Incidental Mutation 'R2158:Caskin1'
ID 235016
Institutional Source Beutler Lab
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
MMRRC Submission 040161-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R2158 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24707575-24727645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24724128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 972 (V972A)
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 benign
Transcript: ENSMUST00000024958
AA Change: V972A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: V972A

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 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 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,766,608 (GRCm39) V65A possibly damaging Het
4930402F06Rik A T 2: 35,275,680 (GRCm39) S38T possibly damaging Het
Adam4 A G 12: 81,468,537 (GRCm39) L28S probably damaging Het
Agmo T A 12: 37,407,709 (GRCm39) F198I probably damaging Het
Akap7 A G 10: 25,047,062 (GRCm39) V45A probably damaging Het
Amotl1 G T 9: 14,486,465 (GRCm39) N476K probably benign Het
Apcs A G 1: 172,722,100 (GRCm39) L82P probably damaging Het
Armc3 C A 2: 19,253,444 (GRCm39) P195Q probably damaging Het
Astn2 A T 4: 66,322,491 (GRCm39) L36Q unknown Het
Atad2 A T 15: 57,961,962 (GRCm39) S870T possibly damaging Het
Bmp10 A T 6: 87,411,062 (GRCm39) D285V probably benign Het
Ccdc141 T A 2: 76,861,015 (GRCm39) N921Y probably damaging Het
Cntnap5b A T 1: 100,318,297 (GRCm39) D1019V probably damaging Het
Eml5 T C 12: 98,810,205 (GRCm39) probably benign Het
Evi5l T C 8: 4,243,195 (GRCm39) Y360H probably damaging Het
Ewsr1 A G 11: 5,041,450 (GRCm39) probably benign Het
Fn3k A T 11: 121,339,712 (GRCm39) N158I probably damaging Het
Galnt17 C T 5: 130,935,540 (GRCm39) R381Q probably damaging Het
Golga3 A T 5: 110,335,227 (GRCm39) K180N probably damaging Het
Hipk1 A G 3: 103,667,854 (GRCm39) L571P probably damaging Het
Hormad2 T A 11: 4,374,808 (GRCm39) K69* probably null Het
Hspg2 A T 4: 137,244,915 (GRCm39) D880V probably damaging Het
Ido2 T A 8: 25,030,652 (GRCm39) D226V probably damaging Het
Irs3 A G 5: 137,642,961 (GRCm39) F159S probably damaging Het
Itgb1bp1 T C 12: 21,326,860 (GRCm39) T38A probably damaging Het
Kif11 A G 19: 37,399,062 (GRCm39) I749V probably benign Het
Lrp1b T G 2: 40,769,567 (GRCm39) M2811L probably benign Het
Lysmd3 A G 13: 81,817,737 (GRCm39) Y238C probably damaging Het
Mapk11 G A 15: 89,030,575 (GRCm39) T106M probably damaging Het
Mdga2 C T 12: 66,736,155 (GRCm39) V358I possibly damaging Het
Muc4 C T 16: 32,754,563 (GRCm38) T1479I probably benign Het
Myom1 T C 17: 71,371,592 (GRCm39) V578A possibly damaging Het
Nek10 T G 14: 14,885,047 (GRCm38) probably null Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or2t47 T A 11: 58,442,768 (GRCm39) Q99L probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or51a24 T G 7: 103,734,033 (GRCm39) T85P probably benign Het
Or51v14 G C 7: 103,261,443 (GRCm39) T39R possibly damaging Het
Or52a5b G T 7: 103,417,168 (GRCm39) C145* probably null Het
Or8d23 T C 9: 38,841,875 (GRCm39) M136T probably damaging Het
Pde4dip A T 3: 97,664,937 (GRCm39) C333S probably benign Het
Pglyrp2 T A 17: 32,637,222 (GRCm39) I269F probably benign Het
Plch1 A G 3: 63,628,655 (GRCm39) V536A probably benign Het
Popdc2 T A 16: 38,183,188 (GRCm39) L57Q probably damaging Het
Pramel14 T C 4: 143,720,885 (GRCm39) R19G possibly damaging Het
Riox1 A G 12: 83,997,709 (GRCm39) K82E probably benign Het
Rnasel G A 1: 153,630,647 (GRCm39) V388M probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Snx25 A G 8: 46,494,444 (GRCm39) S814P probably damaging Het
Spta1 A T 1: 174,056,824 (GRCm39) H1859L probably benign Het
Strc T C 2: 121,196,343 (GRCm39) I1562V probably benign Het
Taar5 T A 10: 23,846,986 (GRCm39) I128N probably damaging Het
Ttc28 C T 5: 111,325,483 (GRCm39) probably benign Het
Vcan A T 13: 89,851,648 (GRCm39) M1104K possibly damaging Het
Vnn1 C T 10: 23,776,653 (GRCm39) Q335* probably null Het
Zic1 T C 9: 91,246,946 (GRCm39) D42G 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
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'- CTATGCAGCATCCGACAGTG -3'
(R):5'- TTTGTGCTTCACAGAGGCCAAC -3'

Sequencing Primer
(F):5'- TATGCCACAGTCCAGAGGC -3'
(R):5'- AACACGGTAGCTACTCGGC -3'
Posted On 2014-10-01