Incidental Mutation 'R9522:Cass4'
ID 718933
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 # R9522 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 172235714-172275677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172269348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 477 (I477V)
Ref Sequence ENSEMBL: ENSMUSP00000104764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099061] [ENSMUST00000103073] [ENSMUST00000109136] [ENSMUST00000228775]
AlphaFold Q08EC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000099061
AA Change: I477V

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096660
Gene: ENSMUSG00000074570
AA Change: I477V

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 possibly damaging
Transcript: ENSMUST00000103073
AA Change: I477V

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099362
Gene: ENSMUSG00000074570
AA Change: I477V

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 possibly damaging
Transcript: ENSMUST00000109136
AA Change: I477V

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104764
Gene: ENSMUSG00000074570
AA Change: I477V

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 possibly damaging
Transcript: ENSMUST00000228775
AA Change: I479V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,847,368 (GRCm39) Y744F probably null Het
Adam17 C A 12: 21,395,693 (GRCm39) V277F probably damaging Het
Adcy8 C T 15: 64,792,560 (GRCm39) C132Y probably damaging Het
Adgrf3 G A 5: 30,404,482 (GRCm39) P318L possibly damaging Het
Ahcyl1 A T 3: 107,579,398 (GRCm39) I212N probably damaging Het
Allc A T 12: 28,620,653 (GRCm39) F33I probably damaging Het
Arhgap32 A G 9: 32,027,450 (GRCm39) T7A probably benign Het
Bbs4 A G 9: 59,260,691 (GRCm39) probably null Het
Btbd1 G T 7: 81,479,081 (GRCm39) P20H unknown Het
Cep83 A G 10: 94,586,184 (GRCm39) E362G probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cimip2c A T 5: 30,623,467 (GRCm39) S5C probably damaging Het
Cntnap5b A G 1: 100,412,347 (GRCm39) D896G probably benign Het
Crocc2 T C 1: 93,117,429 (GRCm39) V305A probably benign Het
Cse1l G A 2: 166,776,673 (GRCm39) V495I probably benign Het
Ctsj A T 13: 61,152,257 (GRCm39) Y36* probably null Het
Ctss T G 3: 95,454,109 (GRCm39) D220E probably benign Het
Ctu1 T C 7: 43,324,900 (GRCm39) L113P probably benign Het
Cyp2d40 G A 15: 82,648,274 (GRCm39) A13V possibly damaging Het
Dhrs4 A T 14: 55,716,219 (GRCm39) probably benign Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dpysl5 C A 5: 30,935,399 (GRCm39) Y167* probably null Het
E4f1 C T 17: 24,666,096 (GRCm39) G234D probably damaging Het
Eif3g G T 9: 20,809,451 (GRCm39) T27N probably benign Het
Eif3g T A 9: 20,809,452 (GRCm39) T27S probably benign Het
Fcrl2 A G 3: 87,164,101 (GRCm39) F343L possibly damaging Het
Fdft1 T C 14: 63,396,597 (GRCm39) probably null Het
Hsd3b9 T C 3: 98,353,783 (GRCm39) S239G probably benign Het
Igf2r G T 17: 12,917,215 (GRCm39) Q1562K probably benign Het
Ilf3 G A 9: 21,305,533 (GRCm39) V232I probably benign Het
Irx5 C T 8: 93,087,259 (GRCm39) T397M possibly damaging Het
Kif16b A T 2: 142,691,827 (GRCm39) V219D probably damaging Het
Klkb1 T C 8: 45,730,052 (GRCm39) I276M probably benign Het
Large2 A G 2: 92,200,266 (GRCm39) L115P probably damaging Het
Lrrc3b T C 14: 15,358,423 (GRCm38) D61G probably benign Het
Map7 A G 10: 20,105,642 (GRCm39) Y31C possibly damaging Het
Moxd2 T A 6: 40,857,375 (GRCm39) I462F probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or5b98 T A 19: 12,931,377 (GRCm39) C141* probably null Het
Or9m2 G A 2: 87,821,175 (GRCm39) C240Y probably damaging Het
Phf20l1 T C 15: 66,504,669 (GRCm39) V770A possibly damaging Het
Ppfia4 G A 1: 134,240,886 (GRCm39) A819V probably damaging Het
Qrfpr A G 3: 36,236,676 (GRCm39) W242R probably damaging Het
Rgs3 A G 4: 62,523,729 (GRCm39) I53M probably benign Het
Rif1 T C 2: 51,971,311 (GRCm39) F263S probably damaging Het
Rpl22l1 T C 3: 28,860,743 (GRCm39) probably null Het
Ryr3 T A 2: 112,560,759 (GRCm39) I3001F probably benign Het
Safb2 A G 17: 56,873,900 (GRCm39) I675T probably damaging Het
Scart2 T A 7: 139,853,987 (GRCm39) I330N possibly damaging Het
Sec16b C T 1: 157,392,335 (GRCm39) S901L probably damaging Het
Setd5 T G 6: 113,091,995 (GRCm39) I272S probably damaging Het
Slc40a1 A T 1: 45,948,672 (GRCm39) M536K probably damaging Het
Slfn3 T C 11: 83,103,825 (GRCm39) V232A probably benign Het
Spata31d1b T C 13: 59,864,780 (GRCm39) S643P probably benign Het
Tbc1d23 T C 16: 57,019,107 (GRCm39) D251G probably benign Het
Tbccd1 T C 16: 22,641,249 (GRCm39) E376G possibly damaging Het
Tmem184a G T 5: 139,791,485 (GRCm39) P368T probably benign Het
Top1mt T C 15: 75,539,309 (GRCm39) D362G probably damaging Het
Top6bl T C 19: 4,677,274 (GRCm39) H612R probably benign Het
Ugt3a1 C A 15: 9,370,209 (GRCm39) P451H probably damaging Het
Unc80 G A 1: 66,677,221 (GRCm39) C2050Y possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r179 T C 7: 23,628,202 (GRCm39) V131A probably damaging Het
Wdr89 A G 12: 75,679,924 (GRCm39) F110S probably damaging Het
Znrf3 T C 11: 5,232,379 (GRCm39) Y282C probably damaging Het
Zscan18 T C 7: 12,503,297 (GRCm39) D754G 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
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
Predicted Primers PCR Primer
(F):5'- TTATCTGTTGCCAGCTCAGAC -3'
(R):5'- AAGCTTCCCTTGGCATCCAG -3'

Sequencing Primer
(F):5'- CTCAGACAGCAGGGCTAGTGTG -3'
(R):5'- CATCCAGCAGTGTCTGGTAG -3'
Posted On 2022-07-18