Incidental Mutation 'R7143:Clip1'
ID 553532
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 045222-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7143 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 123715857-123822527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123791673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 166 (I166V)
Ref Sequence ENSEMBL: ENSMUSP00000107190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031382] [ENSMUST00000063905] [ENSMUST00000111561] [ENSMUST00000111564] [ENSMUST00000111566] [ENSMUST00000149410]
AlphaFold Q922J3
PDB Structure Solution structure of the 1st CAP-Gly domain in mouse CLIP-170/restin [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000031382
AA Change: I166V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031382
Gene: ENSMUSG00000049550
AA Change: I166V

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
AA Change: I166V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068241
Gene: ENSMUSG00000049550
AA Change: I166V

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: I166V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107186
Gene: ENSMUSG00000049550
AA Change: I166V

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: I166V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107190
Gene: ENSMUSG00000049550
AA Change: I166V

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: I166V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107192
Gene: ENSMUSG00000049550
AA Change: I166V

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
SMART Domains Protein: ENSMUSP00000119641
Gene: ENSMUSG00000049550
AA Change: I142V

DomainStartEndE-ValueType
CAP_GLY 37 102 1.05e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149410
AA Change: I166V

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115965
Gene: ENSMUSG00000049550
AA Change: I166V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik C T 7: 103,708,422 (GRCm39) C129Y probably damaging Het
Agbl4 A G 4: 111,474,333 (GRCm39) N374S probably damaging Het
Agl A G 3: 116,585,670 (GRCm39) S153P probably damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Ankrd17 C A 5: 90,433,820 (GRCm39) A650S possibly damaging Het
Ankrd53 A G 6: 83,739,893 (GRCm39) R16G possibly damaging Het
Apba2 T C 7: 64,394,165 (GRCm39) L570P probably damaging Het
Asap1 A G 15: 64,063,377 (GRCm39) F101L probably damaging Het
Cadm4 T A 7: 24,198,992 (GRCm39) I89N possibly damaging Het
Cadps C T 14: 12,491,838 (GRCm38) V771I probably benign Het
Cenph A G 13: 100,898,285 (GRCm39) V206A possibly damaging Het
Cenpn A G 8: 117,663,966 (GRCm39) T253A probably benign Het
Cep120 C T 18: 53,816,457 (GRCm39) G939R probably benign Het
Cfap57 G A 4: 118,477,906 (GRCm39) probably benign Het
Cstf3 T A 2: 104,476,961 (GRCm39) V144E probably benign Het
Cyp21a1 T A 17: 35,021,300 (GRCm39) H357L probably damaging Het
Cyth3 T A 5: 143,670,151 (GRCm39) V12E unknown Het
Dgat2 T C 7: 98,806,331 (GRCm39) I289V probably benign Het
Dip2a A G 10: 76,133,625 (GRCm39) C527R probably damaging Het
Dnah17 A C 11: 117,976,956 (GRCm39) W1879G probably damaging Het
Dnai2 A G 11: 114,645,076 (GRCm39) T504A possibly damaging Het
Efl1 C T 7: 82,411,888 (GRCm39) P759L probably damaging Het
Egfr A C 11: 16,821,627 (GRCm39) I351L probably benign Het
Ercc6 G A 14: 32,292,262 (GRCm39) E1209K probably damaging Het
Fam135b A T 15: 71,351,000 (GRCm39) M292K probably benign Het
Fbxl7 C A 15: 26,543,244 (GRCm39) V468L probably benign Het
Fhl2 G T 1: 43,181,011 (GRCm39) H60N probably damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Gata4 C A 14: 63,442,066 (GRCm39) R252L probably damaging Het
Glt8d1 T A 14: 30,728,602 (GRCm39) I10N probably damaging Het
Gm10803 T A 2: 93,394,304 (GRCm39) Y25* probably null Het
Gm19345 T C 7: 19,591,759 (GRCm39) F108S unknown Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Gprc6a C T 10: 51,490,986 (GRCm39) R921H probably benign Het
Hc A T 2: 34,940,450 (GRCm39) H129Q probably benign Het
Heatr5a T C 12: 52,008,251 (GRCm39) R31G probably benign Het
Hephl1 T C 9: 14,972,106 (GRCm39) K945E possibly damaging Het
Ik G T 18: 36,884,230 (GRCm39) M237I probably damaging Het
Izumo1 T A 7: 45,276,519 (GRCm39) S361T probably benign Het
Kcnq4 A G 4: 120,568,436 (GRCm39) F427L probably benign Het
Kifap3 T A 1: 163,683,609 (GRCm39) M430K possibly damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Lamb3 A G 1: 192,986,873 (GRCm39) E53G probably damaging Het
Lrp1b A T 2: 41,202,655 (GRCm39) I1266K Het
Nat8 A T 6: 85,807,485 (GRCm39) I216K probably benign Het
Ncapd2 T C 6: 125,156,524 (GRCm39) I454V probably benign Het
Nlrp4f A T 13: 65,343,120 (GRCm39) V153E probably damaging Het
Nlrp4f G C 13: 65,347,166 (GRCm39) Q9E possibly damaging Het
Npy2r A T 3: 82,448,250 (GRCm39) I175N probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or1l4b A G 2: 37,036,886 (GRCm39) T221A probably benign Het
Or4a74 T C 2: 89,440,363 (GRCm39) M28V probably benign Het
Or52n3 C T 7: 104,530,393 (GRCm39) P160S probably damaging Het
Pcdh9 T C 14: 94,125,708 (GRCm39) N154S probably damaging Het
Pcdhb2 A T 18: 37,428,934 (GRCm39) E302D probably benign Het
Pclo T A 5: 14,908,836 (GRCm39) V5048E unknown Het
Pcnt A G 10: 76,224,894 (GRCm39) L1870S possibly damaging Het
Pigc T C 1: 161,798,161 (GRCm39) Y48H probably damaging Het
Pisd C T 5: 32,895,846 (GRCm39) V241I possibly damaging Het
Pkhd1l1 A T 15: 44,437,033 (GRCm39) M3464L possibly damaging Het
Pofut2 T A 10: 77,095,260 (GRCm39) I35N probably benign Het
Prss27 A G 17: 24,264,632 (GRCm39) Y265C probably damaging Het
Prss56 T A 1: 87,115,875 (GRCm39) I583K probably benign Het
Rnpep T C 1: 135,211,487 (GRCm39) E87G probably benign Het
Shtn1 T C 19: 59,007,338 (GRCm39) H304R probably damaging Het
Slc23a4 A T 6: 34,955,848 (GRCm39) I62N probably damaging Het
Slc35e2 A T 4: 155,703,051 (GRCm39) I355F probably benign Het
Snx25 T C 8: 46,488,752 (GRCm39) I868V possibly damaging Het
Spatc1l T A 10: 76,405,765 (GRCm39) L323Q probably damaging Het
Speer4a2 T A 5: 26,290,674 (GRCm39) I166F probably benign Het
Taok1 A G 11: 77,428,814 (GRCm39) V962A probably benign Het
Tas2r140 A G 6: 133,032,482 (GRCm39) I92T probably benign Het
Trim17 C A 11: 58,856,010 (GRCm39) Y22* probably null Het
Tti1 T A 2: 157,849,596 (GRCm39) M548L probably benign Het
Unc93b1 T C 19: 3,985,204 (GRCm39) V4A unknown Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r225 A T 17: 20,722,646 (GRCm39) Y29F probably benign Het
Vmn1r34 A T 6: 66,614,648 (GRCm39) I30N probably benign Het
Vmn2r67 T A 7: 84,801,846 (GRCm39) M152L probably benign Het
Wdr20rt T G 12: 65,272,692 (GRCm39) F52V probably benign Het
Zfp869 G T 8: 70,159,306 (GRCm39) H422Q 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
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
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'- TGGACTTCAAAGAGAGGCCTTC -3'
(R):5'- GCGGTATTTCCAGTGTGAACC -3'

Sequencing Primer
(F):5'- CTTCTCTCAAGGGGAAGGAGG -3'
(R):5'- GGTATTTCCAGTGTGAACCTTTAAAG -3'
Posted On 2019-05-15