Incidental Mutation 'R5877:Caskin1'
ID 501976
Institutional Source Beutler Lab
Gene Symbol Caskin1
Ensembl Gene ENSMUSG00000033597
Gene Name CASK interacting protein 1
Synonyms 3300002N10Rik, C630036E02Rik
MMRRC Submission 044083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5877 (G1)
Quality Score 68
Status Validated
Chromosome 17
Chromosomal Location 24707575-24727645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24724239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1009 (M1009T)
Ref Sequence ENSEMBL: ENSMUSP00000024958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176353] [ENSMUST00000176668] [ENSMUST00000176652]
AlphaFold Q6P9K8
Predicted Effect possibly damaging
Transcript: ENSMUST00000024958
AA Change: M1009T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: M1009T

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 noncoding transcript
Transcript: ENSMUST00000176530
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177024
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
Meta Mutation Damage Score 0.1646 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,822 (GRCm39) H213L probably damaging Het
Alk A G 17: 72,274,521 (GRCm39) W597R probably damaging Het
Ark2n G T 18: 77,730,902 (GRCm39) probably null Het
Ash1l G A 3: 88,888,891 (GRCm39) V257I probably benign Het
Atp9b C T 18: 80,796,004 (GRCm39) V957I probably benign Het
Birc2 A C 9: 7,849,347 (GRCm39) C576G probably damaging Het
Brca2 T C 5: 150,466,686 (GRCm39) M2150T possibly damaging Het
C3ar1 T G 6: 122,827,581 (GRCm39) D212A probably benign Het
Cacna1s T C 1: 136,028,405 (GRCm39) F914S probably damaging Het
Camk1d T C 2: 5,570,476 (GRCm39) I62V probably benign Het
Casp2 A G 6: 42,253,571 (GRCm39) probably benign Het
Cd2bp2 T A 7: 126,793,971 (GRCm39) Y106F probably damaging Het
Celsr3 G A 9: 108,722,926 (GRCm39) C2763Y probably damaging Het
Cyp2g1 T G 7: 26,516,065 (GRCm39) L310V possibly damaging Het
Dusp22 G A 13: 30,891,944 (GRCm39) V99M probably damaging Het
Elp1 A T 4: 56,787,807 (GRCm39) W375R probably damaging Het
Fam131b G A 6: 42,297,913 (GRCm39) S92L probably benign Het
Fbxw10 A T 11: 62,748,542 (GRCm39) N390Y probably damaging Het
Flg2 A T 3: 93,110,756 (GRCm39) H928L unknown Het
Gapdhs T C 7: 30,431,772 (GRCm39) T280A probably damaging Het
Hdac11 A G 6: 91,134,524 (GRCm39) K50E probably damaging Het
Hif3a G T 7: 16,785,071 (GRCm39) A181E probably damaging Het
Itgb8 A G 12: 119,166,271 (GRCm39) S87P probably benign Het
Klhl12 T A 1: 134,411,558 (GRCm39) Y302* probably null Het
Lhx1 C A 11: 84,413,065 (GRCm39) D30Y probably damaging Het
Mrpl40 A G 16: 18,691,135 (GRCm39) Y148H probably damaging Het
Myh13 A T 11: 67,244,484 (GRCm39) H1007L possibly damaging Het
Nhlrc2 T C 19: 56,559,016 (GRCm39) I167T probably damaging Het
Nxpe3 A T 16: 55,686,564 (GRCm39) I148K probably damaging Het
Odf2l A G 3: 144,834,771 (GRCm39) probably null Het
Otud7b C T 3: 96,059,277 (GRCm39) R347* probably null Het
P3h4 G T 11: 100,304,843 (GRCm39) H181Q probably benign Het
P4htm T A 9: 108,460,932 (GRCm39) Y180F possibly damaging Het
Pcna-ps2 A G 19: 9,261,463 (GRCm39) I241V probably benign Het
Pcnx2 T C 8: 126,480,467 (GRCm39) S1947G probably damaging Het
Piezo2 T C 18: 63,247,005 (GRCm39) I336V probably benign Het
Plcd1 T C 9: 118,905,240 (GRCm39) D157G probably damaging Het
Plekhm2 A C 4: 141,367,004 (GRCm39) I212S probably damaging Het
Pmvk G T 3: 89,371,676 (GRCm39) C57F probably benign Het
Pole T C 5: 110,480,329 (GRCm39) S91P probably benign Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Ppp4r3b A T 11: 29,159,356 (GRCm39) D570V probably damaging Het
Pxdn T A 12: 30,053,045 (GRCm39) I1074N probably damaging Het
Ralgapa2 A T 2: 146,230,489 (GRCm39) D1025E probably damaging Het
Ralgps1 A G 2: 33,133,640 (GRCm39) probably benign Het
Rasal1 C T 5: 120,817,135 (GRCm39) probably benign Het
Rps2 A T 17: 24,939,890 (GRCm39) probably benign Het
Scn7a G C 2: 66,530,217 (GRCm39) Y709* probably null Het
Skint1 T A 4: 111,878,720 (GRCm39) C217* probably null Het
Slc50a1 T C 3: 89,176,460 (GRCm39) Y82C probably damaging Het
Slc9a4 T C 1: 40,651,423 (GRCm39) V567A probably benign Het
Snx27 A T 3: 94,410,270 (GRCm39) W469R probably damaging Het
Sos2 A G 12: 69,643,569 (GRCm39) L937P probably damaging Het
Ssh1 T C 5: 114,081,181 (GRCm39) T728A probably benign Het
Tnfrsf8 G A 4: 145,019,257 (GRCm39) R193C probably benign Het
Tut4 T C 4: 108,370,120 (GRCm39) V673A probably damaging Het
Usp33 T A 3: 152,085,113 (GRCm39) M583K possibly damaging Het
Usp33 G A 3: 152,085,233 (GRCm39) C623Y probably damaging Het
Wdfy3 T C 5: 102,017,855 (GRCm39) I2562V probably damaging Het
Wnk2 T C 13: 49,220,782 (GRCm39) D1175G probably damaging Het
Zfp341 G A 2: 154,474,209 (GRCm39) E338K probably damaging Het
Zfp398 A G 6: 47,817,638 (GRCm39) probably benign Het
Zp2 T A 7: 119,732,562 (GRCm39) K661N 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
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
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'- AGTCAGTCCTTTGCTGTGCG -3'
(R):5'- CTCCATAAAATGACTCTGCTCTG -3'

Sequencing Primer
(F):5'- CTGTGCGGCCACGTAAGAAG -3'
(R):5'- TGACTGGGCCACTGAGTGTAC -3'
Posted On 2018-02-08