Incidental Mutation 'R7723:Serinc1'
ID 595352
Institutional Source Beutler Lab
Gene Symbol Serinc1
Ensembl Gene ENSMUSG00000019877
Gene Name serine incorporator 1
Synonyms Tde2, TMS-2, 1500011D18Rik, Tde1l
MMRRC Submission 045779-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.667) question?
Stock # R7723 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 57391870-57408573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57403918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 15 (P15L)
Ref Sequence ENSEMBL: ENSMUSP00000020027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020027] [ENSMUST00000169122] [ENSMUST00000170062]
AlphaFold Q9QZI8
Predicted Effect probably benign
Transcript: ENSMUST00000020027
AA Change: P15L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020027
Gene: ENSMUSG00000019877
AA Change: P15L

DomainStartEndE-ValueType
Pfam:Serinc 16 451 9.5e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169122
AA Change: P15L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126561
Gene: ENSMUSG00000019877
AA Change: P15L

DomainStartEndE-ValueType
Pfam:Serinc 15 152 1.9e-50 PFAM
Pfam:Serinc 149 220 6.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170062
AA Change: P15L

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127041
Gene: ENSMUSG00000019877
AA Change: P15L

DomainStartEndE-ValueType
Pfam:Serinc 15 113 9.1e-31 PFAM
Meta Mutation Damage Score 0.3681 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Male homozygous mutant mice exhibited signs of growth retardation including decreased mean body weight and length total tissue mass and lean body mass. No other notable phenotype was observed for the homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Brinp3 C T 1: 146,577,409 (GRCm39) T148I probably damaging Het
C1qa A T 4: 136,623,744 (GRCm39) C153* probably null Het
Camkk1 G T 11: 72,928,058 (GRCm39) R363L probably benign Het
Ccdc80 T G 16: 44,946,798 (GRCm39) probably null Het
Cenpu T C 8: 47,029,349 (GRCm39) S351P probably damaging Het
Chd9 C T 8: 91,741,837 (GRCm39) L1609F unknown Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Cyp3a59 A T 5: 146,016,154 (GRCm39) I4F probably benign Het
Dph6 A G 2: 114,475,236 (GRCm39) V93A probably damaging Het
Egf T A 3: 129,499,786 (GRCm39) M785L probably benign Het
Fbn1 A T 2: 125,223,954 (GRCm39) C598* probably null Het
Fer T C 17: 64,203,273 (GRCm39) S68P probably damaging Het
Herc1 C T 9: 66,279,158 (GRCm39) T22I probably benign Het
Kat2b A G 17: 53,945,415 (GRCm39) D278G possibly damaging Het
Kdm1a C T 4: 136,285,060 (GRCm39) V520I probably benign Het
Lrrc4c G T 2: 97,460,999 (GRCm39) V542L possibly damaging Het
Lrrtm3 T C 10: 63,924,427 (GRCm39) T247A possibly damaging Het
Macf1 T C 4: 123,326,717 (GRCm39) S4929G probably benign Het
Mbd4 A T 6: 115,822,324 (GRCm39) H428Q possibly damaging Het
Mink1 C G 11: 70,503,736 (GRCm39) Q1183E probably benign Het
Myo9a C T 9: 59,687,141 (GRCm39) P82L probably damaging Het
Nts T C 10: 102,320,784 (GRCm39) T102A probably damaging Het
Nup35 T C 2: 80,486,375 (GRCm39) I230T possibly damaging Het
Nwd2 A T 5: 63,965,347 (GRCm39) T1644S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5j A T 9: 39,867,920 (GRCm39) Y104N possibly damaging Het
Or13p10 A G 4: 118,522,914 (GRCm39) S67G probably benign Het
Or2at4 A G 7: 99,384,884 (GRCm39) Y178C possibly damaging Het
Or2l13b A T 16: 19,349,358 (GRCm39) L104* probably null Het
Or5d44 A C 2: 88,141,819 (GRCm39) V107G possibly damaging Het
Palld C T 8: 62,164,492 (GRCm39) V400I probably damaging Het
Pank2 T C 2: 131,122,258 (GRCm39) V261A probably damaging Het
Pcdhb3 C A 18: 37,435,565 (GRCm39) N510K probably damaging Het
Pfkfb2 A T 1: 130,635,325 (GRCm39) Y79N probably damaging Het
Phc2 C T 4: 128,616,882 (GRCm39) A385V probably benign Het
Prob1 T C 18: 35,785,942 (GRCm39) T771A possibly damaging Het
Psmb6 T C 11: 70,417,396 (GRCm39) V109A possibly damaging Het
Ptcd1 T C 5: 145,091,639 (GRCm39) T487A probably damaging Het
Ralgapa1 A T 12: 55,788,298 (GRCm39) M595K probably benign Het
Rps12 A T 10: 23,662,752 (GRCm39) V14D probably benign Het
Scn3b C A 9: 40,199,693 (GRCm39) S203* probably null Het
Six2 A G 17: 85,995,103 (GRCm39) I93T probably benign Het
Slco1a1 T A 6: 141,854,795 (GRCm39) I619F probably damaging Het
Snx25 A C 8: 46,491,516 (GRCm39) V858G probably damaging Het
Sspo G A 6: 48,441,572 (GRCm39) C1903Y probably damaging Het
Tas2r116 T A 6: 132,832,867 (GRCm39) I156N probably benign Het
Tasp1 G T 2: 139,827,051 (GRCm39) T189K probably damaging Het
Tdrd6 A T 17: 43,936,851 (GRCm39) M1399K probably benign Het
Tecta C A 9: 42,278,232 (GRCm39) C1092F probably damaging Het
Tmem150a G A 6: 72,336,057 (GRCm39) V215I probably damaging Het
Tmem176b C T 6: 48,812,869 (GRCm39) V109I probably benign Het
Trav8d-1 T A 14: 53,016,321 (GRCm39) I69K probably damaging Het
Ttn A T 2: 76,638,419 (GRCm39) L13954I probably damaging Het
Veph1 C A 3: 66,113,093 (GRCm39) C237F possibly damaging Het
Vmn1r121 G A 7: 20,832,119 (GRCm39) T107I probably damaging Het
Zdhhc13 G A 7: 48,458,567 (GRCm39) M300I probably benign Het
Zfp608 T C 18: 55,030,673 (GRCm39) D1089G probably damaging Het
Other mutations in Serinc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Serinc1 APN 10 57,399,204 (GRCm39) missense probably damaging 1.00
IGL02600:Serinc1 APN 10 57,399,127 (GRCm39) missense probably benign 0.23
IGL02666:Serinc1 APN 10 57,400,089 (GRCm39) splice site probably null
IGL02829:Serinc1 APN 10 57,400,061 (GRCm39) nonsense probably null
IGL03109:Serinc1 APN 10 57,399,165 (GRCm39) missense probably benign 0.22
Olive UTSW 10 57,393,306 (GRCm39) missense probably damaging 1.00
ANU74:Serinc1 UTSW 10 57,395,938 (GRCm39) missense probably benign 0.00
R0254:Serinc1 UTSW 10 57,399,304 (GRCm39) missense probably damaging 0.99
R0453:Serinc1 UTSW 10 57,393,306 (GRCm39) missense probably damaging 1.00
R0845:Serinc1 UTSW 10 57,401,479 (GRCm39) missense probably benign 0.39
R1912:Serinc1 UTSW 10 57,401,547 (GRCm39) missense probably benign 0.05
R1913:Serinc1 UTSW 10 57,395,561 (GRCm39) missense probably benign 0.01
R4820:Serinc1 UTSW 10 57,401,466 (GRCm39) missense possibly damaging 0.89
R4947:Serinc1 UTSW 10 57,399,141 (GRCm39) missense probably damaging 0.99
R5299:Serinc1 UTSW 10 57,399,147 (GRCm39) missense probably damaging 0.99
R5562:Serinc1 UTSW 10 57,400,147 (GRCm39) nonsense probably null
R5589:Serinc1 UTSW 10 57,399,262 (GRCm39) missense probably benign 0.01
R7182:Serinc1 UTSW 10 57,400,457 (GRCm39) missense probably benign 0.00
R8742:Serinc1 UTSW 10 57,395,895 (GRCm39) missense probably benign 0.31
R8885:Serinc1 UTSW 10 57,395,864 (GRCm39) missense probably benign 0.00
R8912:Serinc1 UTSW 10 57,400,075 (GRCm39) missense probably benign 0.10
R9126:Serinc1 UTSW 10 57,395,577 (GRCm39) missense probably benign
Z1177:Serinc1 UTSW 10 57,399,106 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGTGCCGCCATCATAAGAC -3'
(R):5'- TGCCGATGGTTAGTTCCCAC -3'

Sequencing Primer
(F):5'- GTGCCGCCATCATAAGACTATAATC -3'
(R):5'- TTTACTTGATGTAGAGGACAAAGGC -3'
Posted On 2019-11-12