Incidental Mutation 'R0057:Caskin1'
ID 16308
Institutional Source Beutler Lab
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
MMRRC Submission 038351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R0057 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 24707575-24727645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24723870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 886 (N886S)
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: N886S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: N886S

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 probably benign
Transcript: ENSMUST00000176668
SMART Domains Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
Meta Mutation Damage Score 0.0738 question?
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.8%
  • 10x: 82.7%
  • 20x: 75.7%
Validation Efficiency 89% (65/73)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,832,385 (GRCm39) F1309L possibly damaging Het
Abcc6 C T 7: 45,669,567 (GRCm39) A163T probably benign Het
Adam23 T A 1: 63,610,078 (GRCm39) H693Q probably damaging Het
Afg3l2 A G 18: 67,556,156 (GRCm39) F392L probably damaging Het
Ak9 A T 10: 41,268,724 (GRCm39) T1055S probably benign Het
Ap5z1 T C 5: 142,456,144 (GRCm39) probably benign Het
Arhgef10l A G 4: 140,338,529 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,141 (GRCm39) probably benign Het
Celsr1 A C 15: 85,914,963 (GRCm39) S1003R probably benign Het
Ctse G T 1: 131,591,109 (GRCm39) D97Y probably damaging Het
Cux1 T A 5: 136,285,136 (GRCm39) I505F probably damaging Het
Dcaf11 T C 14: 55,806,767 (GRCm39) V490A probably benign Het
Dscam A C 16: 96,474,936 (GRCm39) W1209G probably damaging Het
Emc8 A G 8: 121,385,822 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,748 (GRCm39) K152R probably null Het
Eps8l2 C T 7: 140,922,884 (GRCm39) T49I probably benign Het
Fcsk C T 8: 111,620,400 (GRCm39) probably benign Het
Gm12251 C A 11: 58,283,867 (GRCm39) probably benign Het
Gna11 A G 10: 81,366,774 (GRCm39) M312T probably benign Het
Hacd2 T A 16: 34,895,997 (GRCm39) V105D probably damaging Het
Il17a T A 1: 20,803,881 (GRCm39) I92N probably damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Irak4 A C 15: 94,451,753 (GRCm39) R115S probably benign Het
Jarid2 C T 13: 45,038,332 (GRCm39) H77Y probably damaging Het
Kcnk6 A T 7: 28,925,088 (GRCm39) L176Q probably damaging Het
Kmt2b A T 7: 30,276,217 (GRCm39) probably benign Het
Kremen2 A C 17: 23,962,202 (GRCm39) I210S possibly damaging Het
Ldah T C 12: 8,288,432 (GRCm39) probably benign Het
Lgals9 A T 11: 78,862,262 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd4b4 T A 10: 39,891,097 (GRCm38) probably benign Het
Msh4 C T 3: 153,575,318 (GRCm39) A686T probably benign Het
Mycbp2 T C 14: 103,389,578 (GRCm39) N3411D probably damaging Het
Myt1l A G 12: 29,892,611 (GRCm39) probably null Het
Nmbr A G 10: 14,636,268 (GRCm39) N79S probably damaging Het
Npsr1 A T 9: 24,211,723 (GRCm39) I84F probably damaging Het
Or52h1 G T 7: 103,829,536 (GRCm39) H26Q probably benign Het
Or5m10b C A 2: 85,699,597 (GRCm39) Y220* probably null Het
Or6z5 T C 7: 6,477,679 (GRCm39) L190P probably damaging Het
Prlr A G 15: 10,328,509 (GRCm39) Y328C probably damaging Het
Rasal3 A G 17: 32,610,357 (GRCm39) S977P probably benign Het
Ros1 C T 10: 52,056,287 (GRCm39) V68I probably benign Het
Shmt2 G A 10: 127,356,917 (GRCm39) T31M possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Snrnp200 C G 2: 127,079,827 (GRCm39) L1899V probably damaging Het
Snrnp48 T A 13: 38,400,356 (GRCm39) C154* probably null Het
Tdrd6 G A 17: 43,928,052 (GRCm39) probably benign Het
Tmem175 C T 5: 108,787,428 (GRCm39) H92Y probably damaging Het
Tom1l1 G A 11: 90,575,975 (GRCm39) probably benign Het
Top3a C T 11: 60,631,510 (GRCm39) A951T probably benign Het
Tram2 C T 1: 21,076,378 (GRCm39) R184Q probably damaging Het
Trpc4ap T C 2: 155,482,406 (GRCm39) E528G possibly damaging Het
Vwa7 G A 17: 35,243,523 (GRCm39) S710N possibly damaging Het
Zfa-ps A T 10: 52,421,202 (GRCm39) noncoding transcript Het
Zfp770 T A 2: 114,027,713 (GRCm39) R119* probably null 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
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 2013-01-20