Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01389:Crocc'

79152

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crocc

Ensembl Gene

ENSMUSG00000040860

Gene Name

ciliary rootlet coiled-coil, rootletin

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01389

Quality Score

Status

Chromosome

Chromosomal Location

140743948-140787861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140749423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1536 (E1536G)

Ref Sequence

ENSEMBL: ENSMUSP00000099549 (fasta)

Gene Model

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

AlphaFold

Q8CJ40

Predicted Effect

probably benign
Transcript: ENSMUST00000040222
AA Change: E1372G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037679
Gene: ENSMUSG00000040860
AA Change: E1372G

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 benign
Transcript: ENSMUST00000097816
AA Change: E1372G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095425
Gene: ENSMUSG00000040860
AA Change: E1372G

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 damaging
Transcript: ENSMUST00000102491
AA Change: E1536G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099549
Gene: ENSMUSG00000040860
AA Change: E1536G

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

noncoding transcript
Transcript: ENSMUST00000122846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137721

Predicted Effect

probably benign
Transcript: ENSMUST00000168157
AA Change: E1372G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126543
Gene: ENSMUSG00000040860
AA Change: E1372G

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

noncoding transcript
Transcript: ENSMUST00000151455

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc163	T	C	4: 116,568,503 (GRCm39)		probably benign	Het
Ceacam5	T	G	7: 17,481,300 (GRCm39)	V349G	probably damaging	Het
Ces2e	T	A	8: 105,656,197 (GRCm39)	D169E	probably benign	Het
Cfh	G	T	1: 140,082,377 (GRCm39)	T150K	probably benign	Het
Chrd	A	G	16: 20,559,975 (GRCm39)	M859V	possibly damaging	Het
Clca3a2	C	T	3: 144,783,629 (GRCm39)		probably null	Het
Dhx57	A	G	17: 80,588,652 (GRCm39)	V67A	probably benign	Het
Dock11	T	C	X: 35,256,701 (GRCm39)	V576A	probably benign	Het
Ighv1-85	A	G	12: 115,963,671 (GRCm39)	S110P	probably damaging	Het
Lyg1	G	A	1: 37,989,011 (GRCm39)	P70S	probably damaging	Het
Numbl	T	G	7: 26,980,472 (GRCm39)	F485V	possibly damaging	Het
Or4x6	A	T	2: 89,949,412 (GRCm39)	C177S	probably damaging	Het
Pclo	A	G	5: 14,764,535 (GRCm39)	E1051G	probably damaging	Het
Pdzd2	T	C	15: 12,374,712 (GRCm39)	S1808G	possibly damaging	Het
Rad51b	T	A	12: 79,349,327 (GRCm39)	H54Q	probably benign	Het
Rbbp7	T	C	X: 161,552,939 (GRCm39)		probably benign	Het
Rhbdl2	G	T	4: 123,723,450 (GRCm39)	V285L	probably benign	Het
Slc22a16	T	A	10: 40,461,131 (GRCm39)	M311K	probably damaging	Het
Slc22a21	A	G	11: 53,870,407 (GRCm39)	S93P	probably damaging	Het
Stt3b	T	C	9: 115,082,968 (GRCm39)	E488G	probably benign	Het
Tas2r108	A	G	6: 40,470,866 (GRCm39)	H114R	possibly damaging	Het
Tcaim	A	G	9: 122,643,627 (GRCm39)	E109G	possibly damaging	Het
Tsc22d2	A	G	3: 58,323,659 (GRCm39)	T184A	probably damaging	Het
Vmn2r2	G	T	3: 64,024,430 (GRCm39)	T717N	probably damaging	Het
Vps25	C	T	11: 101,144,861 (GRCm39)	Q20*	probably null	Het
Xiap	T	C	X: 41,183,429 (GRCm39)	F52L	probably damaging	Het

Other mutations in Crocc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6031:Crocc	UTSW	4	140,761,668 (GRCm39)	critical splice donor site	probably null
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

Posted On

2013-11-05