Incidental Mutation 'R3958:Ckap4'
ID 310813
Institutional Source Beutler Lab
Gene Symbol Ckap4
Ensembl Gene ENSMUSG00000046841
Gene Name cytoskeleton-associated protein 4
Synonyms P63, CLIMP-63, 5630400A09Rik
MMRRC Submission 040834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R3958 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 84362169-84369752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84364028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 345 (R345H)
Ref Sequence ENSEMBL: ENSMUSP00000130304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053871] [ENSMUST00000167671]
AlphaFold Q8BMK4
Predicted Effect probably benign
Transcript: ENSMUST00000053871
AA Change: R345H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: R345H

DomainStartEndE-ValueType
low complexity region 36 59 N/A INTRINSIC
low complexity region 64 82 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
internal_repeat_1 191 233 1.28e-5 PROSPERO
internal_repeat_1 269 311 1.28e-5 PROSPERO
coiled coil region 338 362 N/A INTRINSIC
coiled coil region 408 438 N/A INTRINSIC
low complexity region 476 489 N/A INTRINSIC
coiled coil region 537 575 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167671
AA Change: R345H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: R345H

DomainStartEndE-ValueType
low complexity region 36 59 N/A INTRINSIC
low complexity region 64 82 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
internal_repeat_1 191 233 1.28e-5 PROSPERO
internal_repeat_1 269 311 1.28e-5 PROSPERO
coiled coil region 338 362 N/A INTRINSIC
coiled coil region 408 438 N/A INTRINSIC
low complexity region 476 489 N/A INTRINSIC
coiled coil region 537 575 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215920
Meta Mutation Damage Score 0.0717 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,652,738 (GRCm39) K266R probably benign Het
Cebpd T C 16: 15,705,327 (GRCm39) S47P possibly damaging Het
Celf4 A G 18: 25,670,811 (GRCm39) M124T probably benign Het
Clasp1 T C 1: 118,395,611 (GRCm39) V183A probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etl4 A G 2: 20,344,854 (GRCm39) T53A probably benign Het
Glyat A T 19: 12,617,197 (GRCm39) K16N probably benign Het
Gm6522 T C 3: 106,206,120 (GRCm39) noncoding transcript Het
Grin1 G A 2: 25,203,465 (GRCm39) T182M probably damaging Het
Hcn4 T C 9: 58,751,331 (GRCm39) V319A unknown Het
Hmgcs2 T C 3: 98,204,793 (GRCm39) F317S possibly damaging Het
Hoxd8 C T 2: 74,536,884 (GRCm39) Q18* probably null Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Kmt2d G A 15: 98,753,430 (GRCm39) T141M possibly damaging Het
Lrp1 A G 10: 127,407,827 (GRCm39) S1821P probably benign Het
Neb T C 2: 52,153,641 (GRCm39) E2428G probably damaging Het
Nepn T C 10: 52,276,804 (GRCm39) V119A probably benign Het
Or4k41 G T 2: 111,280,230 (GRCm39) L248F possibly damaging Het
Otogl T C 10: 107,657,786 (GRCm39) D1048G probably damaging Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Ppp6r3 A T 19: 3,546,583 (GRCm39) V305D probably damaging Het
Prkg2 G T 5: 99,145,354 (GRCm39) T160K possibly damaging Het
Prmt8 G A 6: 127,709,707 (GRCm39) T51I probably benign Het
Rgl3 T C 9: 21,886,885 (GRCm39) probably benign Het
Sec23ip C G 7: 128,378,574 (GRCm39) T796S probably benign Het
Selp T C 1: 163,953,855 (GRCm39) S52P probably benign Het
Slc44a2 T C 9: 21,259,837 (GRCm39) I615T probably damaging Het
Snap91 T C 9: 86,720,183 (GRCm39) Y118C probably damaging Het
Tmem106b A T 6: 13,081,587 (GRCm39) N165Y probably damaging Het
Ucp3 A G 7: 100,131,946 (GRCm39) T266A probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Utrn T C 10: 12,625,852 (GRCm39) I110V probably damaging Het
Other mutations in Ckap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02591:Ckap4 APN 10 84,364,454 (GRCm39) missense probably damaging 1.00
IGL03251:Ckap4 APN 10 84,364,469 (GRCm39) missense probably damaging 1.00
PIT1430001:Ckap4 UTSW 10 84,363,630 (GRCm39) missense probably damaging 0.99
R0866:Ckap4 UTSW 10 84,363,384 (GRCm39) missense probably damaging 1.00
R1462:Ckap4 UTSW 10 84,363,431 (GRCm39) missense probably damaging 1.00
R1462:Ckap4 UTSW 10 84,363,431 (GRCm39) missense probably damaging 1.00
R1734:Ckap4 UTSW 10 84,363,738 (GRCm39) missense probably benign
R2113:Ckap4 UTSW 10 84,369,387 (GRCm39) missense possibly damaging 0.79
R3723:Ckap4 UTSW 10 84,364,256 (GRCm39) missense probably damaging 1.00
R4735:Ckap4 UTSW 10 84,369,384 (GRCm39) missense possibly damaging 0.69
R4746:Ckap4 UTSW 10 84,369,384 (GRCm39) missense possibly damaging 0.69
R4857:Ckap4 UTSW 10 84,369,352 (GRCm39) missense possibly damaging 0.73
R5308:Ckap4 UTSW 10 84,364,238 (GRCm39) missense probably benign 0.01
R5333:Ckap4 UTSW 10 84,363,474 (GRCm39) missense probably damaging 1.00
R5848:Ckap4 UTSW 10 84,369,354 (GRCm39) missense probably benign 0.02
R7383:Ckap4 UTSW 10 84,364,148 (GRCm39) missense probably damaging 1.00
R7402:Ckap4 UTSW 10 84,363,863 (GRCm39) missense probably damaging 0.99
R7453:Ckap4 UTSW 10 84,364,463 (GRCm39) missense probably damaging 1.00
R7757:Ckap4 UTSW 10 84,364,331 (GRCm39) missense probably damaging 1.00
R7966:Ckap4 UTSW 10 84,363,449 (GRCm39) missense probably damaging 1.00
R8098:Ckap4 UTSW 10 84,369,499 (GRCm39) missense probably damaging 0.96
R8337:Ckap4 UTSW 10 84,364,460 (GRCm39) missense probably damaging 1.00
R8932:Ckap4 UTSW 10 84,364,290 (GRCm39) missense probably benign 0.29
R9099:Ckap4 UTSW 10 84,369,402 (GRCm39) missense probably damaging 0.99
R9115:Ckap4 UTSW 10 84,363,507 (GRCm39) missense probably damaging 1.00
R9193:Ckap4 UTSW 10 84,363,350 (GRCm39) missense probably damaging 1.00
R9432:Ckap4 UTSW 10 84,363,543 (GRCm39) missense probably damaging 1.00
R9462:Ckap4 UTSW 10 84,363,924 (GRCm39) missense possibly damaging 0.92
R9592:Ckap4 UTSW 10 84,364,175 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGAGTAGACCCCGTCCTC -3'
(R):5'- AAAACTCTGAAGGACGCCG -3'

Sequencing Primer
(F):5'- TCTACATACTGGAGCCTGGCAC -3'
(R):5'- AGGCCTCCATGATGTCGAG -3'
Posted On 2015-04-29