Incidental Mutation 'R6854:Serinc4'
ID 535133
Institutional Source Beutler Lab
Gene Symbol Serinc4
Ensembl Gene ENSMUSG00000046110
Gene Name serine incorporator 4
Synonyms A930015D22Rik
MMRRC Submission 044957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 121281658-121287245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121287031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 2 (M2L)
Ref Sequence ENSEMBL: ENSMUSP00000106243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000056732] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000126764] [ENSMUST00000139253] [ENSMUST00000148575] [ENSMUST00000154418]
AlphaFold Q5XK03
Predicted Effect probably benign
Transcript: ENSMUST00000056312
AA Change: M2L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110
AA Change: M2L

DomainStartEndE-ValueType
Pfam:Serinc 33 488 3e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056732
SMART Domains Protein: ENSMUSP00000049548
Gene: ENSMUSG00000048222

DomainStartEndE-ValueType
low complexity region 51 59 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
coiled coil region 134 150 N/A INTRINSIC
Pfam:MFAP1 190 399 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110612
SMART Domains Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245

DomainStartEndE-ValueType
coiled coil region 69 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110613
AA Change: M2L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106243
Gene: ENSMUSG00000046110
AA Change: M2L

DomainStartEndE-ValueType
Pfam:Serinc 34 280 5.6e-67 PFAM
low complexity region 342 364 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126764
SMART Domains Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245

DomainStartEndE-ValueType
coiled coil region 69 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127435
SMART Domains Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 192 7.7e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139253
SMART Domains Protein: ENSMUSP00000123181
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 1e-14 PFAM
low complexity region 45 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140135
SMART Domains Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 1 75 8.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140752
SMART Domains Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 78 7.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148575
SMART Domains Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 2.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154418
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Flrt3 C T 2: 140,502,638 (GRCm39) R330H probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Palmd A G 3: 116,717,112 (GRCm39) S462P probably benign Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Plcd1 T C 9: 118,903,389 (GRCm39) probably null Het
Pml G C 9: 58,127,189 (GRCm39) A806G probably damaging Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Siglecf T C 7: 43,001,604 (GRCm39) V138A probably benign Het
Slc66a3 G A 12: 17,049,830 (GRCm39) L43F probably damaging Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign Het
Other mutations in Serinc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Serinc4 APN 2 121,285,472 (GRCm39) missense probably damaging 1.00
IGL02720:Serinc4 APN 2 121,282,908 (GRCm39) missense probably benign 0.11
IGL03036:Serinc4 APN 2 121,270,039 (GRCm39) splice site probably benign
IGL03192:Serinc4 APN 2 121,282,872 (GRCm39) nonsense probably null
R2434:Serinc4 UTSW 2 121,286,186 (GRCm39) missense probably benign 0.00
R4897:Serinc4 UTSW 2 121,282,905 (GRCm39) missense probably damaging 1.00
R5378:Serinc4 UTSW 2 121,282,861 (GRCm39) missense possibly damaging 0.96
R6908:Serinc4 UTSW 2 121,284,086 (GRCm39) missense probably benign
R7502:Serinc4 UTSW 2 121,284,250 (GRCm39) missense probably damaging 0.99
R7979:Serinc4 UTSW 2 121,285,793 (GRCm39) missense probably benign 0.00
R8093:Serinc4 UTSW 2 121,285,434 (GRCm39) missense possibly damaging 0.78
R9192:Serinc4 UTSW 2 121,287,250 (GRCm39) utr 3 prime probably benign
R9732:Serinc4 UTSW 2 121,283,631 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- GGGAATGTGGAATGAGATGTTTACC -3'
(R):5'- TGATCCCGAATAGGAAGCCC -3'

Sequencing Primer
(F):5'- GAGATGTTTACCTATTACCCAGGC -3'
(R):5'- GGCATCTTCACAAGACTATTTGC -3'
Posted On 2018-09-12