Incidental Mutation 'IGL01622:Caskin1'
ID 278659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL01622
Quality Score
Status
Chromosome 17
Chromosomal Location 24707575-24727645 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 24722914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000024958
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597

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: 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 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: ENSMUST00000177024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign 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
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
R6228:Caskin1 UTSW 17 24,726,154 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16