Incidental Mutation 'R8749:Caskin1'
ID 663735
Institutional Source Beutler Lab
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
MMRRC Submission 068592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R8749 (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 T at 24723774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 854 (A854V)
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: A854V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: A854V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 C T 13: 4,320,155 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,664,725 (GRCm39) M888K unknown Het
Arhgap23 T A 11: 97,391,641 (GRCm39) V223E probably damaging Het
Atm C T 9: 53,410,497 (GRCm39) W1028* probably null Het
Atp7b A G 8: 22,518,334 (GRCm39) V168A probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Cdcp1 T C 9: 123,019,027 (GRCm39) N84S probably benign Het
Cdh20 T A 1: 110,027,009 (GRCm39) I475N probably damaging Het
Ciz1 A T 2: 32,255,848 (GRCm39) Y107F probably benign Het
Creb3l4 T C 3: 90,145,199 (GRCm39) N318D probably benign Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dmxl1 A T 18: 50,088,937 (GRCm39) K2805N probably damaging Het
Dusp15 T A 2: 152,788,209 (GRCm39) I63F probably damaging Het
Dync2h1 T C 9: 7,035,063 (GRCm39) Q3462R probably benign Het
Evpl A G 11: 116,120,232 (GRCm39) C569R probably benign Het
Fmnl3 A T 15: 99,219,322 (GRCm39) M766K possibly damaging Het
G6pc2 A G 2: 69,057,140 (GRCm39) N262S probably damaging Het
Galk1 A T 11: 115,899,762 (GRCm39) L325Q probably damaging Het
H3c3 T C 13: 23,929,108 (GRCm39) I125V probably benign Het
Hr G A 14: 70,795,510 (GRCm39) G352R probably damaging Het
Il12b A T 11: 44,294,864 (GRCm39) M1L not run Het
Lpar6 A T 14: 73,476,950 (GRCm39) M304L probably benign Het
Mpeg1 G A 19: 12,439,291 (GRCm39) A250T probably benign Het
Mtcl3 T C 10: 29,072,721 (GRCm39) I671T possibly damaging Het
Neb T C 2: 52,180,863 (GRCm39) K1221R probably benign Het
Ogfrl1 T A 1: 23,409,399 (GRCm39) I276F probably damaging Het
Or4f62 A G 2: 111,986,869 (GRCm39) D191G possibly damaging Het
Or4k37 T C 2: 111,158,817 (GRCm39) C18R possibly damaging Het
Or4x12-ps1 T C 2: 89,916,631 (GRCm39) Y58C probably damaging Het
Oxr1 A G 15: 41,574,260 (GRCm39) N2S probably benign Het
P3h3 G A 6: 124,822,940 (GRCm39) R505C probably damaging Het
Pcdhb16 A T 18: 37,612,392 (GRCm39) I451F possibly damaging Het
Pet117 C A 2: 144,215,122 (GRCm39) D36E probably benign Het
Prf1 T C 10: 61,138,948 (GRCm39) V302A probably damaging Het
Prkdc G A 16: 15,601,029 (GRCm39) A2897T possibly damaging Het
Prkra A G 2: 76,460,879 (GRCm39) L273P probably damaging Het
Prr30 T A 14: 101,436,365 (GRCm39) T66S probably benign Het
Slc29a4 A G 5: 142,700,819 (GRCm39) Y188C probably damaging Het
Spink5 A T 18: 44,122,425 (GRCm39) K297* probably null Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tmem100 G A 11: 89,926,574 (GRCm39) A134T probably damaging Het
Tmem132c A G 5: 127,437,003 (GRCm39) D164G possibly damaging Het
Tnfsf18 A G 1: 161,331,047 (GRCm39) T66A possibly damaging Het
Ubr4 C T 4: 139,129,935 (GRCm39) T685I probably damaging Het
Uck1 T C 2: 32,146,524 (GRCm39) Y185C Het
Umod T A 7: 119,070,639 (GRCm39) I418F probably benign Het
Upp1 A T 11: 9,079,561 (GRCm39) S41C probably damaging Het
Vmn1r168 A T 7: 23,240,428 (GRCm39) Y95F probably benign Het
Vmn1r180 G T 7: 23,652,415 (GRCm39) D193Y probably damaging Het
Vmn2r11 A G 5: 109,195,319 (GRCm39) V669A probably damaging Het
Vmn2r55 T A 7: 12,385,796 (GRCm39) Y728F probably damaging Het
Vmn2r78 A G 7: 86,603,513 (GRCm39) T564A possibly damaging Het
Vps13d T A 4: 144,865,183 (GRCm39) N2057I Het
Wdfy3 C T 5: 102,030,446 (GRCm39) R2354Q probably damaging Het
Wdr77 T A 3: 105,866,975 (GRCm39) C26S probably damaging Het
Yif1b C T 7: 28,946,690 (GRCm39) A267V probably benign Het
Zfp316 A G 5: 143,248,565 (GRCm39) V227A unknown Het
Zfp600 T A 4: 146,133,151 (GRCm39) H606Q unknown Het
Zfp804a T C 2: 82,087,919 (GRCm39) W583R probably benign Het
Zfp961 T C 8: 72,719,686 (GRCm39) W39R probably damaging Het
Zfp990 T A 4: 145,264,156 (GRCm39) C385S probably 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
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
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'- GAATACCTGCTGGATGAGGG -3'
(R):5'- GGTTAACATTCTTGTCCGTGC -3'

Sequencing Primer
(F):5'- ATGGCCACAGCGTCAAG -3'
(R):5'- AGCAGGAGCCCTCACTGAATG -3'
Posted On 2021-03-08