Incidental Mutation 'R2434:Serinc4'
ID 250512
Institutional Source Beutler Lab
Gene Symbol Serinc4
Ensembl Gene ENSMUSG00000046110
Gene Name serine incorporator 4
Synonyms A930015D22Rik
MMRRC Submission 040395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R2434 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121281658-121287245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121286186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 134 (R134H)
Ref Sequence ENSEMBL: ENSMUSP00000106243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000056732] [ENSMUST00000099475] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000110615] [ENSMUST00000126764] [ENSMUST00000139253] [ENSMUST00000148575] [ENSMUST00000154418]
AlphaFold Q5XK03
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028677
Predicted Effect probably benign
Transcript: ENSMUST00000056312
AA Change: R134H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110
AA Change: R134H

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: ENSMUST00000099475
SMART Domains Protein: ENSMUSP00000097074
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 3.1e-14 PFAM
low complexity region 49 68 N/A INTRINSIC
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: R134H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106243
Gene: ENSMUSG00000046110
AA Change: R134H

DomainStartEndE-ValueType
Pfam:Serinc 34 280 5.6e-67 PFAM
low complexity region 342 364 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000140135
AA Change: R42H
SMART Domains Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110
AA Change: R42H

DomainStartEndE-ValueType
Pfam:Serinc 1 75 8.2e-14 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000127435
AA Change: R44H
SMART Domains Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110
AA Change: R44H

DomainStartEndE-ValueType
Pfam:Serinc 2 192 7.7e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000140752
AA Change: R44H
SMART Domains Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110
AA Change: R44H

DomainStartEndE-ValueType
Pfam:Serinc 2 78 7.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116724
Predicted Effect probably benign
Transcript: ENSMUST00000110615
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: 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: ENSMUST00000148575
SMART Domains Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

DomainStartEndE-ValueType
Pfam:4F5 1 38 2.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154418
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A G 5: 31,051,357 (GRCm39) Q493R probably damaging Het
Ank3 T C 10: 69,837,948 (GRCm39) V785A probably damaging Het
Capsl A T 15: 9,462,795 (GRCm39) H145L probably damaging Het
Carns1 A C 19: 4,215,448 (GRCm39) C911W probably damaging Het
Celsr2 A C 3: 108,311,795 (GRCm39) F1351V probably damaging Het
Cpne8 T C 15: 90,393,714 (GRCm39) I432V probably benign Het
Cpxm1 A T 2: 130,236,004 (GRCm39) I386N probably damaging Het
E2f5 T A 3: 14,644,074 (GRCm39) D65E probably damaging Het
Eif3a T C 19: 60,752,488 (GRCm39) probably benign Het
Fcrl2 A G 3: 87,164,005 (GRCm39) Y375H probably damaging Het
Fip1l1 C A 5: 74,707,485 (GRCm39) T196K possibly damaging Het
Fmo6 A T 1: 162,744,439 (GRCm39) N484K probably benign Het
Foxred1 G T 9: 35,116,954 (GRCm39) D345E probably damaging Het
Gbe1 T A 16: 70,238,100 (GRCm39) N295K probably damaging Het
Gipc2 T A 3: 151,843,317 (GRCm39) I107L probably benign Het
Kcnn1 GTCCTCCTCCTCCTCCTCCTC GTCCTCCTCCTCCTCCTC 8: 71,307,810 (GRCm39) probably benign Het
Lgr5 T A 10: 115,423,311 (GRCm39) I30L probably benign Het
Nbea A T 3: 55,554,881 (GRCm39) V2589E possibly damaging Het
Ncam2 A T 16: 81,392,113 (GRCm39) N699I probably benign Het
Nlrp1b T C 11: 71,047,552 (GRCm39) probably null Het
Or11l3 A G 11: 58,515,937 (GRCm39) Y312H possibly damaging Het
Rnasel T C 1: 153,630,396 (GRCm39) V304A probably damaging Het
Sim1 T A 10: 50,784,054 (GRCm39) Y103N probably damaging Het
Slc47a1 A T 11: 61,258,548 (GRCm39) probably null Het
Slc6a6 T A 6: 91,712,193 (GRCm39) S241T probably benign Het
Son G T 16: 91,451,575 (GRCm39) K107N probably damaging Het
St3gal6 T C 16: 58,291,015 (GRCm39) T329A probably damaging Het
Stab2 G A 10: 86,805,183 (GRCm39) P265L possibly damaging Het
Tmem199 G A 11: 78,400,570 (GRCm39) T119I probably damaging Het
Ttc14 A G 3: 33,855,227 (GRCm39) D125G probably benign Het
Vmn1r205 T A 13: 22,776,524 (GRCm39) M193L probably benign Het
Vmn2r-ps158 A G 7: 42,696,881 (GRCm39) Y646C probably damaging 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
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
R6854:Serinc4 UTSW 2 121,287,031 (GRCm39) missense probably benign 0.02
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'- CAACACTACAGTTAGAGAAGGTTTGC -3'
(R):5'- ATAGATTGTGGCTGGCCCTG -3'

Sequencing Primer
(F):5'- ACAGTTAGAGAAGGTTTGCATATAAC -3'
(R):5'- GTGGCTGGCCCTGACTTTTC -3'
Posted On 2014-11-12