Incidental Mutation 'R5757:Clip1'
ID 445097
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 043360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5757 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123715857-123822527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123765460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 810 (T810I)
Ref Sequence ENSEMBL: ENSMUSP00000107186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031382] [ENSMUST00000063905] [ENSMUST00000111561] [ENSMUST00000111564] [ENSMUST00000111566] [ENSMUST00000149410]
AlphaFold Q922J3
Predicted Effect probably benign
Transcript: ENSMUST00000031382
AA Change: T821I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000031382
Gene: ENSMUSG00000049550
AA Change: T821I

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 probably benign
Transcript: ENSMUST00000111561
AA Change: T810I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107186
Gene: ENSMUSG00000049550
AA Change: T810I

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: T699I

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107190
Gene: ENSMUSG00000049550
AA Change: T699I

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: T775I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107192
Gene: ENSMUSG00000049550
AA Change: T775I

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 probably benign
Transcript: ENSMUST00000149410
AA Change: T668I

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115965
Gene: ENSMUSG00000049550
AA Change: T668I

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,933,794 (GRCm39) A1204T probably benign Het
Adcy5 G T 16: 35,092,451 (GRCm39) R604L probably damaging Het
Ago4 A T 4: 126,419,877 (GRCm39) N33K probably damaging Het
Arid5b T C 10: 67,937,909 (GRCm39) Y406C probably damaging Het
Asgr1 A C 11: 69,945,778 (GRCm39) H18P probably benign Het
Asph A C 4: 9,637,722 (GRCm39) probably null Het
Brd4 G A 17: 32,420,272 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,302,779 (GRCm39) I133N probably damaging Het
Cdon A C 9: 35,364,068 (GRCm39) H62P probably damaging Het
Clec4b1 T A 6: 123,046,713 (GRCm39) Y157* probably null Het
Crocc A T 4: 140,770,875 (GRCm39) L184Q probably damaging Het
Fat2 C T 11: 55,143,172 (GRCm39) G4226R probably damaging Het
Fbxo30 T A 10: 11,166,165 (GRCm39) C296S probably benign Het
Fndc3a T C 14: 72,794,025 (GRCm39) K883E probably benign Het
Glyr1 A T 16: 4,836,856 (GRCm39) M436K probably benign Het
Gm525 A T 11: 88,965,872 (GRCm39) Q38L probably benign Het
Gnas T A 2: 174,187,040 (GRCm39) V941D probably damaging Het
Hectd4 G C 5: 121,486,682 (GRCm39) E3226Q possibly damaging Het
Ints13 G A 6: 146,451,604 (GRCm39) R714C probably benign Het
Kif12 A T 4: 63,088,755 (GRCm39) W182R probably damaging Het
Kif21a A G 15: 90,835,548 (GRCm39) L1272P probably damaging Het
Klhl14 A C 18: 21,687,791 (GRCm39) Y544D probably damaging Het
Kntc1 T C 5: 123,945,372 (GRCm39) probably null Het
Lama1 G A 17: 68,045,782 (GRCm39) R229Q possibly damaging Het
Ltbp1 T A 17: 75,580,944 (GRCm39) probably null Het
Map4k5 A T 12: 69,871,429 (GRCm39) C498S probably damaging Het
Myh9 A T 15: 77,655,362 (GRCm39) V1198E probably benign Het
Ncoa6 T C 2: 155,253,528 (GRCm39) D950G probably damaging Het
Obsl1 G T 1: 75,469,699 (GRCm39) A1106D probably damaging Het
Or5m9 T A 2: 85,876,910 (GRCm39) V28E possibly damaging Het
Or8k27 T C 2: 86,275,922 (GRCm39) I135V probably benign Het
Otog T A 7: 45,890,545 (GRCm39) probably null Het
Oxtr A T 6: 112,454,222 (GRCm39) I14N probably damaging Het
Pfkfb3 A T 2: 11,485,141 (GRCm39) S490R probably damaging Het
Polk A C 13: 96,620,760 (GRCm39) M560R probably benign Het
Polq C T 16: 36,907,043 (GRCm39) H2335Y probably benign Het
Prr14 T A 7: 127,074,725 (GRCm39) V419D possibly damaging Het
Rflnb A G 11: 75,912,992 (GRCm39) V132A probably damaging Het
Rxfp1 T G 3: 79,568,627 (GRCm39) I283L possibly damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Scnn1g T A 7: 121,337,438 (GRCm39) C100S probably damaging Het
Sfrp2 G C 3: 83,673,933 (GRCm39) G29R possibly damaging Het
Spop A G 11: 95,381,208 (GRCm39) H312R probably damaging Het
Tpx2 A G 2: 152,727,151 (GRCm39) probably null Het
Wdr4 A T 17: 31,718,063 (GRCm39) V337E probably damaging Het
Zbtb11 A G 16: 55,827,392 (GRCm39) N953D probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging 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
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'- TGGAGGTAATTAGCAAGCTGC -3'
(R):5'- AGCTAGGCATGTTGGCACAC -3'

Sequencing Primer
(F):5'- AGTAGAGAAATAACTGCAGTGTTTTG -3'
(R):5'- CCATGCAGGTCTACATAGAGAGTTC -3'
Posted On 2016-11-21