Incidental Mutation 'R0190:Caskin1'
ID 23186
Institutional Source Beutler Lab
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
MMRRC Submission 038451-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R0190 (G1)
Quality Score 180
Status Validated (trace)
Chromosome 17
Chromosomal Location 24707575-24727645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24723596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 795 (L795F)
Ref Sequence ENSEMBL: ENSMUSP00000024958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176668]
AlphaFold Q6P9K8
Predicted Effect possibly damaging
Transcript: ENSMUST00000024958
AA Change: L795F

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: L795F

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: ENSMUST00000177024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176805
Meta Mutation Damage Score 0.0701 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 91.6%
  • 20x: 72.5%
Validation Efficiency 75% (45/60)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,429 (GRCm39) probably null Het
Aff2 CA CAAA X: 68,892,711 (GRCm39) probably null Het
Ankrd34a A G 3: 96,505,105 (GRCm39) D103G probably damaging Het
Atp1b2 T C 11: 69,492,388 (GRCm39) D224G probably damaging Het
Atxn10 A G 15: 85,220,730 (GRCm39) D22G possibly damaging Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cdk12 T C 11: 98,132,657 (GRCm39) probably null Het
Crtc2 A G 3: 90,166,716 (GRCm39) H91R probably damaging Het
Dbt A G 3: 116,332,736 (GRCm39) probably null Het
Dda1 C A 8: 71,924,877 (GRCm39) Y41* probably null Het
Dnah2 T A 11: 69,326,075 (GRCm39) D3692V probably damaging Het
Dpep1 A G 8: 123,927,447 (GRCm39) T334A probably benign Het
Enthd1 C T 15: 80,418,695 (GRCm39) probably null Het
Fpr-rs6 T A 17: 20,402,741 (GRCm39) I207F probably benign Het
Fsip2 T A 2: 82,815,521 (GRCm39) S3751R possibly damaging Het
Gigyf2 A T 1: 87,356,410 (GRCm39) probably benign Het
Gtf3c4 C A 2: 28,730,140 (GRCm39) D34Y probably benign Het
Iftap G A 2: 101,416,775 (GRCm39) S58L probably benign Het
Igfn1 A T 1: 135,889,790 (GRCm39) V2419E probably damaging Het
Kank1 A T 19: 25,386,647 (GRCm39) I79L probably benign Het
Kif21b A G 1: 136,098,957 (GRCm39) H1415R probably benign Het
Mad2l1 T C 6: 66,516,862 (GRCm39) S185P possibly damaging Het
Mettl18 A G 1: 163,823,991 (GRCm39) E104G probably damaging Het
Mrgprb2 G A 7: 48,202,525 (GRCm39) H67Y possibly damaging Het
Mrgprd G A 7: 144,875,439 (GRCm39) M103I probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Npc1 G A 18: 12,324,887 (GRCm39) T1202I probably damaging Het
Nucks1 A G 1: 131,852,329 (GRCm39) D60G probably damaging Het
Or10g7 A G 9: 39,905,840 (GRCm39) I245V probably benign Het
Or13f5 G C 4: 52,825,613 (GRCm39) W72S probably damaging Het
Or4a72 T A 2: 89,405,302 (GRCm39) Y256F probably damaging Het
Paqr8 A G 1: 21,005,271 (GRCm39) T142A probably benign Het
Pdss1 T C 2: 22,796,843 (GRCm39) S119P probably damaging Het
Plcl2 A G 17: 50,914,671 (GRCm39) D560G probably benign Het
Ppm1b T A 17: 85,301,531 (GRCm39) V137E probably damaging Het
Ppp1r16b A C 2: 158,537,983 (GRCm39) K35Q probably damaging Het
Prkd2 A T 7: 16,603,815 (GRCm39) E832V probably damaging Het
Rab34 G T 11: 78,082,232 (GRCm39) K191N possibly damaging Het
Rad51ap2 A C 12: 11,508,540 (GRCm39) T821P probably benign Het
Rbm19 A G 5: 120,282,111 (GRCm39) T823A probably benign Het
Rpf2 T G 10: 40,103,597 (GRCm39) H106P probably damaging Het
Schip1 A G 3: 68,533,177 (GRCm39) M453V probably benign Het
Sema5a T A 15: 32,562,920 (GRCm39) N310K possibly damaging Het
Sf3b1 T C 1: 55,029,465 (GRCm39) D1179G probably damaging Het
Skint2 A T 4: 112,473,729 (GRCm39) T4S possibly damaging Het
Slc22a5 A T 11: 53,760,241 (GRCm39) Y358* probably null Het
Slc34a1 T C 13: 55,556,914 (GRCm39) M251T probably benign Het
Slc44a5 A G 3: 153,944,755 (GRCm39) D124G probably null Het
Slc9b1 G A 3: 135,063,434 (GRCm39) E73K unknown Het
Ssbp2 T C 13: 91,817,829 (GRCm39) L156P probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Trim47 A G 11: 115,997,053 (GRCm39) V568A probably damaging Het
Ttn A T 2: 76,718,324 (GRCm39) probably benign Het
Ttpa A T 4: 20,021,260 (GRCm39) I74F probably damaging Het
Vmn2r52 T C 7: 9,905,315 (GRCm39) I175V probably benign Het
Wrn C T 8: 33,731,011 (GRCm39) C1350Y probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp422 A T 6: 116,603,572 (GRCm39) D142E probably damaging Het
Zfp473 A T 7: 44,382,612 (GRCm39) C574S probably damaging Het
Zfp638 T A 6: 83,905,946 (GRCm39) M37K probably damaging Het
Zfp976 C A 7: 42,291,948 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAGGAATACCTGCTGGATGAGGG -3'
(R):5'- TCGGATGCTGCATAGCGATTCAAG -3'

Sequencing Primer
(F):5'- ATGAGGGGATGGCTCCTG -3'
(R):5'- CATAGCGATTCAAGCTGTGGG -3'
Posted On 2013-04-16