Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Clip1'

1629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clip1

Ensembl Gene

ENSMUSG00000049550

Gene Name

CAP-GLY domain containing linker protein 1

Synonyms

Rsn, CLIP-170, 4631429H07Rik, restin, Clip 170, 1110007I12Rik, Clip50, cytoplasmic linker protein 50

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

123715857-123822527 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123741717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1053 (V1053G)

Ref Sequence

ENSEMBL: ENSMUSP00000068241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031382] [ENSMUST00000063905] [ENSMUST00000111561] [ENSMUST00000111564] [ENSMUST00000111566]

AlphaFold

Q922J3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031382
AA Change: V1179G

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031382
Gene: ENSMUSG00000049550
AA Change: V1179G

Domain	Start	End	E-Value	Type
internal_repeat_2	11	53	2.28e-5	PROSPERO
CAP_GLY	60	125	1.05e-31	SMART
internal_repeat_2	140	177	2.28e-5	PROSPERO
CAP_GLY	213	278	4.69e-34	SMART
low complexity region	286	304	N/A	INTRINSIC
low complexity region	305	331	N/A	INTRINSIC
coiled coil region	349	451	N/A	INTRINSIC
coiled coil region	474	535	N/A	INTRINSIC
coiled coil region	581	620	N/A	INTRINSIC
coiled coil region	652	1352	N/A	INTRINSIC
low complexity region	1362	1373	N/A	INTRINSIC
Pfam:CLIP1_ZNF	1375	1392	5.8e-9	PFAM
ZnF_C2HC	1417	1433	1.45e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063905
AA Change: V1053G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068241
Gene: ENSMUSG00000049550
AA Change: V1053G

Domain	Start	End	E-Value	Type
internal_repeat_2	11	53	3.3e-5	PROSPERO
CAP_GLY	60	125	1.05e-31	SMART
internal_repeat_2	140	177	3.3e-5	PROSPERO
CAP_GLY	213	278	4.69e-34	SMART
low complexity region	286	304	N/A	INTRINSIC
low complexity region	305	331	N/A	INTRINSIC
coiled coil region	349	524	N/A	INTRINSIC
coiled coil region	570	609	N/A	INTRINSIC
coiled coil region	641	1075	N/A	INTRINSIC
coiled coil region	1115	1235	N/A	INTRINSIC
low complexity region	1245	1256	N/A	INTRINSIC
ZnF_C2HC	1300	1316	1.45e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111561
AA Change: V1168G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107186
Gene: ENSMUSG00000049550
AA Change: V1168G

Domain	Start	End	E-Value	Type
internal_repeat_2	11	53	1.93e-5	PROSPERO
CAP_GLY	60	125	1.05e-31	SMART
internal_repeat_2	140	177	1.93e-5	PROSPERO
CAP_GLY	213	278	4.69e-34	SMART
low complexity region	286	304	N/A	INTRINSIC
low complexity region	305	331	N/A	INTRINSIC
coiled coil region	349	524	N/A	INTRINSIC
coiled coil region	570	609	N/A	INTRINSIC
coiled coil region	641	1341	N/A	INTRINSIC
low complexity region	1351	1362	N/A	INTRINSIC
ZnF_C2HC	1406	1422	1.45e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111564
AA Change: V1057G

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107190
Gene: ENSMUSG00000049550
AA Change: V1057G

Domain	Start	End	E-Value	Type
internal_repeat_2	11	53	2.5e-5	PROSPERO
CAP_GLY	60	125	1.05e-31	SMART
internal_repeat_2	140	177	2.5e-5	PROSPERO
CAP_GLY	213	278	4.69e-34	SMART
low complexity region	286	304	N/A	INTRINSIC
low complexity region	305	331	N/A	INTRINSIC
coiled coil region	349	489	N/A	INTRINSIC
coiled coil region	535	574	N/A	INTRINSIC
coiled coil region	606	1230	N/A	INTRINSIC
low complexity region	1240	1251	N/A	INTRINSIC
ZnF_C2HC	1295	1311	1.45e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111566
AA Change: V1133G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107192
Gene: ENSMUSG00000049550
AA Change: V1133G

Domain	Start	End	E-Value	Type
internal_repeat_2	11	53	2e-5	PROSPERO
CAP_GLY	60	125	1.05e-31	SMART
internal_repeat_2	140	177	2e-5	PROSPERO
CAP_GLY	213	278	4.69e-34	SMART
low complexity region	286	304	N/A	INTRINSIC
low complexity region	305	331	N/A	INTRINSIC
coiled coil region	349	489	N/A	INTRINSIC
coiled coil region	535	574	N/A	INTRINSIC
coiled coil region	606	1306	N/A	INTRINSIC
low complexity region	1316	1327	N/A	INTRINSIC
ZnF_C2HC	1371	1387	1.45e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133545

Predicted Effect

unknown
Transcript: ENSMUST00000137363
AA Change: V805G

SMART Domains

Protein: ENSMUSP00000121425
Gene: ENSMUSG00000049550
AA Change: V805G

Domain	Start	End	E-Value	Type
CAP_GLY	2	31	2.59e0	SMART
low complexity region	39	57	N/A	INTRINSIC
low complexity region	58	84	N/A	INTRINSIC
coiled coil region	101	276	N/A	INTRINSIC
coiled coil region	322	361	N/A	INTRINSIC
coiled coil region	393	980	N/A	INTRINSIC
low complexity region	991	1002	N/A	INTRINSIC
Pfam:CLIP1_ZNF	1004	1021	4.2e-9	PFAM
ZnF_C2HC	1046	1062	1.45e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000154672
AA Change: V980G

SMART Domains

Protein: ENSMUSP00000122064
Gene: ENSMUSG00000049550
AA Change: V980G

Domain	Start	End	E-Value	Type
low complexity region	43	59	N/A	INTRINSIC
low complexity region	165	176	N/A	INTRINSIC
internal_repeat_1	352	375	1.56e-8	PROSPERO
internal_repeat_3	358	377	5.32e-6	PROSPERO
internal_repeat_1	450	473	1.56e-8	PROSPERO
internal_repeat_3	544	563	5.32e-6	PROSPERO
internal_repeat_2	553	575	2.88e-7	PROSPERO
low complexity region	735	744	N/A	INTRINSIC
internal_repeat_2	781	803	2.88e-7	PROSPERO
low complexity region	819	830	N/A	INTRINSIC
low complexity region	962	977	N/A	INTRINSIC
low complexity region	1081	1099	N/A	INTRINSIC
low complexity region	1110	1121	N/A	INTRINSIC
low complexity region	1164	1175	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154432

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted allele display reduced male fertility and teratozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Axin1	A	T	17: 26,361,779 (GRCm39)	D41V	possibly damaging	Het
BC034090	C	A	1: 155,101,197 (GRCm39)	E718*	probably null	Het
Cdc123	G	T	2: 5,809,746 (GRCm39)	Q222K	probably benign	Het
Dock7	T	A	4: 98,952,222 (GRCm39)	E416V	probably damaging	Het
Dydc1	T	C	14: 40,809,370 (GRCm39)	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839 (GRCm39)	V732A	probably benign	Het
Dzip1l	T	A	9: 99,519,830 (GRCm39)	L119Q	probably damaging	Het
Erp27	T	A	6: 136,886,500 (GRCm39)	S178C	probably damaging	Het
Fbn1	A	G	2: 125,239,793 (GRCm39)	V298A	probably benign	Het
Fbxo34	A	G	14: 47,766,931 (GRCm39)	H97R	probably damaging	Het
Gm20521	C	T	14: 55,122,079 (GRCm39)	Q81*	probably null	Het
Gspt1	T	C	16: 11,040,476 (GRCm39)	M610V	probably damaging	Het
Herc1	A	G	9: 66,344,964 (GRCm39)	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,862,792 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lrrk2	A	G	15: 91,632,002 (GRCm39)	K1309E	possibly damaging	Het
Lurap1	T	C	4: 115,994,887 (GRCm39)	T115A	probably damaging	Het
Myo18b	G	T	5: 113,021,997 (GRCm39)	T465K	probably benign	Het
Nwd1	A	T	8: 73,397,705 (GRCm39)	D648V	probably damaging	Het
Or13c25	T	G	4: 52,911,618 (GRCm39)	M59L	possibly damaging	Het
Or2at4	G	A	7: 99,384,524 (GRCm39)	R58H	probably benign	Het
Otof	T	C	5: 30,533,248 (GRCm39)	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,235,223 (GRCm39)	C285Y	probably damaging	Het
Parp3	A	G	9: 106,348,586 (GRCm39)	I478T	probably benign	Het
Pdzd2	C	T	15: 12,458,069 (GRCm39)	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,841,851 (GRCm39)	L634P	probably damaging	Het
Prkg1	C	A	19: 31,279,740 (GRCm39)	V165L	probably benign	Het
Riok3	A	G	18: 12,281,948 (GRCm39)	I306V	possibly damaging	Het
Ror2	T	C	13: 53,267,118 (GRCm39)	D439G	probably benign	Het
Scn2a	T	A	2: 65,573,434 (GRCm39)	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,469,924 (GRCm39)	D146N	probably benign	Het
Skic3	T	C	13: 76,291,397 (GRCm39)		probably null	Het
Slc16a9	A	G	10: 70,118,529 (GRCm39)	R283G	probably benign	Het
Sptb	T	C	12: 76,668,105 (GRCm39)	D664G	probably benign	Het
Tmprss3	T	A	17: 31,413,982 (GRCm39)	D54V	probably damaging	Het
Tubd1	G	T	11: 86,456,555 (GRCm39)	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,078,209 (GRCm39)	M83K	probably benign	Het
Vps13c	A	G	9: 67,853,281 (GRCm39)	E2458G	probably benign	Het
Vps35l	G	A	7: 118,396,270 (GRCm39)		probably null	Het
Zhx2	A	T	15: 57,686,266 (GRCm39)	E545V	probably damaging	Het

Other mutations in Clip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Clip1	APN	5	123,768,867 (GRCm39)	missense	probably damaging	0.99
IGL01524:Clip1	APN	5	123,717,442 (GRCm39)	missense	probably damaging	1.00
IGL01632:Clip1	APN	5	123,755,559 (GRCm39)	missense	probably damaging	1.00
IGL01798:Clip1	APN	5	123,721,612 (GRCm39)	missense	probably damaging	1.00
IGL01874:Clip1	APN	5	123,741,729 (GRCm39)	missense	possibly damaging	0.50
IGL01908:Clip1	APN	5	123,761,270 (GRCm39)	splice site	probably benign
IGL02120:Clip1	APN	5	123,785,946 (GRCm39)	missense	probably damaging	1.00
IGL02309:Clip1	APN	5	123,755,763 (GRCm39)	missense	probably damaging	0.99
IGL02555:Clip1	APN	5	123,759,857 (GRCm39)	critical splice donor site	probably null
IGL03027:Clip1	APN	5	123,759,919 (GRCm39)	missense	probably benign	0.43
IGL03336:Clip1	APN	5	123,791,633 (GRCm39)	nonsense	probably null
IGL03365:Clip1	APN	5	123,721,649 (GRCm39)	missense	probably damaging	1.00
IGL02802:Clip1	UTSW	5	123,769,186 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Clip1	UTSW	5	123,768,738 (GRCm39)	missense	probably benign	0.08
R0254:Clip1	UTSW	5	123,755,395 (GRCm39)	splice site	probably benign
R0401:Clip1	UTSW	5	123,791,852 (GRCm39)	missense	probably damaging	1.00
R0530:Clip1	UTSW	5	123,778,594 (GRCm39)	missense	probably damaging	1.00
R0744:Clip1	UTSW	5	123,768,784 (GRCm39)	missense	probably benign	0.05
R0833:Clip1	UTSW	5	123,768,784 (GRCm39)	missense	probably benign	0.05
R1116:Clip1	UTSW	5	123,717,554 (GRCm39)	missense	probably damaging	0.99
R1182:Clip1	UTSW	5	123,785,928 (GRCm39)	missense	probably damaging	1.00
R1656:Clip1	UTSW	5	123,768,466 (GRCm39)	missense	possibly damaging	0.61
R1700:Clip1	UTSW	5	123,768,433 (GRCm39)	missense	probably benign
R1889:Clip1	UTSW	5	123,791,559 (GRCm39)	missense	probably damaging	0.99
R1975:Clip1	UTSW	5	123,761,281 (GRCm39)	missense	possibly damaging	0.79
R2406:Clip1	UTSW	5	123,741,723 (GRCm39)	missense	probably damaging	1.00
R3545:Clip1	UTSW	5	123,769,141 (GRCm39)	missense	probably damaging	1.00
R3547:Clip1	UTSW	5	123,769,141 (GRCm39)	missense	probably damaging	1.00
R3548:Clip1	UTSW	5	123,769,141 (GRCm39)	missense	probably damaging	1.00
R3911:Clip1	UTSW	5	123,728,897 (GRCm39)	missense	probably damaging	1.00
R3944:Clip1	UTSW	5	123,755,892 (GRCm39)	unclassified	probably benign
R4660:Clip1	UTSW	5	123,717,437 (GRCm39)	missense	probably damaging	0.98
R4784:Clip1	UTSW	5	123,717,356 (GRCm39)	missense	probably damaging	1.00
R4785:Clip1	UTSW	5	123,717,356 (GRCm39)	missense	probably damaging	1.00
R4824:Clip1	UTSW	5	123,769,086 (GRCm39)	missense	probably damaging	1.00
R4831:Clip1	UTSW	5	123,721,664 (GRCm39)	missense	probably damaging	1.00
R4951:Clip1	UTSW	5	123,768,408 (GRCm39)	missense	probably benign	0.02
R4960:Clip1	UTSW	5	123,792,066 (GRCm39)	nonsense	probably null
R5014:Clip1	UTSW	5	123,755,793 (GRCm39)	missense	probably damaging	0.99
R5116:Clip1	UTSW	5	123,768,770 (GRCm39)	missense	probably benign	0.05
R5212:Clip1	UTSW	5	123,768,744 (GRCm39)	missense	probably benign	0.09
R5238:Clip1	UTSW	5	123,785,946 (GRCm39)	missense	probably damaging	1.00
R5318:Clip1	UTSW	5	123,751,147 (GRCm39)	unclassified	probably benign
R5372:Clip1	UTSW	5	123,768,303 (GRCm39)	missense	probably benign	0.02
R5701:Clip1	UTSW	5	123,751,366 (GRCm39)	unclassified	probably benign
R5734:Clip1	UTSW	5	123,753,217 (GRCm39)	unclassified	probably benign
R5757:Clip1	UTSW	5	123,765,460 (GRCm39)	missense	probably benign	0.21
R6024:Clip1	UTSW	5	123,753,152 (GRCm39)	missense	possibly damaging	0.66
R6160:Clip1	UTSW	5	123,751,604 (GRCm39)	missense	possibly damaging	0.66
R6177:Clip1	UTSW	5	123,751,897 (GRCm39)	unclassified	probably benign
R6183:Clip1	UTSW	5	123,780,667 (GRCm39)	missense	probably damaging	1.00
R6377:Clip1	UTSW	5	123,741,717 (GRCm39)	missense	possibly damaging	0.50
R6436:Clip1	UTSW	5	123,779,848 (GRCm39)	missense	probably damaging	1.00
R6471:Clip1	UTSW	5	123,778,612 (GRCm39)	missense	probably damaging	0.99
R6766:Clip1	UTSW	5	123,752,827 (GRCm39)	unclassified	probably benign
R7015:Clip1	UTSW	5	123,751,675 (GRCm39)	unclassified	probably benign
R7094:Clip1	UTSW	5	123,761,333 (GRCm39)	missense	probably benign	0.02
R7143:Clip1	UTSW	5	123,791,673 (GRCm39)	missense	probably benign
R7222:Clip1	UTSW	5	123,749,904 (GRCm39)	missense	probably damaging	0.99
R7233:Clip1	UTSW	5	123,749,922 (GRCm39)	missense	probably damaging	1.00
R7238:Clip1	UTSW	5	123,751,328 (GRCm39)	missense
R7249:Clip1	UTSW	5	123,741,663 (GRCm39)	missense	probably damaging	1.00
R7283:Clip1	UTSW	5	123,751,857 (GRCm39)	missense
R7295:Clip1	UTSW	5	123,765,419 (GRCm39)	missense	probably benign	0.19
R7447:Clip1	UTSW	5	123,791,696 (GRCm39)	missense	probably benign	0.03
R7458:Clip1	UTSW	5	123,778,609 (GRCm39)	missense	probably damaging	1.00
R7483:Clip1	UTSW	5	123,755,447 (GRCm39)	missense	probably benign	0.00
R7516:Clip1	UTSW	5	123,721,448 (GRCm39)	missense	probably benign	0.00
R7619:Clip1	UTSW	5	123,752,342 (GRCm39)	missense
R7831:Clip1	UTSW	5	123,751,342 (GRCm39)	missense
R7897:Clip1	UTSW	5	123,760,861 (GRCm39)	missense	probably benign
R8155:Clip1	UTSW	5	123,751,699 (GRCm39)	missense
R8157:Clip1	UTSW	5	123,768,782 (GRCm39)	missense	probably benign	0.17
R8232:Clip1	UTSW	5	123,785,981 (GRCm39)	missense	probably benign	0.05
R8396:Clip1	UTSW	5	123,780,627 (GRCm39)	missense	probably damaging	1.00
R8446:Clip1	UTSW	5	123,794,008 (GRCm39)	missense	probably damaging	1.00
R8486:Clip1	UTSW	5	123,752,770 (GRCm39)	unclassified	probably benign
R8511:Clip1	UTSW	5	123,791,969 (GRCm39)	missense	possibly damaging	0.50
R8731:Clip1	UTSW	5	123,752,756 (GRCm39)	missense
R8889:Clip1	UTSW	5	123,717,565 (GRCm39)	missense	probably benign	0.00
R8892:Clip1	UTSW	5	123,717,565 (GRCm39)	missense	probably benign	0.00
R9058:Clip1	UTSW	5	123,752,645 (GRCm39)	missense
R9106:Clip1	UTSW	5	123,753,223 (GRCm39)	missense	probably damaging	0.97
R9212:Clip1	UTSW	5	123,721,399 (GRCm39)	missense	probably damaging	1.00
R9217:Clip1	UTSW	5	123,717,441 (GRCm39)	missense	probably damaging	1.00
R9223:Clip1	UTSW	5	123,784,337 (GRCm39)	missense	probably damaging	1.00
R9325:Clip1	UTSW	5	123,751,186 (GRCm39)	missense
R9752:Clip1	UTSW	5	123,760,009 (GRCm39)	missense	probably damaging	1.00
Z1177:Clip1	UTSW	5	123,755,413 (GRCm39)	missense	probably damaging	0.99

Posted On

2011-07-12