Incidental Mutation 'IGL02592:Cass4'
ID 299772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cass4
Ensembl Gene ENSMUSG00000074570
Gene Name Cas scaffolding protein family member 4
Synonyms F730031O20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02592
Quality Score
Status
Chromosome 2
Chromosomal Location 172235714-172275677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172258248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 82 (L82P)
Ref Sequence ENSEMBL: ENSMUSP00000154073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099061] [ENSMUST00000103073] [ENSMUST00000109136] [ENSMUST00000228775]
AlphaFold Q08EC4
Predicted Effect probably benign
Transcript: ENSMUST00000099061
AA Change: L82P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: L82P

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 benign
Transcript: ENSMUST00000103073
AA Change: L82P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: L82P

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 benign
Transcript: ENSMUST00000109136
AA Change: L82P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: L82P

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 probably benign
Transcript: ENSMUST00000228775
AA Change: L82P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps G A 14: 12,473,465 (GRCm38) R899C probably damaging Het
Cd53 C A 3: 106,670,601 (GRCm39) C144F probably damaging Het
Fancc G A 13: 63,508,011 (GRCm39) R175W probably damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gpr149 T C 3: 62,511,231 (GRCm39) D256G possibly damaging Het
Kdm5b T A 1: 134,552,591 (GRCm39) M1189K probably damaging Het
Lvrn T A 18: 46,983,658 (GRCm39) C134S probably damaging Het
Mroh8 A T 2: 157,058,889 (GRCm39) Y926N probably damaging Het
Nfxl1 A G 5: 72,671,572 (GRCm39) S896P probably benign Het
Orc4 A T 2: 48,823,090 (GRCm39) probably null Het
Pcsk6 T A 7: 65,618,776 (GRCm39) H447Q probably damaging Het
Rfx6 C A 10: 51,592,119 (GRCm39) Q121K probably damaging Het
Rnase6 T C 14: 51,367,982 (GRCm39) Y125H probably benign Het
Sbno1 A T 5: 124,538,872 (GRCm39) Y494N probably damaging Het
Sppl3 G A 5: 115,233,970 (GRCm39) V347M probably damaging Het
Tlr12 G A 4: 128,511,479 (GRCm39) T257M probably benign Het
Tmem132e A T 11: 82,325,462 (GRCm39) D154V probably damaging Het
Zfp345 A G 2: 150,315,229 (GRCm39) Y103H probably benign Het
Zfp947 T A 17: 22,365,233 (GRCm39) Q147L possibly damaging Het
Other mutations in Cass4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cass4 APN 2 172,258,170 (GRCm39) missense probably damaging 1.00
IGL00846:Cass4 APN 2 172,271,643 (GRCm39) intron probably benign
IGL01400:Cass4 APN 2 172,269,220 (GRCm39) missense probably damaging 1.00
IGL01985:Cass4 APN 2 172,269,126 (GRCm39) missense probably damaging 1.00
IGL02268:Cass4 APN 2 172,268,962 (GRCm39) missense possibly damaging 0.76
R0030:Cass4 UTSW 2 172,269,762 (GRCm39) nonsense probably null
R0035:Cass4 UTSW 2 172,258,412 (GRCm39) missense probably damaging 1.00
R0039:Cass4 UTSW 2 172,268,900 (GRCm39) missense probably damaging 1.00
R0631:Cass4 UTSW 2 172,274,331 (GRCm39) missense probably damaging 1.00
R1321:Cass4 UTSW 2 172,266,572 (GRCm39) missense probably benign 0.05
R1352:Cass4 UTSW 2 172,258,415 (GRCm39) missense probably damaging 0.98
R1612:Cass4 UTSW 2 172,268,998 (GRCm39) missense possibly damaging 0.46
R1720:Cass4 UTSW 2 172,269,654 (GRCm39) missense probably damaging 0.99
R1776:Cass4 UTSW 2 172,269,615 (GRCm39) missense probably benign
R1918:Cass4 UTSW 2 172,269,259 (GRCm39) missense possibly damaging 0.69
R2257:Cass4 UTSW 2 172,274,478 (GRCm39) missense probably damaging 1.00
R2257:Cass4 UTSW 2 172,269,390 (GRCm39) missense probably damaging 1.00
R2262:Cass4 UTSW 2 172,269,174 (GRCm39) missense probably damaging 1.00
R2924:Cass4 UTSW 2 172,268,592 (GRCm39) missense possibly damaging 0.89
R3498:Cass4 UTSW 2 172,274,478 (GRCm39) missense probably damaging 1.00
R3499:Cass4 UTSW 2 172,274,478 (GRCm39) missense probably damaging 1.00
R3792:Cass4 UTSW 2 172,274,478 (GRCm39) missense probably damaging 1.00
R3793:Cass4 UTSW 2 172,274,478 (GRCm39) missense probably damaging 1.00
R3901:Cass4 UTSW 2 172,274,478 (GRCm39) missense probably damaging 1.00
R4899:Cass4 UTSW 2 172,269,789 (GRCm39) missense probably benign
R5161:Cass4 UTSW 2 172,274,244 (GRCm39) missense probably damaging 1.00
R5534:Cass4 UTSW 2 172,268,688 (GRCm39) missense probably benign 0.13
R5646:Cass4 UTSW 2 172,258,165 (GRCm39) missense probably damaging 1.00
R5799:Cass4 UTSW 2 172,258,107 (GRCm39) missense probably damaging 1.00
R5873:Cass4 UTSW 2 172,268,688 (GRCm39) missense probably benign 0.13
R6084:Cass4 UTSW 2 172,268,832 (GRCm39) missense probably benign 0.01
R6360:Cass4 UTSW 2 172,274,531 (GRCm39) missense probably damaging 1.00
R6432:Cass4 UTSW 2 172,269,639 (GRCm39) missense probably damaging 1.00
R7116:Cass4 UTSW 2 172,269,889 (GRCm39) missense unknown
R7212:Cass4 UTSW 2 172,269,106 (GRCm39) nonsense probably null
R7549:Cass4 UTSW 2 172,268,719 (GRCm39) missense probably benign 0.00
R7549:Cass4 UTSW 2 172,268,718 (GRCm39) missense probably benign 0.01
R7594:Cass4 UTSW 2 172,271,568 (GRCm39) missense probably benign 0.03
R7659:Cass4 UTSW 2 172,268,947 (GRCm39) missense probably damaging 1.00
R8003:Cass4 UTSW 2 172,269,879 (GRCm39) missense unknown
R8270:Cass4 UTSW 2 172,269,589 (GRCm39) missense probably damaging 1.00
R8296:Cass4 UTSW 2 172,269,094 (GRCm39) missense probably benign 0.28
R8378:Cass4 UTSW 2 172,269,714 (GRCm39) missense probably benign 0.05
R9332:Cass4 UTSW 2 172,269,806 (GRCm39) missense probably benign
R9340:Cass4 UTSW 2 172,268,686 (GRCm39) missense possibly damaging 0.82
R9485:Cass4 UTSW 2 172,269,805 (GRCm39) missense probably benign
R9522:Cass4 UTSW 2 172,269,348 (GRCm39) missense possibly damaging 0.46
R9683:Cass4 UTSW 2 172,268,656 (GRCm39) missense probably damaging 1.00
R9720:Cass4 UTSW 2 172,269,568 (GRCm39) missense probably benign
R9784:Cass4 UTSW 2 172,269,753 (GRCm39) missense probably benign 0.08
Z1177:Cass4 UTSW 2 172,269,495 (GRCm39) nonsense probably null
Posted On 2015-04-16