Incidental Mutation 'R9683:Cass4'
ID 728669
Institutional Source Beutler Lab
Gene Symbol Cass4
Ensembl Gene ENSMUSG00000074570
Gene Name Cas scaffolding protein family member 4
Synonyms F730031O20Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 172235714-172275677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 172268656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 246 (P246L)
Ref Sequence ENSEMBL: ENSMUSP00000104764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099061] [ENSMUST00000103073] [ENSMUST00000109136] [ENSMUST00000228775]
AlphaFold Q08EC4
Predicted Effect probably damaging
Transcript: ENSMUST00000099061
AA Change: P246L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: P246L

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: P246L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: P246L

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: P246L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: P246L

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 damaging
Transcript: ENSMUST00000228775
AA Change: P248L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,200,095 (GRCm39) G499D probably benign Het
Acr T A 15: 89,457,440 (GRCm39) Y229* probably null Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Ahnak T C 19: 8,984,719 (GRCm39) V2001A possibly damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Anln A T 9: 22,283,536 (GRCm39) C432* probably null Het
Aox4 T C 1: 58,278,462 (GRCm39) probably null Het
Astn1 A G 1: 158,491,619 (GRCm39) I1007V possibly damaging Het
Bicral T C 17: 47,122,944 (GRCm39) D649G possibly damaging Het
C1qbp G A 11: 70,873,749 (GRCm39) R10C probably damaging Het
Celsr3 T A 9: 108,704,522 (GRCm39) V335E probably damaging Het
Cfap52 T A 11: 67,822,639 (GRCm39) T411S probably benign Het
Cnot6 A T 11: 49,580,164 (GRCm39) L43I possibly damaging Het
Col9a3 G A 2: 180,248,322 (GRCm39) probably null Het
Dnah14 A G 1: 181,426,509 (GRCm39) R210G probably benign Het
Fat4 A G 3: 38,943,332 (GRCm39) S742G possibly damaging Het
Fbn2 C T 18: 58,186,099 (GRCm39) V1750M probably benign Het
Glrx2 A G 1: 143,622,292 (GRCm39) D96G probably damaging Het
Gm8369 T C 19: 11,489,097 (GRCm39) L128P probably damaging Het
Gpr155 A G 2: 73,192,780 (GRCm39) I585T probably benign Het
Heatr1 T C 13: 12,449,140 (GRCm39) S1907P probably damaging Het
Hscb T C 5: 110,983,881 (GRCm39) T129A possibly damaging Het
Itgb5 T A 16: 33,740,335 (GRCm39) Y482N probably damaging Het
Kmt5b T A 19: 3,865,587 (GRCm39) *884R probably null Het
L3mbtl1 A T 2: 162,812,228 (GRCm39) T758S possibly damaging Het
Mindy1 A T 3: 95,202,176 (GRCm39) H351L probably benign Het
Mmel1 A T 4: 154,977,285 (GRCm39) I552F probably damaging Het
Mos T C 4: 3,871,186 (GRCm39) D210G probably benign Het
Npl A C 1: 153,421,030 (GRCm39) I16S possibly damaging Het
Nutm2 C A 13: 50,629,017 (GRCm39) P694T possibly damaging Het
Or1e1c G A 11: 73,265,811 (GRCm39) V82I probably damaging Het
Or52ae7 A G 7: 103,119,157 (GRCm39) probably benign Het
Plekhg4 T C 8: 106,102,923 (GRCm39) F261L probably benign Het
Ppfia3 T A 7: 45,005,999 (GRCm39) N331I probably benign Het
Ppp1r12a T A 10: 108,096,747 (GRCm39) S712R possibly damaging Het
Psg20 T A 7: 18,416,508 (GRCm39) K203* probably null Het
Recql C T 6: 142,305,646 (GRCm39) R234Q Het
Rerg A G 6: 137,033,252 (GRCm39) F160S probably damaging Het
Rp1l1 A G 14: 64,269,126 (GRCm39) K1571E probably damaging Het
Rsrc1 T A 3: 67,257,328 (GRCm39) S247T probably damaging Het
Sacs T A 14: 61,450,881 (GRCm39) I4309N possibly damaging Het
Setd7 A T 3: 51,450,111 (GRCm39) I105N possibly damaging Het
Sgk1 AAGA AAGAGA 10: 21,868,290 (GRCm39) probably null Het
Siglec1 T A 2: 130,921,236 (GRCm39) H645L probably damaging Het
Slain1 A T 14: 103,925,621 (GRCm39) D323V probably damaging Het
Slc25a10 A G 11: 120,386,312 (GRCm39) N139D probably damaging Het
Slc9a9 T G 9: 94,552,235 (GRCm39) F41V probably damaging Het
Spag9 A C 11: 93,988,568 (GRCm39) E879D probably damaging Het
Tdrd7 T A 4: 46,025,946 (GRCm39) L922Q probably damaging Het
Tiprl A G 1: 165,050,147 (GRCm39) F156S probably damaging Het
Tmem185b G C 1: 119,454,748 (GRCm39) V170L probably damaging Het
Top2a G A 11: 98,887,683 (GRCm39) T1275I probably benign Het
Tpp1 A G 7: 105,398,104 (GRCm39) L353P probably damaging Het
Twnk T A 19: 44,998,622 (GRCm39) H513Q probably damaging Het
Ubr5 C T 15: 37,978,271 (GRCm39) V2467I Het
Vmn2r16 T A 5: 109,511,677 (GRCm39) I628N probably damaging Het
Zan T C 5: 137,462,776 (GRCm39) E801G unknown Het
Zfp810 T C 9: 22,189,799 (GRCm39) R370G possibly damaging Het
Zfp955a A G 17: 33,461,587 (GRCm39) S182P probably benign Het
Znrf3 T C 11: 5,394,465 (GRCm39) T72A 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
IGL02592:Cass4 APN 2 172,258,248 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGTCAAGGGTCTGTCGGAC -3'
(R):5'- AACCTGGAAGGGACCTTGTAGC -3'

Sequencing Primer
(F):5'- GGACTCTCGTTTGGTTGTTACTAACC -3'
(R):5'- AAGGGACCTTGTAGCTGCCAC -3'
Posted On 2022-10-06