Incidental Mutation 'IGL01400:Cass4'
ID79612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cass4
Ensembl Gene ENSMUSG00000074570
Gene NameCas scaffolding protein family member 4
SynonymsF730031O20Rik
Accession Numbers

Ncbi RefSeq: NM_001033538.2, NM_001080820.1; MGI:2444482

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01400
Quality Score
Status
Chromosome2
Chromosomal Location172393794-172433757 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 172427300 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 434 (D434G)
Ref Sequence ENSEMBL: ENSMUSP00000104764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099061] [ENSMUST00000103073] [ENSMUST00000109136] [ENSMUST00000228775]
Predicted Effect probably damaging
Transcript: ENSMUST00000099061
AA Change: D434G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: D434G

DomainStartEndE-ValueType
SH3 14 72 5.65e-16 SMART
low complexity region 392 428 N/A INTRINSIC
Pfam:Serine_rich 433 591 4.2e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103073
AA Change: D434G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: D434G

DomainStartEndE-ValueType
SH3 14 72 5.65e-16 SMART
low complexity region 392 428 N/A INTRINSIC
Pfam:Serine_rich 433 591 7.5e-69 PFAM
Pfam:DUF3513 587 778 8.8e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109136
AA Change: D434G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: D434G

DomainStartEndE-ValueType
SH3 14 72 5.65e-16 SMART
low complexity region 392 428 N/A INTRINSIC
Pfam:Serine_rich 433 589 3.8e-58 PFAM
Pfam:DUF3513 593 803 1.6e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138288
Predicted Effect probably damaging
Transcript: ENSMUST00000228775
AA Change: D436G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,101 I133N probably damaging Het
Abl2 T G 1: 156,635,184 C510G probably damaging Het
Ambp T C 4: 63,152,722 Y40C probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arfgef3 G A 10: 18,652,706 A311V probably damaging Het
Cep250 A C 2: 155,998,291 T2390P possibly damaging Het
Cpm C A 10: 117,659,775 N56K probably benign Het
Cspp1 T C 1: 10,085,931 L455P probably damaging Het
Dcx T C X: 143,931,154 K51E possibly damaging Het
Ehd3 T C 17: 73,828,094 F322L probably benign Het
Ell A G 8: 70,578,913 D87G probably damaging Het
Epor C T 9: 21,959,439 probably null Het
Exosc10 T G 4: 148,565,271 M386R probably damaging Het
Gm1966 T A 7: 106,602,035 E667D probably benign Het
Gpr152 T C 19: 4,143,627 I389T probably benign Het
Kmo T A 1: 175,655,095 D328E possibly damaging Het
Llgl1 A G 11: 60,706,490 H255R probably damaging Het
Lrch3 T A 16: 32,979,541 H416Q probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mdm1 T G 10: 118,157,251 H320Q probably damaging Het
Nol4 T A 18: 22,823,498 H209L probably damaging Het
Olfr482 A T 7: 108,094,839 C244S probably damaging Het
Pcdhac2 T C 18: 37,146,286 V773A possibly damaging Het
Pde3a A G 6: 141,459,228 N393S probably benign Het
Pik3r5 A G 11: 68,494,547 K700R probably benign Het
Prob1 G A 18: 35,653,333 R623C possibly damaging Het
Slc14a2 T C 18: 78,192,213 N112D probably damaging Het
Snapc3 C T 4: 83,450,177 P304S probably damaging Het
Spin2c T A X: 153,833,625 W145R probably damaging Het
Tmem131l T C 3: 83,922,122 E1075G probably damaging Het
Trip12 C T 1: 84,751,978 R995Q probably damaging Het
Trpm6 T A 19: 18,825,794 L867* probably null Het
Vmn1r87 T G 7: 13,132,303 H19P probably damaging Het
Vps16 A G 2: 130,438,353 E139G possibly damaging Het
Other mutations in Cass4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cass4 APN 2 172416250 missense probably damaging 1.00
IGL00846:Cass4 APN 2 172429723 intron probably benign
IGL01985:Cass4 APN 2 172427206 missense probably damaging 1.00
IGL02268:Cass4 APN 2 172427042 missense possibly damaging 0.76
IGL02592:Cass4 APN 2 172416328 missense probably benign 0.00
R0030:Cass4 UTSW 2 172427842 nonsense probably null
R0035:Cass4 UTSW 2 172416492 missense probably damaging 1.00
R0039:Cass4 UTSW 2 172426980 missense probably damaging 1.00
R0631:Cass4 UTSW 2 172432411 missense probably damaging 1.00
R1321:Cass4 UTSW 2 172424652 missense probably benign 0.05
R1352:Cass4 UTSW 2 172416495 missense probably damaging 0.98
R1612:Cass4 UTSW 2 172427078 missense possibly damaging 0.46
R1720:Cass4 UTSW 2 172427734 missense probably damaging 0.99
R1776:Cass4 UTSW 2 172427695 missense probably benign
R1918:Cass4 UTSW 2 172427339 missense possibly damaging 0.69
R2257:Cass4 UTSW 2 172427470 missense probably damaging 1.00
R2257:Cass4 UTSW 2 172432558 missense probably damaging 1.00
R2262:Cass4 UTSW 2 172427254 missense probably damaging 1.00
R2924:Cass4 UTSW 2 172426672 missense possibly damaging 0.89
R3498:Cass4 UTSW 2 172432558 missense probably damaging 1.00
R3499:Cass4 UTSW 2 172432558 missense probably damaging 1.00
R3792:Cass4 UTSW 2 172432558 missense probably damaging 1.00
R3793:Cass4 UTSW 2 172432558 missense probably damaging 1.00
R3901:Cass4 UTSW 2 172432558 missense probably damaging 1.00
R4899:Cass4 UTSW 2 172427869 missense probably benign
R5161:Cass4 UTSW 2 172432324 missense probably damaging 1.00
R5534:Cass4 UTSW 2 172426768 missense probably benign 0.13
R5646:Cass4 UTSW 2 172416245 missense probably damaging 1.00
R5799:Cass4 UTSW 2 172416187 missense probably damaging 1.00
R5873:Cass4 UTSW 2 172426768 missense probably benign 0.13
R6084:Cass4 UTSW 2 172426912 missense probably benign 0.01
R6360:Cass4 UTSW 2 172432611 missense probably damaging 1.00
R6432:Cass4 UTSW 2 172427719 missense probably damaging 1.00
R7116:Cass4 UTSW 2 172427969 missense unknown
R7212:Cass4 UTSW 2 172427186 nonsense probably null
R7549:Cass4 UTSW 2 172426798 missense probably benign 0.01
R7549:Cass4 UTSW 2 172426799 missense probably benign 0.00
R7594:Cass4 UTSW 2 172429648 missense probably benign 0.03
R7659:Cass4 UTSW 2 172427027 missense probably damaging 1.00
R8003:Cass4 UTSW 2 172427959 missense unknown
R8270:Cass4 UTSW 2 172427669 missense probably damaging 1.00
R8296:Cass4 UTSW 2 172427174 missense probably benign 0.28
R8378:Cass4 UTSW 2 172427794 missense probably benign 0.05
Z1177:Cass4 UTSW 2 172427575 nonsense probably null
Posted On2013-11-05