Incidental Mutation 'R6722:Scml4'
ID 529643
Institutional Source Beutler Lab
Gene Symbol Scml4
Ensembl Gene ENSMUSG00000044770
Gene Name Scm polycomb group protein like 4
Synonyms
MMRRC Submission 044840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6722 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 42736366-42836776 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 42736728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063063] [ENSMUST00000105494] [ENSMUST00000105495] [ENSMUST00000157071]
AlphaFold Q80VG1
Predicted Effect probably benign
Transcript: ENSMUST00000063063
SMART Domains Protein: ENSMUSP00000053157
Gene: ENSMUSG00000044770

DomainStartEndE-ValueType
AT_hook 8 20 7.58e-1 SMART
Pfam:DUF3588 95 205 9.5e-35 PFAM
low complexity region 288 306 N/A INTRINSIC
SAM 337 406 1.65e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105494
SMART Domains Protein: ENSMUSP00000101133
Gene: ENSMUSG00000044770

DomainStartEndE-ValueType
Pfam:DUF3588 34 150 1e-42 PFAM
low complexity region 230 248 N/A INTRINSIC
SAM 279 348 1.65e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105495
SMART Domains Protein: ENSMUSP00000101134
Gene: ENSMUSG00000044770

DomainStartEndE-ValueType
AT_hook 8 20 7.58e-1 SMART
Pfam:DUF3588 92 172 1.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136841
Predicted Effect probably benign
Transcript: ENSMUST00000157071
SMART Domains Protein: ENSMUSP00000122585
Gene: ENSMUSG00000044770

DomainStartEndE-ValueType
Pfam:DUF3588 41 95 7.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217505
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,468,228 (GRCm39) D131A probably damaging Het
Ank3 T C 10: 69,826,074 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,085,617 (GRCm39) probably benign Het
Bmal2 T A 6: 146,720,398 (GRCm39) D187E probably damaging Het
Castor2 T C 5: 134,164,458 (GRCm39) S140P probably benign Het
Ccdc162 T C 10: 41,520,637 (GRCm39) N673S probably benign Het
Cd84 G A 1: 171,700,344 (GRCm39) V154M probably damaging Het
Celsr1 C A 15: 85,790,115 (GRCm39) probably null Het
Cfap57 A C 4: 118,441,914 (GRCm39) L718R probably damaging Het
Cntnap5b G A 1: 100,406,211 (GRCm39) V803M probably damaging Het
Col6a2 C T 10: 76,450,392 (GRCm39) V180I probably damaging Het
Coq4 A T 2: 29,678,297 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,983 (GRCm39) T389A probably benign Het
Dennd1c T C 17: 57,373,802 (GRCm39) D587G probably benign Het
Dnaja4 A G 9: 54,607,038 (GRCm39) D9G probably damaging Het
Hes2 T G 4: 152,244,834 (GRCm39) L101R probably damaging Het
Icam2 A G 11: 106,273,307 (GRCm39) S2P probably damaging Het
Krt31 A G 11: 99,939,254 (GRCm39) L221P probably damaging Het
Lipm A T 19: 34,098,665 (GRCm39) N380Y probably benign Het
Lrp2bp G A 8: 46,473,600 (GRCm39) probably null Het
Mbd2 T A 18: 70,713,819 (GRCm39) M216K probably damaging Het
Mrps33 T C 6: 39,782,599 (GRCm39) probably benign Het
Nbeal2 T C 9: 110,462,060 (GRCm39) D1459G probably damaging Het
Ncapd3 T C 9: 26,998,852 (GRCm39) S1281P probably benign Het
Nt5c1b T A 12: 10,422,874 (GRCm39) Y56N possibly damaging Het
Nthl1 A G 17: 24,853,008 (GRCm39) K71E probably benign Het
Or4f62 T A 2: 111,987,227 (GRCm39) N310K probably benign Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pde4a G A 9: 21,122,521 (GRCm39) A806T probably damaging Het
Pde4d C A 13: 109,769,432 (GRCm39) S40* probably null Het
Pde4dip G A 3: 97,625,555 (GRCm39) R1348* probably null Het
Pdx1 C T 5: 147,207,310 (GRCm39) P88S probably damaging Het
Pnisr T A 4: 21,859,165 (GRCm39) V120D probably damaging Het
Prss51 G T 14: 64,332,508 (GRCm39) C65F probably damaging Het
Pus10 G A 11: 23,652,975 (GRCm39) E195K possibly damaging Het
Pzp T A 6: 128,464,917 (GRCm39) Q1319L probably damaging Het
Rbpms G T 8: 34,324,421 (GRCm39) T101K probably damaging Het
Rundc3a A G 11: 102,290,775 (GRCm39) N281S possibly damaging Het
Sez6 T C 11: 77,844,528 (GRCm39) V117A probably damaging Het
Sgsm2 A C 11: 74,756,250 (GRCm39) C366W probably damaging Het
Slc12a4 T C 8: 106,670,882 (GRCm39) probably null Het
Smg5 C T 3: 88,260,332 (GRCm39) R641C probably damaging Het
Stxbp3 A G 3: 108,723,762 (GRCm39) Y150H probably benign Het
Thoc2l T A 5: 104,668,145 (GRCm39) M889K probably damaging Het
Tkt T C 14: 30,291,041 (GRCm39) F351S probably damaging Het
Tln1 A G 4: 43,547,618 (GRCm39) L781P probably damaging Het
Triobp G A 15: 78,885,765 (GRCm39) E1823K probably damaging Het
Ttll4 T C 1: 74,720,948 (GRCm39) V538A possibly damaging Het
Uba52rt A G 4: 3,973,386 (GRCm39) Y59H probably benign Het
Vmn1r61 T A 7: 5,613,687 (GRCm39) N209I possibly damaging Het
Wdr75 T A 1: 45,844,512 (GRCm39) probably null Het
Zfp985 T C 4: 147,667,528 (GRCm39) V132A probably benign Het
Zswim3 T A 2: 164,662,544 (GRCm39) probably null Het
Other mutations in Scml4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01754:Scml4 APN 10 42,833,746 (GRCm39) utr 3 prime probably benign
IGL01814:Scml4 APN 10 42,811,041 (GRCm39) missense probably damaging 1.00
R0105:Scml4 UTSW 10 42,806,595 (GRCm39) missense probably damaging 1.00
R0740:Scml4 UTSW 10 42,806,559 (GRCm39) missense probably damaging 1.00
R1885:Scml4 UTSW 10 42,788,223 (GRCm39) missense probably damaging 1.00
R1886:Scml4 UTSW 10 42,788,223 (GRCm39) missense probably damaging 1.00
R1887:Scml4 UTSW 10 42,788,223 (GRCm39) missense probably damaging 1.00
R1959:Scml4 UTSW 10 42,832,017 (GRCm39) missense probably damaging 1.00
R3410:Scml4 UTSW 10 42,833,667 (GRCm39) missense probably damaging 1.00
R3622:Scml4 UTSW 10 42,806,607 (GRCm39) unclassified probably benign
R4774:Scml4 UTSW 10 42,833,743 (GRCm39) utr 3 prime probably benign
R5703:Scml4 UTSW 10 42,741,566 (GRCm39) intron probably benign
R6577:Scml4 UTSW 10 42,823,107 (GRCm39) missense probably damaging 1.00
R8084:Scml4 UTSW 10 42,806,602 (GRCm39) critical splice donor site probably null
R8252:Scml4 UTSW 10 42,800,100 (GRCm39) missense noncoding transcript
Predicted Primers PCR Primer
(F):5'- TCTTTAGAAGCCAGCGGTTG -3'
(R):5'- AGACACTCGTGCATTGCCAG -3'

Sequencing Primer
(F):5'- GCGGTTGGCTGGTTTTCC -3'
(R):5'- ACTCGTGCATTGCCAGAGAGG -3'
Posted On 2018-08-01