Incidental Mutation 'R1656:Clip1'
ID 189091
Institutional Source Beutler Lab
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
MMRRC Submission 039692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1656 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123715857-123822527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 123768466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 757 (V757G)
Ref Sequence ENSEMBL: ENSMUSP00000031382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031382] [ENSMUST00000063905] [ENSMUST00000111561] [ENSMUST00000111564] [ENSMUST00000111566] [ENSMUST00000149410]
AlphaFold Q922J3
Predicted Effect possibly damaging
Transcript: ENSMUST00000031382
AA Change: V757G

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031382
Gene: ENSMUSG00000049550
AA Change: V757G

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000063905
SMART Domains Protein: ENSMUSP00000068241
Gene: ENSMUSG00000049550

DomainStartEndE-ValueType
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: V746G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107186
Gene: ENSMUSG00000049550
AA Change: V746G

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000107190
Gene: ENSMUSG00000049550

DomainStartEndE-ValueType
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: V711G

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107192
Gene: ENSMUSG00000049550
AA Change: V711G

DomainStartEndE-ValueType
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: ENSMUST00000122603
Predicted Effect probably benign
Transcript: ENSMUST00000137363
SMART Domains Protein: ENSMUSP00000121425
Gene: ENSMUSG00000049550

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000199018
Predicted Effect probably benign
Transcript: ENSMUST00000149410
SMART Domains Protein: ENSMUSP00000115965
Gene: ENSMUSG00000049550

DomainStartEndE-ValueType
low complexity region 26 32 N/A INTRINSIC
CAP_GLY 60 125 1.05e-31 SMART
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 334 458 N/A INTRINSIC
coiled coil region 504 543 N/A INTRINSIC
coiled coil region 575 827 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144121
SMART Domains Protein: ENSMUSP00000119641
Gene: ENSMUSG00000049550

DomainStartEndE-ValueType
CAP_GLY 37 102 1.05e-31 SMART
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 96% (79/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A T 14: 32,099,901 (GRCm39) I42N possibly damaging Het
Adarb2 T A 13: 8,253,287 (GRCm39) S11T unknown Het
Adgrg1 C T 8: 95,738,438 (GRCm39) Q644* probably null Het
Akr1c18 T G 13: 4,195,252 (GRCm39) I69L probably benign Het
Anxa9 C T 3: 95,207,884 (GRCm39) V219I probably benign Het
Aqp9 T C 9: 71,045,385 (GRCm39) T101A probably benign Het
Arhgef1 C T 7: 24,613,057 (GRCm39) R251W probably damaging Het
Arl13b T A 16: 62,627,007 (GRCm39) E231D possibly damaging Het
Atosa C T 9: 74,916,241 (GRCm39) A280V probably benign Het
Bcl2l11 C T 2: 128,000,176 (GRCm39) A173V probably benign Het
Ccni A T 5: 93,335,933 (GRCm39) probably null Het
Cdh18 A G 15: 23,474,485 (GRCm39) E785G probably benign Het
Cdk4 A G 10: 126,900,849 (GRCm39) Y167C probably benign Het
Ctsc T C 7: 87,930,616 (GRCm39) V65A possibly damaging Het
Cuedc2 G A 19: 46,320,427 (GRCm39) S48L probably damaging Het
Cyp39a1 T A 17: 43,978,510 (GRCm39) M4K possibly damaging Het
Dgcr8 T C 16: 18,074,577 (GRCm39) S733G probably benign Het
Dnhd1 T C 7: 105,363,488 (GRCm39) S4017P probably damaging Het
Ehbp1 A G 11: 22,096,694 (GRCm39) I255T probably benign Het
Fam83e T C 7: 45,371,687 (GRCm39) V28A probably benign Het
Fanci A G 7: 79,054,936 (GRCm39) probably benign Het
Fat1 C T 8: 45,478,567 (GRCm39) Q2538* probably null Het
Fshr A G 17: 89,508,009 (GRCm39) F11S unknown Het
Gab1 G T 8: 81,515,388 (GRCm39) P310Q probably damaging Het
Galnt18 A G 7: 111,215,699 (GRCm39) probably benign Het
Gm28042 C A 2: 119,869,370 (GRCm39) P355Q probably damaging Het
H2-DMa A G 17: 34,357,116 (GRCm39) T205A possibly damaging Het
Hnf4g A T 3: 3,718,011 (GRCm39) D420V probably benign Het
Ift70b T C 2: 75,767,760 (GRCm39) K331R probably benign Het
Il1b A G 2: 129,207,989 (GRCm39) V164A probably damaging Het
Irf4 C A 13: 30,941,485 (GRCm39) H279Q probably benign Het
Loxhd1 A G 18: 77,409,364 (GRCm39) T203A possibly damaging Het
Lsamp C T 16: 41,775,682 (GRCm39) P178S probably damaging Het
Mcm6 T C 1: 128,277,155 (GRCm39) S223G possibly damaging Het
Misp G T 10: 79,661,777 (GRCm39) V65L possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Myef2 G T 2: 124,939,860 (GRCm39) probably null Het
Myo1e T A 9: 70,303,216 (GRCm39) I1079N probably damaging Het
Nisch G T 14: 30,899,228 (GRCm39) probably benign Het
Obox7 T C 7: 14,399,346 (GRCm39) S191P probably benign Het
Or11h7 T C 14: 50,891,465 (GRCm39) V257A probably benign Het
Or13p10 A G 4: 118,523,385 (GRCm39) I224V probably damaging Het
Or14c40 C T 7: 86,313,331 (GRCm39) L154F probably benign Het
Or1j11 G A 2: 36,311,658 (GRCm39) V83M probably benign Het
Or5w14 A T 2: 87,541,422 (GRCm39) V276D possibly damaging Het
Or7d9 A G 9: 20,197,873 (GRCm39) R301G probably damaging Het
Phf1 T C 17: 27,156,333 (GRCm39) S492P possibly damaging Het
Phyh A T 2: 4,943,164 (GRCm39) N337I probably damaging Het
Poteg A T 8: 27,985,060 (GRCm39) probably benign Het
Prag1 G T 8: 36,571,500 (GRCm39) K694N probably damaging Het
Proser2 C T 2: 6,107,870 (GRCm39) E49K probably damaging Het
Pskh1 T C 8: 106,656,389 (GRCm39) V355A possibly damaging Het
Psmc2 T C 5: 22,004,549 (GRCm39) V182A possibly damaging Het
Rbfox1 A G 16: 7,124,333 (GRCm39) probably benign Het
Slc26a7 A T 4: 14,621,221 (GRCm39) I55K possibly damaging Het
Slc5a8 G A 10: 88,761,648 (GRCm39) probably null Het
Slitrk3 T C 3: 72,957,672 (GRCm39) R367G probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spata31 A G 13: 65,068,953 (GRCm39) E367G probably benign Het
Srrm3 A T 5: 135,863,892 (GRCm39) probably null Het
Ssmem1 T C 6: 30,517,507 (GRCm39) S6P probably damaging Het
Swap70 A G 7: 109,821,034 (GRCm39) D6G probably benign Het
Syt1 T C 10: 108,419,776 (GRCm39) E295G probably damaging Het
Tap2 A T 17: 34,424,927 (GRCm39) I192F possibly damaging Het
Tgoln1 C T 6: 72,591,068 (GRCm39) R348H probably damaging Het
Tln2 C T 9: 67,134,389 (GRCm39) V1373I possibly damaging Het
Tmc2 A G 2: 130,089,854 (GRCm39) D613G possibly damaging Het
Tmem62 T A 2: 120,837,483 (GRCm39) Y597N probably benign Het
Trhr2 T A 8: 123,084,185 (GRCm39) T272S probably damaging Het
Vmn2r92 T C 17: 18,372,198 (GRCm39) S3P probably benign Het
Wdfy3 A T 5: 102,089,313 (GRCm39) I627N probably damaging Het
Zfhx4 T C 3: 5,478,076 (GRCm39) S3564P probably damaging Het
Zfp467 T G 6: 48,416,013 (GRCm39) E213A possibly damaging Het
Zfp746 T G 6: 48,041,411 (GRCm39) K437N probably damaging Het
Zfp853 A G 5: 143,274,840 (GRCm39) probably benign Het
Zranb1 T A 7: 132,551,496 (GRCm39) V49D probably benign Het
Other mutations in Clip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Clip1 APN 5 123,741,717 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- TTGCTCTGCTCTCCTCGGAAGAAG -3'
(R):5'- ACCATGCAGGCCAAGCTGATGAAG -3'

Sequencing Primer
(F):5'- AGCTCACGTTAGATCAGGC -3'
(R):5'- GCCAAGCTGATGAAGATCATTAAAG -3'
Posted On 2014-05-09