Sequencing Primer
(F):5'- ATCGATGTGCAGGCCTTTC -3'
(R):5'- CAATGGTCCTTTAACACTGGAGG -3'

Posted On

2018-11-06