Incidental Mutation 'R6228:Caskin1'
ID 504511
Institutional Source Beutler Lab
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
MMRRC Submission 044357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R6228 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24707575-24727645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 24726154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1420 (D1420E)
Ref Sequence ENSEMBL: ENSMUSP00000024958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176668]
AlphaFold Q6P9K8
Predicted Effect probably damaging
Transcript: ENSMUST00000024958
AA Change: D1420E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: D1420E

DomainStartEndE-ValueType
ANK 48 77 9.93e-5 SMART
ANK 81 110 1.9e-1 SMART
ANK 114 143 1.51e-4 SMART
ANK 147 176 1.15e0 SMART
ANK 188 217 2.6e-8 SMART
ANK 220 249 3.31e-1 SMART
SH3 284 346 3.62e-5 SMART
Pfam:Caskin1-CID 373 421 3e-26 PFAM
SAM 473 539 3.63e-15 SMART
SAM 542 609 5.41e-14 SMART
low complexity region 631 647 N/A INTRINSIC
low complexity region 667 679 N/A INTRINSIC
low complexity region 715 724 N/A INTRINSIC
low complexity region 841 863 N/A INTRINSIC
Pfam:Caskin-Pro-rich 878 966 3e-37 PFAM
low complexity region 1163 1168 N/A INTRINSIC
low complexity region 1190 1216 N/A INTRINSIC
low complexity region 1222 1232 N/A INTRINSIC
low complexity region 1269 1288 N/A INTRINSIC
low complexity region 1294 1312 N/A INTRINSIC
low complexity region 1315 1333 N/A INTRINSIC
low complexity region 1344 1359 N/A INTRINSIC
Pfam:Caskin-tail 1369 1431 7.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070777
SMART Domains Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 92 125 4.73e-6 SMART
coiled coil region 264 332 N/A INTRINSIC
WD40 344 383 8.35e-11 SMART
WD40 387 424 8.42e-7 SMART
WD40 427 463 2.09e-2 SMART
WD40 468 504 1.92e0 SMART
WD40 507 544 5.15e-2 SMART
WD40 547 588 1.78e-5 SMART
WD40 591 628 1.63e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088464
SMART Domains Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
Pfam:zf-TRAF 221 277 3.4e-8 PFAM
coiled coil region 304 372 N/A INTRINSIC
WD40 384 423 8.35e-11 SMART
WD40 427 464 8.42e-7 SMART
WD40 467 503 2.09e-2 SMART
WD40 508 544 1.92e0 SMART
WD40 547 584 5.15e-2 SMART
WD40 587 628 1.78e-5 SMART
WD40 631 668 1.63e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175732
Predicted Effect probably benign
Transcript: ENSMUST00000176086
SMART Domains Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 103 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176353
SMART Domains Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
RING 92 125 4.73e-6 SMART
coiled coil region 264 332 N/A INTRINSIC
WD40 344 383 8.35e-11 SMART
WD40 387 424 8.42e-7 SMART
WD40 427 463 2.09e-2 SMART
WD40 468 504 1.92e0 SMART
WD40 507 544 5.15e-2 SMART
WD40 547 588 1.78e-5 SMART
WD40 591 628 1.63e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Predicted Effect probably benign
Transcript: ENSMUST00000176652
SMART Domains Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 90 104 N/A INTRINSIC
low complexity region 109 117 N/A INTRINSIC
RING 130 163 4.73e-6 SMART
coiled coil region 304 372 N/A INTRINSIC
WD40 384 423 8.35e-11 SMART
WD40 427 464 8.42e-7 SMART
WD40 467 503 2.09e-2 SMART
WD40 508 544 1.92e0 SMART
WD40 547 584 5.15e-2 SMART
WD40 587 628 1.78e-5 SMART
WD40 631 668 1.63e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176530
Predicted Effect probably benign
Transcript: ENSMUST00000177502
SMART Domains Protein: ENSMUSP00000134970
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
RING 24 68 4.24e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176668
SMART Domains Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (93/93)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G T 7: 45,679,680 (GRCm39) T9K probably benign Het
Ankrd28 T C 14: 31,429,177 (GRCm39) H925R probably damaging Het
Antxrl A T 14: 33,778,556 (GRCm39) T128S probably damaging Het
Atosa A G 9: 74,913,645 (GRCm39) M100V possibly damaging Het
Atp8b5 T C 4: 43,304,674 (GRCm39) Y62H probably damaging Het
Bmpr2 G T 1: 59,906,595 (GRCm39) V563L probably benign Het
Btn1a1 A T 13: 23,648,521 (GRCm39) L104Q probably damaging Het
Cdc14a A T 3: 116,144,862 (GRCm39) I150N probably damaging Het
Cdc26 C T 4: 62,321,031 (GRCm39) R4Q probably damaging Het
Cfap46 T C 7: 139,236,496 (GRCm39) D160G probably damaging Het
Cxcr4 A C 1: 128,519,920 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dgat1 T C 15: 76,387,493 (GRCm39) N317S possibly damaging Het
Disp1 G A 1: 182,880,589 (GRCm39) T228M possibly damaging Het
Dixdc1 A C 9: 50,614,656 (GRCm39) probably null Het
Dnase1l2 C A 17: 24,661,492 (GRCm39) probably benign Het
Dsg2 T C 18: 20,727,350 (GRCm39) probably null Het
Duox2 A T 2: 122,117,674 (GRCm39) F887I probably benign Het
Duxf4 A G 10: 58,071,344 (GRCm39) M290T probably benign Het
Efcab6 T C 15: 83,851,825 (GRCm39) D351G possibly damaging Het
Ep400 A G 5: 110,818,808 (GRCm39) V2621A probably damaging Het
Epg5 G T 18: 77,991,677 (GRCm39) V125F possibly damaging Het
Ephb1 T C 9: 101,800,783 (GRCm39) R953G probably damaging Het
Etfdh G T 3: 79,519,336 (GRCm39) Y272* probably null Het
Fam117b A G 1: 60,008,207 (GRCm39) E347G probably damaging Het
Gfra3 A T 18: 34,828,846 (GRCm39) C183S probably damaging Het
Gmip A G 8: 70,268,773 (GRCm39) D466G probably damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Gpd1 A T 15: 99,621,146 (GRCm39) Q320L possibly damaging Het
H2-Oa G T 17: 34,312,851 (GRCm39) D43Y probably damaging Het
Hecw1 T A 13: 14,520,623 (GRCm39) I205F probably damaging Het
Ighv8-13 A G 12: 115,728,973 (GRCm39) Y95H probably damaging Het
Igkv6-20 T C 6: 70,313,081 (GRCm39) M31V possibly damaging Het
Itih1 T C 14: 30,653,217 (GRCm39) D737G probably benign Het
Kcnc4 G C 3: 107,355,693 (GRCm39) H252D probably damaging Het
Kcnj14 T A 7: 45,468,921 (GRCm39) T195S probably damaging Het
Limch1 A T 5: 67,173,845 (GRCm39) D642V probably damaging Het
Lrp2 T G 2: 69,312,710 (GRCm39) D2526A possibly damaging Het
Lrrc8a A G 2: 30,146,565 (GRCm39) T460A possibly damaging Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Lypd8 A T 11: 58,277,629 (GRCm39) Q137L possibly damaging Het
Mapkapk3 A G 9: 107,137,262 (GRCm39) Y206H probably damaging Het
Mrc1 G A 2: 14,276,115 (GRCm39) G483D probably benign Het
Mrpl35 C A 6: 71,800,661 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,497,665 (GRCm39) H936L probably benign Het
Myh3 A T 11: 66,978,312 (GRCm39) Y433F probably benign Het
Napb C T 2: 148,540,098 (GRCm39) probably null Het
Nbeal1 C A 1: 60,335,083 (GRCm39) Q2288K probably benign Het
Ndst3 G A 3: 123,465,301 (GRCm39) Q224* probably null Het
Nkapd1 A G 9: 50,518,971 (GRCm39) S214P possibly damaging Het
Nkd2 A G 13: 73,969,579 (GRCm39) S284P probably benign Het
Or10a2 T C 7: 106,673,343 (GRCm39) Y103H probably damaging Het
Or5b12 A T 19: 12,897,301 (GRCm39) V124E probably damaging Het
Or6k2 G A 1: 173,979,712 (GRCm39) S210N probably benign Het
Or8h10 T C 2: 86,809,035 (GRCm39) Y35C probably damaging Het
Pcdhb8 A G 18: 37,490,037 (GRCm39) T572A probably benign Het
Pcdhb9 A G 18: 37,535,115 (GRCm39) I370V probably benign Het
Pcsk5 T G 19: 17,558,631 (GRCm39) E592A possibly damaging Het
Pigc T C 1: 161,798,036 (GRCm39) V6A probably benign Het
Pla2g6 T G 15: 79,189,924 (GRCm39) I389L probably benign Het
Pnliprp2 T C 19: 58,751,874 (GRCm39) probably null Het
Psmb11 T C 14: 54,863,646 (GRCm39) V288A probably benign Het
Rapgef5 A G 12: 117,685,398 (GRCm39) probably null Het
Rcn3 T C 7: 44,732,720 (GRCm39) N316S probably damaging Het
Rgs6 A G 12: 83,112,738 (GRCm39) K183E probably damaging Het
Rhoc A G 3: 104,700,297 (GRCm39) probably null Het
Serinc5 T C 13: 92,844,616 (GRCm39) C453R probably damaging Het
Slc14a1 A C 18: 78,159,614 (GRCm39) M93R probably damaging Het
Slc25a3 A T 10: 90,958,090 (GRCm39) D83E probably damaging Het
Slc36a3 T C 11: 55,015,777 (GRCm39) Y459C probably benign Het
Slc44a5 A T 3: 153,944,800 (GRCm39) Y139F probably benign Het
Spag17 A T 3: 99,929,918 (GRCm39) Q539L probably benign Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Stard9 A G 2: 120,544,231 (GRCm39) Y4450C probably damaging Het
Taf6l C T 19: 8,756,030 (GRCm39) R206Q probably benign Het
Tbc1d23 C T 16: 57,003,266 (GRCm39) V501I probably damaging Het
Thap2 T C 10: 115,208,751 (GRCm39) H123R probably damaging Het
Tlx3 C A 11: 33,152,432 (GRCm39) W221L probably benign Het
Tmem262 T A 19: 6,130,567 (GRCm39) probably null Het
Tpmt C A 13: 47,180,735 (GRCm39) R201S probably benign Het
Trpm6 T C 19: 18,831,655 (GRCm39) S1507P probably damaging Het
Ttc9c T C 19: 8,795,847 (GRCm39) E64G possibly damaging Het
Ttn A T 2: 76,640,790 (GRCm39) S13653T probably damaging Het
Ugt3a1 G T 15: 9,310,726 (GRCm39) W336L possibly damaging Het
Vmn1r215 C A 13: 23,260,633 (GRCm39) N224K probably benign Het
Vmn2r59 C T 7: 41,691,835 (GRCm39) probably null Het
Wdfy3 A G 5: 102,046,295 (GRCm39) S1853P possibly damaging Het
Wdr36 A T 18: 32,975,059 (GRCm39) Y137F possibly damaging Het
Zdhhc17 T C 10: 110,792,216 (GRCm39) D324G probably benign Het
Zfp217 T C 2: 169,961,497 (GRCm39) T277A probably benign Het
Zfp451 A G 1: 33,842,219 (GRCm39) probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp871 T C 17: 32,994,858 (GRCm39) S106G possibly damaging Het
Other mutations in Caskin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Caskin1 APN 17 24,722,863 (GRCm39) missense probably damaging 1.00
IGL00846:Caskin1 APN 17 24,718,323 (GRCm39) critical splice donor site probably null
IGL01120:Caskin1 APN 17 24,724,343 (GRCm39) missense possibly damaging 0.56
IGL01543:Caskin1 APN 17 24,723,522 (GRCm39) missense probably benign
IGL01622:Caskin1 APN 17 24,722,914 (GRCm39) critical splice donor site probably null
IGL01623:Caskin1 APN 17 24,722,914 (GRCm39) critical splice donor site probably null
IGL02120:Caskin1 APN 17 24,719,916 (GRCm39) missense probably damaging 1.00
IGL02816:Caskin1 APN 17 24,721,144 (GRCm39) missense probably benign 0.06
IGL02898:Caskin1 APN 17 24,721,383 (GRCm39) missense probably benign 0.00
IGL03353:Caskin1 APN 17 24,718,331 (GRCm39) splice site probably benign
PIT4151001:Caskin1 UTSW 17 24,721,193 (GRCm39) missense probably damaging 1.00
PIT4453001:Caskin1 UTSW 17 24,718,266 (GRCm39) missense probably damaging 1.00
R0057:Caskin1 UTSW 17 24,723,870 (GRCm39) missense probably damaging 1.00
R0057:Caskin1 UTSW 17 24,723,870 (GRCm39) missense probably damaging 1.00
R0190:Caskin1 UTSW 17 24,723,596 (GRCm39) missense possibly damaging 0.92
R0443:Caskin1 UTSW 17 24,724,374 (GRCm39) missense probably damaging 0.96
R0885:Caskin1 UTSW 17 24,724,668 (GRCm39) missense probably damaging 1.00
R1035:Caskin1 UTSW 17 24,724,011 (GRCm39) missense probably damaging 1.00
R1253:Caskin1 UTSW 17 24,724,047 (GRCm39) missense probably damaging 1.00
R1497:Caskin1 UTSW 17 24,723,515 (GRCm39) nonsense probably null
R1589:Caskin1 UTSW 17 24,724,452 (GRCm39) splice site probably null
R1651:Caskin1 UTSW 17 24,721,186 (GRCm39) missense possibly damaging 0.82
R1944:Caskin1 UTSW 17 24,719,745 (GRCm39) missense probably damaging 0.99
R1969:Caskin1 UTSW 17 24,725,824 (GRCm39) missense possibly damaging 0.94
R2057:Caskin1 UTSW 17 24,715,433 (GRCm39) missense probably damaging 0.99
R2127:Caskin1 UTSW 17 24,715,970 (GRCm39) critical splice donor site probably null
R2158:Caskin1 UTSW 17 24,724,128 (GRCm39) missense probably benign
R2402:Caskin1 UTSW 17 24,722,782 (GRCm39) missense probably damaging 1.00
R2895:Caskin1 UTSW 17 24,708,016 (GRCm39) missense probably damaging 1.00
R3423:Caskin1 UTSW 17 24,718,539 (GRCm39) missense probably damaging 0.98
R3800:Caskin1 UTSW 17 24,720,246 (GRCm39) missense probably benign
R4108:Caskin1 UTSW 17 24,721,121 (GRCm39) missense probably benign
R4419:Caskin1 UTSW 17 24,723,683 (GRCm39) missense probably damaging 1.00
R4510:Caskin1 UTSW 17 24,725,602 (GRCm39) missense probably benign 0.11
R4511:Caskin1 UTSW 17 24,725,602 (GRCm39) missense probably benign 0.11
R4552:Caskin1 UTSW 17 24,725,602 (GRCm39) missense probably benign 0.11
R4638:Caskin1 UTSW 17 24,725,602 (GRCm39) missense probably benign 0.11
R4642:Caskin1 UTSW 17 24,725,602 (GRCm39) missense probably benign 0.11
R4644:Caskin1 UTSW 17 24,725,602 (GRCm39) missense probably benign 0.11
R4824:Caskin1 UTSW 17 24,720,103 (GRCm39) missense probably benign 0.01
R4882:Caskin1 UTSW 17 24,723,389 (GRCm39) missense probably damaging 1.00
R4964:Caskin1 UTSW 17 24,726,135 (GRCm39) missense probably damaging 1.00
R4966:Caskin1 UTSW 17 24,726,135 (GRCm39) missense probably damaging 1.00
R5809:Caskin1 UTSW 17 24,723,521 (GRCm39) missense probably benign 0.06
R5841:Caskin1 UTSW 17 24,715,183 (GRCm39) missense probably damaging 0.99
R5877:Caskin1 UTSW 17 24,724,239 (GRCm39) missense possibly damaging 0.69
R5960:Caskin1 UTSW 17 24,717,869 (GRCm39) missense probably benign 0.31
R5994:Caskin1 UTSW 17 24,715,935 (GRCm39) missense probably damaging 0.98
R6022:Caskin1 UTSW 17 24,715,709 (GRCm39) missense probably benign 0.37
R6209:Caskin1 UTSW 17 24,726,095 (GRCm39) missense possibly damaging 0.84
R6287:Caskin1 UTSW 17 24,715,683 (GRCm39) missense probably damaging 1.00
R6497:Caskin1 UTSW 17 24,723,522 (GRCm39) missense probably benign
R6873:Caskin1 UTSW 17 24,723,153 (GRCm39) missense probably benign 0.31
R7079:Caskin1 UTSW 17 24,717,858 (GRCm39) missense probably benign 0.31
R7156:Caskin1 UTSW 17 24,719,657 (GRCm39) splice site probably null
R7385:Caskin1 UTSW 17 24,722,898 (GRCm39) missense probably damaging 1.00
R7953:Caskin1 UTSW 17 24,723,195 (GRCm39) missense probably damaging 1.00
R7993:Caskin1 UTSW 17 24,718,279 (GRCm39) nonsense probably null
R8410:Caskin1 UTSW 17 24,721,123 (GRCm39) missense possibly damaging 0.90
R8511:Caskin1 UTSW 17 24,724,910 (GRCm39) missense probably benign 0.12
R8749:Caskin1 UTSW 17 24,723,774 (GRCm39) missense probably benign 0.00
R8881:Caskin1 UTSW 17 24,718,273 (GRCm39) missense probably damaging 1.00
R8979:Caskin1 UTSW 17 24,717,899 (GRCm39) missense possibly damaging 0.51
R9005:Caskin1 UTSW 17 24,718,111 (GRCm39) missense probably benign 0.00
R9341:Caskin1 UTSW 17 24,723,447 (GRCm39) missense probably damaging 1.00
R9343:Caskin1 UTSW 17 24,723,447 (GRCm39) missense probably damaging 1.00
X0022:Caskin1 UTSW 17 24,724,140 (GRCm39) missense probably benign 0.34
X0063:Caskin1 UTSW 17 24,726,156 (GRCm39) missense probably damaging 1.00
Z1176:Caskin1 UTSW 17 24,724,012 (GRCm39) missense probably damaging 1.00
Z1177:Caskin1 UTSW 17 24,715,661 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTGCCAGTGGACTGCTATG -3'
(R):5'- AGTTGTTGCACAGGGAGCAG -3'

Sequencing Primer
(F):5'- CCAGTGGACTGCTATGGGTAG -3'
(R):5'- ATCTGCTCAGAGCCCTTGGAG -3'
Posted On 2018-02-28