Incidental Mutation 'R6519:Casc4'
ID520950
Institutional Source Beutler Lab
Gene Symbol Casc4
Ensembl Gene ENSMUSG00000060227
Gene Namecancer susceptibility candidate 4
SynonymsD130060C09Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6519 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location121866970-121936220 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121906737 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 141 (V141A)
Ref Sequence ENSEMBL: ENSMUSP00000117883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078752] [ENSMUST00000089912] [ENSMUST00000089915] [ENSMUST00000110586] [ENSMUST00000136023]
Predicted Effect probably benign
Transcript: ENSMUST00000078752
AA Change: V253A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: V253A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
low complexity region 400 418 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089912
AA Change: V253A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: V253A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
low complexity region 367 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089915
AA Change: V253A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: V253A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110586
AA Change: V253A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: V253A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
coiled coil region 37 195 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135416
Predicted Effect probably benign
Transcript: ENSMUST00000136023
AA Change: V141A

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227
AA Change: V141A

DomainStartEndE-ValueType
coiled coil region 2 83 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,613,670 I53T probably damaging Het
Adgrv1 C T 13: 81,567,343 D909N probably benign Het
Ahdc1 T C 4: 133,064,768 Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 V49E probably damaging Het
Apol6 T A 15: 77,051,276 Y248* probably null Het
Apol7b T A 15: 77,423,348 T316S probably benign Het
Atp13a2 G C 4: 141,000,854 R503P possibly damaging Het
BC037034 A G 5: 138,261,848 S344P probably damaging Het
Brca2 A C 5: 150,540,979 T1403P probably damaging Het
Cblc T C 7: 19,792,863 Y148C probably damaging Het
Cct7 C A 6: 85,462,150 Q149K probably benign Het
Cd53 T A 3: 106,762,145 H179L probably benign Het
Cyp2b19 A G 7: 26,759,111 T84A probably benign Het
Cyp3a41a A G 5: 145,715,498 C64R probably damaging Het
Dclre1c T C 2: 3,429,329 Y75H probably damaging Het
Dhx35 A T 2: 158,831,710 I354F probably damaging Het
Diaph3 T C 14: 86,966,335 N629S probably damaging Het
Dnase1 A T 16: 4,038,589 S132C probably damaging Het
Dnttip2 T C 3: 122,275,471 S112P probably benign Het
Eif4g3 C A 4: 137,994,008 P48T probably benign Het
Fat4 A T 3: 39,002,871 T4239S probably benign Het
Fbn2 A G 18: 58,063,575 V1419A possibly damaging Het
Ghitm A C 14: 37,125,247 M290R probably damaging Het
Glb1l T C 1: 75,201,056 D406G probably benign Het
Glipr1l1 C A 10: 112,062,248 A86D probably benign Het
Grm7 C T 6: 111,207,752 A348V probably benign Het
Gtf2h3 C T 5: 124,584,297 T121I probably benign Het
Hdac2 T A 10: 36,989,256 N155K probably damaging Het
Hus1b A G 13: 30,946,947 I243T probably benign Het
Kcnab2 T C 4: 152,411,993 T65A probably damaging Het
Lasp1 T A 11: 97,815,557 probably null Het
Lrch3 G A 16: 32,994,997 probably benign Het
Ltb4r2 C T 14: 55,762,981 T353M probably benign Het
Macf1 A G 4: 123,472,325 M1316T probably benign Het
Msr1 G A 8: 39,624,221 T116I probably benign Het
Nlrp5 A G 7: 23,417,918 I356V probably benign Het
Npy C T 6: 49,823,689 S31F possibly damaging Het
Nsd3 C T 8: 25,662,939 P432S probably damaging Het
Nup160 A C 2: 90,718,217 R1037S probably damaging Het
Olfr284 C T 15: 98,340,048 G314R probably benign Het
Olfr32 A T 2: 90,138,812 I109N possibly damaging Het
Olfr533 T A 7: 140,466,545 S115T probably benign Het
Pcx A G 19: 4,602,211 E108G possibly damaging Het
Pecam1 A T 11: 106,699,642 M102K probably benign Het
Pgd G T 4: 149,150,886 Y433* probably null Het
Pkd1l3 A G 8: 109,628,772 E744G probably benign Het
Rb1 A G 14: 73,298,063 I118T probably benign Het
Rdh11 T A 12: 79,182,815 H228L probably damaging Het
Rnf44 C T 13: 54,681,786 R340Q probably damaging Het
Rtraf A G 14: 19,819,930 V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 T185A possibly damaging Het
Thsd1 A G 8: 22,259,065 R590G probably damaging Het
Trbv19 T C 6: 41,178,639 probably benign Het
Txnrd3 T C 6: 89,654,423 probably null Het
Wwc1 C T 11: 35,853,437 E853K probably benign Het
Xpnpep1 T C 19: 53,011,844 N192D possibly damaging Het
Zfp955b T A 17: 33,302,077 S173R possibly damaging Het
Zranb1 T A 7: 132,950,128 C195* probably null Het
Other mutations in Casc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Casc4 APN 2 121910793 splice site probably benign
IGL01020:Casc4 APN 2 121925722 missense probably benign 0.06
IGL01794:Casc4 APN 2 121911926 missense probably benign 0.36
IGL02429:Casc4 APN 2 121911987 missense probably benign 0.00
R0126:Casc4 UTSW 2 121906084 splice site probably benign
R0709:Casc4 UTSW 2 121867425 missense probably damaging 1.00
R2182:Casc4 UTSW 2 121867428 missense probably damaging 1.00
R4771:Casc4 UTSW 2 121925645 missense probably damaging 1.00
R5533:Casc4 UTSW 2 121925697 intron probably benign
R5817:Casc4 UTSW 2 121906044 missense probably benign 0.30
R6598:Casc4 UTSW 2 121933485 missense probably damaging 1.00
R6598:Casc4 UTSW 2 121933486 missense probably damaging 1.00
R7799:Casc4 UTSW 2 121933541 missense probably benign 0.01
R8009:Casc4 UTSW 2 121906761 missense probably benign 0.00
R8359:Casc4 UTSW 2 121867151 start gained probably benign
R8360:Casc4 UTSW 2 121867151 start gained probably benign
Predicted Primers PCR Primer
(F):5'- CAGGCACATACACGCTGAAG -3'
(R):5'- CTGGCAATTAATGAGCTGCAC -3'

Sequencing Primer
(F):5'- CATACACGCTGAAGAAAGTACG -3'
(R):5'- GCTCCTGTCACTTAGAAAGCTGAG -3'
Posted On2018-06-06