Incidental Mutation 'R6377:Clip1'
ID 515039
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 044527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6377 (G1)
Quality Score 192.009
Status Validated
Chromosome 5
Chromosomal Location 123715857-123822527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123741717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1053 (V1053A)
Ref Sequence ENSEMBL: ENSMUSP00000068241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031382] [ENSMUST00000063905] [ENSMUST00000111561] [ENSMUST00000111564] [ENSMUST00000111566]
AlphaFold Q922J3
Predicted Effect probably benign
Transcript: ENSMUST00000031382
AA Change: V1179A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031382
Gene: ENSMUSG00000049550
AA Change: V1179A

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 possibly damaging
Transcript: ENSMUST00000063905
AA Change: V1053A

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000068241
Gene: ENSMUSG00000049550
AA Change: V1053A

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 probably benign
Transcript: ENSMUST00000111561
AA Change: V1168A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107186
Gene: ENSMUSG00000049550
AA Change: V1168A

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
AA Change: V1057A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107190
Gene: ENSMUSG00000049550
AA Change: V1057A

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: V1133A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107192
Gene: ENSMUSG00000049550
AA Change: V1133A

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: ENSMUST00000125340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133545
Predicted Effect unknown
Transcript: ENSMUST00000137363
AA Change: V805A
SMART Domains Protein: ENSMUSP00000121425
Gene: ENSMUSG00000049550
AA Change: V805A

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: ENSMUST00000137602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154432
Predicted Effect unknown
Transcript: ENSMUST00000154672
AA Change: V980A
SMART Domains Protein: ENSMUSP00000122064
Gene: ENSMUSG00000049550
AA Change: V980A

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0580 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 94% (59/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankib1 A G 5: 3,743,855 (GRCm39) S812P possibly damaging Het
Atp2c2 A G 8: 120,453,093 (GRCm39) E159G probably benign Het
Atrn A G 2: 130,821,889 (GRCm39) I861V probably damaging Het
Cngb1 C A 8: 95,975,608 (GRCm39) G629C probably damaging Het
Cntn5 A T 9: 9,743,657 (GRCm39) F540Y probably damaging Het
Cpb1 A C 3: 20,329,748 (GRCm39) probably null Het
Cyp4a14 A G 4: 115,353,280 (GRCm39) Y11H probably benign Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dcstamp A T 15: 39,618,317 (GRCm39) Y242F probably benign Het
Drd3 G T 16: 43,641,670 (GRCm39) G329* probably null Het
Duxf1 T C 10: 58,059,494 (GRCm39) probably benign Het
Dysf T A 6: 83,985,945 (GRCm39) S17T probably benign Het
Eno1 A T 4: 150,333,009 (GRCm39) K366N possibly damaging Het
Ffar2 C T 7: 30,518,971 (GRCm39) V190I probably benign Het
Fkbp15 T C 4: 62,242,429 (GRCm39) T508A probably damaging Het
Fndc1 A G 17: 7,988,567 (GRCm39) V1165A unknown Het
Foxj3 A T 4: 119,430,945 (GRCm39) probably null Het
Gabarap T C 11: 69,882,630 (GRCm39) probably null Het
Gm19410 T A 8: 36,270,736 (GRCm39) L1221* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Igf1r A T 7: 67,850,998 (GRCm39) Y931F probably benign Het
Il23r A T 6: 67,400,636 (GRCm39) S565T probably damaging Het
Ipo8 A T 6: 148,717,995 (GRCm39) Y209* probably null Het
Jph2 C T 2: 163,181,632 (GRCm39) G511R probably benign Het
Khdrbs1 C A 4: 129,635,890 (GRCm39) D22Y probably damaging Het
Kif5b A T 18: 6,212,562 (GRCm39) L754Q probably damaging Het
Ksr1 C T 11: 78,927,320 (GRCm39) probably null Het
L3mbtl4 G T 17: 69,084,918 (GRCm39) V610F probably benign Het
Lars2 A G 9: 123,283,825 (GRCm39) T698A probably benign Het
Lonp1 A G 17: 56,928,961 (GRCm39) V267A possibly damaging Het
Loxhd1 T A 18: 77,468,128 (GRCm39) D925E probably damaging Het
Lsg1 A G 16: 30,393,386 (GRCm39) L187P possibly damaging Het
Mki67 A T 7: 135,298,050 (GRCm39) V2328E possibly damaging Het
Mlh3 A G 12: 85,315,271 (GRCm39) I305T probably damaging Het
Mtbp A G 15: 55,421,016 (GRCm39) M1V probably null Het
Myadml2 C A 11: 120,538,538 (GRCm39) C99F probably benign Het
Ncbp1 A G 4: 46,150,703 (GRCm39) Y185C probably damaging Het
Ndufaf7 A T 17: 79,250,739 (GRCm39) Q222L probably null Het
Nlrp4b A T 7: 10,449,339 (GRCm39) Y147F probably benign Het
Or4c11c C T 2: 88,661,613 (GRCm39) R51* probably null Het
Pet100 T C 8: 3,672,370 (GRCm39) V15A probably benign Het
Pot1a A G 6: 25,778,869 (GRCm39) V75A probably benign Het
Ptprs A T 17: 56,725,935 (GRCm39) M1043K probably damaging Het
Rnf31 A G 14: 55,832,984 (GRCm39) T413A probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rubcnl A T 14: 75,287,635 (GRCm39) probably null Het
Ryr3 A T 2: 112,462,530 (GRCm39) C4839S probably damaging Het
Scai A C 2: 38,992,340 (GRCm39) D379E probably benign Het
Scd2 G T 19: 44,288,198 (GRCm39) G197* probably null Het
Sdr39u1 A C 14: 56,135,166 (GRCm39) I259S probably benign Het
Slco1a5 A T 6: 142,187,906 (GRCm39) probably null Het
Sp1 A T 15: 102,339,318 (GRCm39) T733S probably benign Het
Tecta A G 9: 42,255,051 (GRCm39) S1711P probably damaging Het
Tedc1 G T 12: 113,124,975 (GRCm39) W240L probably damaging Het
Trarg1 T C 11: 76,571,355 (GRCm39) S124P probably damaging Het
Trim50 A G 5: 135,382,454 (GRCm39) K102R probably benign Het
Utrn A G 10: 12,619,827 (GRCm39) Y278H probably damaging Het
Vinac1 T A 2: 128,878,731 (GRCm39) D1065V unknown Het
Vmn2r109 A C 17: 20,784,796 (GRCm39) probably null Het
Zbed5 T C 5: 129,932,210 (GRCm39) S720P possibly damaging Het
Zc3h3 A G 15: 75,711,304 (GRCm39) S386P probably damaging Het
Zscan4-ps1 C T 7: 10,802,418 (GRCm39) probably null 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
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
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'- TATAGCCGTGTGCATCCCTG -3'
(R):5'- TAGATCTTATCAGGCACGTGAC -3'

Sequencing Primer
(F):5'- TGCATCCCTGGAAGCAAAG -3'
(R):5'- AGGCACGTGACCCAGATCTATTTTC -3'
Posted On 2018-05-04