Incidental Mutation 'PIT4812001:Clip1'
ID 556904
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4812001 (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 A at 123768738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 620 (R620S)
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: R666S

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031382
Gene: ENSMUSG00000049550
AA Change: R666S

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: R655S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000068241
Gene: ENSMUSG00000049550
AA Change: R655S

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: R655S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107186
Gene: ENSMUSG00000049550
AA Change: R655S

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: R620S

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107190
Gene: ENSMUSG00000049550
AA Change: R620S

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: R620S

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107192
Gene: ENSMUSG00000049550
AA Change: R620S

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: ENSMUSP00000121425
Gene: ENSMUSG00000049550
AA Change: R407S

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: ENSMUST00000144121
SMART Domains Protein: ENSMUSP00000119641
Gene: ENSMUSG00000049550

DomainStartEndE-ValueType
CAP_GLY 37 102 1.05e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149410
AA Change: R589S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115965
Gene: ENSMUSG00000049550
AA Change: R589S

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: 93.8%
  • 3x: 91.0%
  • 10x: 85.3%
  • 20x: 73.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,630,053 (GRCm39) S252P possibly damaging Het
4933409G03Rik G A 2: 68,419,292 (GRCm39) V14I probably benign Het
Adgrf5 T G 17: 43,761,260 (GRCm39) V985G probably damaging Het
Ankrd44 A T 1: 54,762,197 (GRCm39) Y542* probably null Het
Atp13a3 T C 16: 30,181,396 (GRCm39) T75A probably damaging Het
Atr T C 9: 95,792,702 (GRCm39) F1675L probably benign Het
Atrnl1 A G 19: 57,720,055 (GRCm39) I1082V probably benign Het
Cped1 T C 6: 22,122,293 (GRCm39) F391S probably benign Het
Cracr2a T C 6: 127,602,833 (GRCm39) L230P probably damaging Het
Dctn1 T A 6: 83,176,744 (GRCm39) V1266E possibly damaging Het
Dlg1 T A 16: 31,665,703 (GRCm39) F687I probably benign Het
Dnah8 C A 17: 30,927,419 (GRCm39) D1358E probably benign Het
Dnajc11 A G 4: 152,037,346 (GRCm39) R84G probably benign Het
Dnajc14 C A 10: 128,642,552 (GRCm39) T158N probably damaging Het
Dscc1 A G 15: 54,945,657 (GRCm39) L346P probably damaging Het
Efcab3 A G 11: 104,990,805 (GRCm39) I71V probably null Het
Erbb3 T A 10: 128,410,248 (GRCm39) Q670L possibly damaging Het
Ercc4 G A 16: 12,962,311 (GRCm39) E652K probably benign Het
Ercc6l2 T A 13: 64,006,071 (GRCm39) V591D possibly damaging Het
Fam3c C T 6: 22,321,369 (GRCm39) G134E probably damaging Het
Frmd5 A G 2: 121,416,927 (GRCm39) V70A probably benign Het
Gjd3 A T 11: 102,691,807 (GRCm39) Y65* probably null Het
Gm3033 A C 14: 3,848,891 (GRCm38) L137F Het
Gria4 C A 9: 4,427,128 (GRCm39) A771S probably damaging Het
Hc A G 2: 34,919,464 (GRCm39) L674P probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hycc2 T G 1: 58,587,862 (GRCm39) D117A possibly damaging Het
Inpp5f A T 7: 128,294,032 (GRCm39) Y696F probably benign Het
Itga11 C A 9: 62,639,475 (GRCm39) Q157K probably damaging Het
Itgb5 G T 16: 33,740,357 (GRCm39) C489F probably damaging Het
Klhl38 C T 15: 58,185,938 (GRCm39) G264S probably benign Het
Krt78 C T 15: 101,856,504 (GRCm39) V436M probably damaging Het
Mia2 A T 12: 59,148,365 (GRCm39) D75V possibly damaging Het
Mphosph6 T A 8: 118,525,888 (GRCm39) Q20L probably damaging Het
Ogfr C T 2: 180,237,304 (GRCm39) P630S possibly damaging Het
Or2c1 A T 16: 3,657,394 (GRCm39) K186* probably null Het
Or4c11 G A 2: 88,695,314 (GRCm39) V122M probably benign Het
Or5an9 T G 19: 12,187,617 (GRCm39) I229S probably damaging Het
Pbx3 T C 2: 34,114,631 (GRCm39) E101G probably damaging Het
Pcca T A 14: 123,027,794 (GRCm39) N587K probably benign Het
Pdia3 G T 2: 121,264,011 (GRCm39) A287S probably damaging Het
Pfas T A 11: 68,880,862 (GRCm39) D209V Het
Pramel29 A G 4: 143,936,086 (GRCm39) I56T probably benign Het
Pter A T 2: 12,985,179 (GRCm39) I170F probably damaging Het
Ptprq A T 10: 107,502,428 (GRCm39) V830E probably damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Rbm19 T C 5: 120,266,315 (GRCm39) V446A possibly damaging Het
Selp A G 1: 163,959,832 (GRCm39) N363D probably benign Het
Six2 C A 17: 85,992,729 (GRCm39) S258I possibly damaging Het
Smc1b A G 15: 84,953,852 (GRCm39) V1139A possibly damaging Het
Sp1 A G 15: 102,316,843 (GRCm39) T121A possibly damaging Het
Sucla2 A T 14: 73,816,889 (GRCm39) I210L possibly damaging Het
Trank1 T C 9: 111,176,980 (GRCm39) L339P probably damaging Het
Ttll5 T A 12: 85,973,635 (GRCm39) D794E probably benign Het
Usp32 C T 11: 84,900,900 (GRCm39) V1107I probably damaging Het
Vmn1r195 T C 13: 22,463,033 (GRCm39) Y168H probably benign Het
Vmn1r223 A G 13: 23,434,060 (GRCm39) N218S probably damaging Het
Vmn2r25 T A 6: 123,800,447 (GRCm39) S632C probably damaging Het
Vwa3a A T 7: 120,375,356 (GRCm39) K390I probably damaging Het
Zfp442 A T 2: 150,251,661 (GRCm39) C80* probably null Het
Zic1 A T 9: 91,246,394 (GRCm39) I226N 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
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
Predicted Primers PCR Primer
(F):5'- ATTTCCACTAGGTGCTGGTC -3'
(R):5'- ACGGCCACTGAGAAGCTTTC -3'

Sequencing Primer
(F):5'- CCACTAGGTGCTGGTCTTCTG -3'
(R):5'- TTTCCAAAGAGAACGAGTCCCTGAG -3'
Posted On 2019-06-07