Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Crocc'

480390

Institutional Source

Beutler Lab

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R6031 (G1)

Quality Score

107.008

Status

Not validated

Chromosome

Chromosomal Location

140743948-140787861 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 140761668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040222] [ENSMUST00000097816] [ENSMUST00000102491] [ENSMUST00000168157]

AlphaFold

Q8CJ40

Predicted Effect

probably null
Transcript: ENSMUST00000040222

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000097816

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102491

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	77	93	N/A	INTRINSIC
Pfam:Rootletin	158	336	9.7e-65	PFAM
low complexity region	354	381	N/A	INTRINSIC
internal_repeat_2	462	479	1.77e-6	PROSPERO
low complexity region	493	514	N/A	INTRINSIC
internal_repeat_3	527	557	8.63e-6	PROSPERO
internal_repeat_6	533	556	4.21e-5	PROSPERO
low complexity region	561	575	N/A	INTRINSIC
low complexity region	576	594	N/A	INTRINSIC
low complexity region	617	638	N/A	INTRINSIC
low complexity region	788	807	N/A	INTRINSIC
low complexity region	863	880	N/A	INTRINSIC
low complexity region	1009	1039	N/A	INTRINSIC
internal_repeat_4	1050	1068	4.21e-5	PROSPERO
internal_repeat_7	1057	1070	9.31e-5	PROSPERO
internal_repeat_2	1057	1074	1.77e-6	PROSPERO
internal_repeat_4	1061	1078	4.21e-5	PROSPERO
internal_repeat_1	1076	1101	3.36e-8	PROSPERO
internal_repeat_7	1192	1205	9.31e-5	PROSPERO
low complexity region	1271	1288	N/A	INTRINSIC
internal_repeat_5	1302	1328	4.21e-5	PROSPERO
low complexity region	1354	1365	N/A	INTRINSIC
low complexity region	1417	1433	N/A	INTRINSIC
low complexity region	1434	1453	N/A	INTRINSIC
low complexity region	1461	1473	N/A	INTRINSIC
internal_repeat_6	1697	1720	4.21e-5	PROSPERO
low complexity region	1723	1740	N/A	INTRINSIC
coiled coil region	1744	1871	N/A	INTRINSIC
coiled coil region	1892	1996	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168157

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860

Domain	Start	End	E-Value	Type
Pfam:Rootletin	1	173	6.1e-48	PFAM
low complexity region	190	217	N/A	INTRINSIC
internal_repeat_2	298	315	1.08e-6	PROSPERO
low complexity region	329	350	N/A	INTRINSIC
internal_repeat_3	363	393	5.38e-6	PROSPERO
internal_repeat_6	369	392	2.67e-5	PROSPERO
low complexity region	397	411	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	453	474	N/A	INTRINSIC
low complexity region	624	643	N/A	INTRINSIC
low complexity region	699	716	N/A	INTRINSIC
low complexity region	845	875	N/A	INTRINSIC
internal_repeat_4	886	904	2.67e-5	PROSPERO
internal_repeat_7	893	906	5.96e-5	PROSPERO
internal_repeat_2	893	910	1.08e-6	PROSPERO
internal_repeat_4	897	914	2.67e-5	PROSPERO
internal_repeat_1	912	937	1.97e-8	PROSPERO
internal_repeat_7	1028	1041	5.96e-5	PROSPERO
low complexity region	1107	1124	N/A	INTRINSIC
internal_repeat_5	1138	1164	2.67e-5	PROSPERO
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1253	1269	N/A	INTRINSIC
low complexity region	1270	1289	N/A	INTRINSIC
low complexity region	1297	1309	N/A	INTRINSIC
internal_repeat_6	1533	1556	2.67e-5	PROSPERO
low complexity region	1559	1576	N/A	INTRINSIC
coiled coil region	1580	1707	N/A	INTRINSIC
coiled coil region	1728	1832	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.7%
20x: 88.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation show no apparent functional deficits in phototransduction and ciliary beating in sensory and motile cilia. However, photoreceptors degenerate over time, and lungs appear prone to pathological changes. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Gene trapped(3)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,084 (GRCm39)	Y304H	possibly damaging	Het
Add2	A	G	6: 86,075,655 (GRCm39)	E268G	probably damaging	Het
Akr1b1	A	C	6: 34,289,609 (GRCm39)	V67G	probably benign	Het
Alms1	A	T	6: 85,599,937 (GRCm39)	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,366,965 (GRCm39)	D1082V	probably damaging	Het
Asb6	A	G	2: 30,714,207 (GRCm39)	V301A	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atg7	T	A	6: 114,648,194 (GRCm39)	C31S	probably benign	Het
Camsap2	A	T	1: 136,208,176 (GRCm39)	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,820,877 (GRCm39)		probably null	Het
Ccdc63	T	C	5: 122,267,799 (GRCm39)	I56V	possibly damaging	Het
Cpd	T	C	11: 76,681,714 (GRCm39)	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,421,556 (GRCm39)		probably null	Het
Creb3l2	A	T	6: 37,311,369 (GRCm39)	D473E	probably benign	Het
Ctsd	A	T	7: 141,930,451 (GRCm39)	C364S	probably damaging	Het
Disp2	G	T	2: 118,620,275 (GRCm39)	V336L	probably benign	Het
Efr3b	A	G	12: 4,017,106 (GRCm39)	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,846,427 (GRCm39)	V230A	probably damaging	Het
Fat3	T	A	9: 15,899,788 (GRCm39)	T3082S	probably benign	Het
Frmd3	T	C	4: 74,105,688 (GRCm39)	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202 (GRCm39)	R185Q	probably benign	Het
Gatb	T	C	3: 85,520,818 (GRCm39)	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,503,820 (GRCm39)	Q127*	probably null	Het
Gfpt1	C	A	6: 87,063,302 (GRCm39)	T563N	probably damaging	Het
Gria1	A	G	11: 57,108,608 (GRCm39)	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,666,465 (GRCm39)	V305D	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iars1	T	C	13: 49,859,307 (GRCm39)	V9A	probably damaging	Het
Ipo4	G	A	14: 55,869,596 (GRCm39)	P355S	probably damaging	Het
Jade2	G	T	11: 51,717,413 (GRCm39)	C314*	probably null	Het
Kri1	T	C	9: 21,186,565 (GRCm39)	E597G	probably benign	Het
Mcub	A	G	3: 129,720,038 (GRCm39)	Y152H	probably damaging	Het
Med23	C	T	10: 24,779,646 (GRCm39)	R542*	probably null	Het
Ndc80	T	C	17: 71,818,483 (GRCm39)	N291S	probably benign	Het
Nop2	T	C	6: 125,110,529 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,896,218 (GRCm39)	N984S	probably damaging	Het
Ntm	A	C	9: 28,920,671 (GRCm39)	L86R	probably damaging	Het
Numa1	T	A	7: 101,661,219 (GRCm39)	D1847E	possibly damaging	Het
Odf2l	A	G	3: 144,845,624 (GRCm39)	Q334R	probably damaging	Het
Or10ak11	A	T	4: 118,687,588 (GRCm39)		probably null	Het
Or2ag2	C	T	7: 106,485,134 (GRCm39)	V297I	possibly damaging	Het
Or4a39	T	A	2: 89,237,316 (GRCm39)	T36S	probably damaging	Het
Or5ac17	T	C	16: 59,036,296 (GRCm39)	R227G	probably benign	Het
Or6ae1	A	T	7: 139,742,722 (GRCm39)	V47E	possibly damaging	Het
Or6c203	A	G	10: 129,010,224 (GRCm39)	V222A	probably benign	Het
Pacc1	A	G	1: 191,073,037 (GRCm39)	R153G	probably benign	Het
Pcdhb19	A	T	18: 37,630,776 (GRCm39)	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,006,352 (GRCm39)	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,464,764 (GRCm39)	F219L	probably damaging	Het
Rnf208	A	C	2: 25,133,776 (GRCm39)	T157P	probably damaging	Het
Scn8a	A	T	15: 100,881,865 (GRCm39)	D644V	probably damaging	Het
Thbs3	T	A	3: 89,125,401 (GRCm39)	C204S	probably damaging	Het
Tlr3	A	G	8: 45,851,565 (GRCm39)	I444T	probably damaging	Het
Trpm8	A	T	1: 88,282,191 (GRCm39)	I696F	possibly damaging	Het
Ttn	A	T	2: 76,660,941 (GRCm39)	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038 (GRCm39)	V139A	probably benign	Het
Uggt2	A	T	14: 119,308,238 (GRCm39)	V381D	probably benign	Het
Vgll3	T	A	16: 65,636,367 (GRCm39)	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,048,158 (GRCm39)	T78A	probably benign	Het
Vps13b	T	A	15: 35,472,114 (GRCm39)	L806M	probably damaging	Het
Vps13d	A	C	4: 144,895,079 (GRCm39)	H394Q	probably benign	Het
Wdr53	T	A	16: 32,075,536 (GRCm39)	V247D	probably damaging	Het
Wdr81	A	T	11: 75,338,695 (GRCm39)	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,809,732 (GRCm39)	D3G	possibly damaging	Het
Zfp93	G	T	7: 23,975,725 (GRCm39)	C570F	probably damaging	Het
Zfp943	C	T	17: 22,212,357 (GRCm39)	T481I	probably benign	Het

Other mutations in Crocc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Crocc	APN	4	140,749,423 (GRCm39)	missense	probably damaging	1.00
IGL01474:Crocc	APN	4	140,762,703 (GRCm39)	splice site	probably benign
IGL01859:Crocc	APN	4	140,756,601 (GRCm39)	missense	probably benign	0.07
IGL02161:Crocc	APN	4	140,761,302 (GRCm39)	missense	probably benign	0.01
IGL02244:Crocc	APN	4	140,765,231 (GRCm39)	missense	probably benign	0.00
IGL02970:Crocc	APN	4	140,757,557 (GRCm39)	missense	possibly damaging	0.49
N/A:Crocc	UTSW	4	140,749,057 (GRCm39)	missense	probably damaging	1.00
R0158:Crocc	UTSW	4	140,769,553 (GRCm39)	splice site	probably benign
R0280:Crocc	UTSW	4	140,755,737 (GRCm39)	missense	probably damaging	1.00
R0448:Crocc	UTSW	4	140,769,502 (GRCm39)	missense	probably damaging	1.00
R0532:Crocc	UTSW	4	140,757,558 (GRCm39)	missense	possibly damaging	0.95
R0597:Crocc	UTSW	4	140,744,382 (GRCm39)	missense	probably benign
R0597:Crocc	UTSW	4	140,747,224 (GRCm39)	missense	probably benign	0.06
R0761:Crocc	UTSW	4	140,774,387 (GRCm39)	missense	probably benign	0.01
R0761:Crocc	UTSW	4	140,757,087 (GRCm39)	missense	probably benign	0.00
R1238:Crocc	UTSW	4	140,762,675 (GRCm39)	missense	probably benign	0.00
R1460:Crocc	UTSW	4	140,756,551 (GRCm39)	nonsense	probably null
R1515:Crocc	UTSW	4	140,747,048 (GRCm39)	missense	probably benign	0.00
R1557:Crocc	UTSW	4	140,752,776 (GRCm39)	missense	probably damaging	0.96
R1561:Crocc	UTSW	4	140,757,579 (GRCm39)	missense	probably damaging	1.00
R1641:Crocc	UTSW	4	140,744,388 (GRCm39)	missense	probably benign	0.00
R1709:Crocc	UTSW	4	140,753,410 (GRCm39)	critical splice donor site	probably null
R1785:Crocc	UTSW	4	140,749,113 (GRCm39)	missense	probably damaging	0.99
R1786:Crocc	UTSW	4	140,749,113 (GRCm39)	missense	probably damaging	0.99
R1793:Crocc	UTSW	4	140,746,620 (GRCm39)	missense	probably damaging	1.00
R1897:Crocc	UTSW	4	140,746,047 (GRCm39)	missense	probably damaging	1.00
R1935:Crocc	UTSW	4	140,761,369 (GRCm39)	missense	possibly damaging	0.78
R2037:Crocc	UTSW	4	140,774,253 (GRCm39)	critical splice donor site	probably null
R2127:Crocc	UTSW	4	140,744,407 (GRCm39)	missense	probably damaging	1.00
R2129:Crocc	UTSW	4	140,744,407 (GRCm39)	missense	probably damaging	1.00
R2130:Crocc	UTSW	4	140,756,413 (GRCm39)	missense	probably benign	0.04
R2136:Crocc	UTSW	4	140,760,265 (GRCm39)	missense	probably damaging	1.00
R2298:Crocc	UTSW	4	140,752,770 (GRCm39)	missense	probably benign	0.30
R2847:Crocc	UTSW	4	140,746,067 (GRCm39)	missense	probably damaging	0.97
R2848:Crocc	UTSW	4	140,746,067 (GRCm39)	missense	probably damaging	0.97
R2913:Crocc	UTSW	4	140,747,661 (GRCm39)	missense	probably damaging	1.00
R3415:Crocc	UTSW	4	140,773,758 (GRCm39)	missense	possibly damaging	0.75
R3416:Crocc	UTSW	4	140,773,758 (GRCm39)	missense	possibly damaging	0.75
R3417:Crocc	UTSW	4	140,773,758 (GRCm39)	missense	possibly damaging	0.75
R4082:Crocc	UTSW	4	140,761,282 (GRCm39)	splice site	probably null
R4454:Crocc	UTSW	4	140,747,716 (GRCm39)	missense	possibly damaging	0.52
R4591:Crocc	UTSW	4	140,745,983 (GRCm39)	missense	probably damaging	1.00
R4597:Crocc	UTSW	4	140,747,088 (GRCm39)	missense	probably damaging	1.00
R4984:Crocc	UTSW	4	140,761,763 (GRCm39)	missense	probably damaging	1.00
R4992:Crocc	UTSW	4	140,773,977 (GRCm39)	missense	probably damaging	0.98
R5109:Crocc	UTSW	4	140,755,722 (GRCm39)	missense	probably damaging	1.00
R5143:Crocc	UTSW	4	140,768,350 (GRCm39)	missense	probably benign	0.01
R5381:Crocc	UTSW	4	140,756,622 (GRCm39)	missense	possibly damaging	0.95
R5684:Crocc	UTSW	4	140,778,455 (GRCm39)	missense	probably damaging	0.99
R5757:Crocc	UTSW	4	140,770,875 (GRCm39)	missense	probably damaging	1.00
R5795:Crocc	UTSW	4	140,769,118 (GRCm39)	frame shift	probably null
R5796:Crocc	UTSW	4	140,769,118 (GRCm39)	frame shift	probably null
R5798:Crocc	UTSW	4	140,769,118 (GRCm39)	frame shift	probably null
R5815:Crocc	UTSW	4	140,762,507 (GRCm39)	missense	probably damaging	0.99
R5955:Crocc	UTSW	4	140,745,229 (GRCm39)	missense	possibly damaging	0.75
R6063:Crocc	UTSW	4	140,773,851 (GRCm39)	missense	probably damaging	1.00
R6063:Crocc	UTSW	4	140,769,032 (GRCm39)	missense	probably benign	0.08
R7086:Crocc	UTSW	4	140,774,368 (GRCm39)	missense	possibly damaging	0.47
R7282:Crocc	UTSW	4	140,749,652 (GRCm39)	missense	probably damaging	1.00
R7293:Crocc	UTSW	4	140,770,867 (GRCm39)	missense	probably benign	0.17
R7404:Crocc	UTSW	4	140,753,497 (GRCm39)	missense	possibly damaging	0.46
R7571:Crocc	UTSW	4	140,773,360 (GRCm39)	critical splice acceptor site	probably null
R7646:Crocc	UTSW	4	140,748,966 (GRCm39)	missense	probably null	0.94
R7782:Crocc	UTSW	4	140,752,597 (GRCm39)	missense	probably benign	0.05
R8053:Crocc	UTSW	4	140,770,230 (GRCm39)	critical splice donor site	probably null
R8762:Crocc	UTSW	4	140,761,369 (GRCm39)	missense	possibly damaging	0.78
R9021:Crocc	UTSW	4	140,749,674 (GRCm39)	missense	probably benign	0.00
R9188:Crocc	UTSW	4	140,747,151 (GRCm39)	missense	probably benign	0.04
R9272:Crocc	UTSW	4	140,747,132 (GRCm39)	missense	probably benign	0.00
R9411:Crocc	UTSW	4	140,749,577 (GRCm39)	critical splice donor site	probably null
R9647:Crocc	UTSW	4	140,774,335 (GRCm39)	missense	probably benign	0.00
R9667:Crocc	UTSW	4	140,748,988 (GRCm39)	missense	probably damaging	1.00
R9706:Crocc	UTSW	4	140,746,046 (GRCm39)	missense	possibly damaging	0.76
R9780:Crocc	UTSW	4	140,756,556 (GRCm39)	missense	probably benign	0.01
X0065:Crocc	UTSW	4	140,769,103 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

Posted On

2017-06-26