Incidental Mutation 'R9419:Serinc2'
ID 712213
Institutional Source Beutler Lab
Gene Symbol Serinc2
Ensembl Gene ENSMUSG00000023232
Gene Name serine incorporator 2
Synonyms FKSG84, 2310004K20Rik, TDE2, Tde2l
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R9419 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 130253495-130279205 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130255522 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 296 (T296A)
Ref Sequence ENSEMBL: ENSMUSP00000112535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105996] [ENSMUST00000120126] [ENSMUST00000122374]
AlphaFold Q8K0E7
Predicted Effect probably damaging
Transcript: ENSMUST00000105996
AA Change: T351A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101618
Gene: ENSMUSG00000023232
AA Change: T351A

DomainStartEndE-ValueType
Pfam:Serinc 15 449 4.1e-162 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120126
AA Change: T360A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113044
Gene: ENSMUSG00000023232
AA Change: T360A

DomainStartEndE-ValueType
Pfam:Serinc 25 457 1.4e-158 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122374
AA Change: T296A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112535
Gene: ENSMUSG00000023232
AA Change: T296A

DomainStartEndE-ValueType
Pfam:Serinc 1 394 2.9e-148 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,628,521 T30A unknown Het
A430089I19Rik G T 5: 94,303,142 P375H probably damaging Het
Abca12 A G 1: 71,303,490 Y944H possibly damaging Het
Adgrv1 T C 13: 81,508,768 N2869S probably benign Het
Ank1 C A 8: 23,084,809 Q140K probably damaging Het
Aspm T A 1: 139,457,185 M189K probably benign Het
Atp2b1 G T 10: 99,001,316 R539L possibly damaging Het
Camsap1 A G 2: 25,955,292 S152P Het
Catsperd A T 17: 56,651,821 I276L probably benign Het
Cbarp A G 10: 80,132,027 V460A probably damaging Het
Cd40 A T 2: 165,062,242 probably benign Het
Cdk11b A T 4: 155,639,845 T307S unknown Het
Chfr C T 5: 110,169,190 T643I probably damaging Het
Cnbd1 T C 4: 19,098,156 Q88R probably benign Het
Col15a1 G C 4: 47,288,200 probably benign Het
Dusp27 T C 1: 166,100,186 Q619R probably damaging Het
Ghdc G T 11: 100,770,255 A28D probably damaging Het
Gm5114 T C 7: 39,408,116 H693R possibly damaging Het
Gm8251 T C 1: 44,057,775 I1388V probably benign Het
H2-M1 G T 17: 36,670,339 A268E probably damaging Het
Hsf5 A G 11: 87,638,109 N557D probably benign Het
Ighg2c A G 12: 113,287,395 probably benign Het
Il17ra C A 6: 120,481,294 Q469K possibly damaging Het
Ipo8 T A 6: 148,784,566 N809Y probably benign Het
Klra10 T A 6: 130,279,472 Q73L probably damaging Het
Lamb2 T C 9: 108,479,760 V3A unknown Het
Map3k9 T C 12: 81,780,567 Y103C probably damaging Het
Map4 T C 9: 110,052,961 S298P possibly damaging Het
Mtus2 T A 5: 148,306,641 N1254K probably damaging Het
Nap1l5 T A 6: 58,906,967 M1L probably benign Het
Nfxl1 G A 5: 72,559,298 probably benign Het
Nmd3 T C 3: 69,736,016 I227T probably benign Het
Olfr250 T G 9: 38,367,866 C97G probably damaging Het
Ptchd3 G A 11: 121,841,530 M415I possibly damaging Het
Rab28 A T 5: 41,635,839 S154R possibly damaging Het
Rin1 A G 19: 5,053,707 E567G probably damaging Het
Rrbp1 A C 2: 143,969,516 V806G probably benign Het
Sec63 T A 10: 42,803,905 L326Q probably damaging Het
Skint10 G A 4: 112,715,784 L272F probably damaging Het
Slc4a11 C T 2: 130,691,744 A100T probably damaging Het
Stag1 A G 9: 100,929,914 Q815R probably benign Het
Stat3 A G 11: 100,889,531 M735T possibly damaging Het
Stat3 A G 11: 100,893,912 I576T probably benign Het
Syne1 T C 10: 5,205,071 K5623E probably benign Het
Tas1r2 T C 4: 139,659,725 V165A possibly damaging Het
Tcaf3 A T 6: 42,596,782 D165E probably benign Het
Tex2 G A 11: 106,567,009 Q532* probably null Het
Utrn T C 10: 12,688,381 E1245G probably damaging Het
Other mutations in Serinc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Serinc2 APN 4 130264408 missense possibly damaging 0.88
IGL02031:Serinc2 APN 4 130264444 nonsense probably null
IGL02551:Serinc2 APN 4 130260774 missense probably benign 0.01
R1455:Serinc2 UTSW 4 130264340 missense probably damaging 0.96
R1520:Serinc2 UTSW 4 130260750 missense probably benign 0.00
R2059:Serinc2 UTSW 4 130260785 missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130265212 missense probably damaging 1.00
R2869:Serinc2 UTSW 4 130265212 missense probably damaging 1.00
R3160:Serinc2 UTSW 4 130260735 missense probably benign
R3162:Serinc2 UTSW 4 130260735 missense probably benign
R4497:Serinc2 UTSW 4 130254054 missense possibly damaging 0.67
R4735:Serinc2 UTSW 4 130263645 missense probably benign 0.13
R4987:Serinc2 UTSW 4 130263027 splice site probably null
R5569:Serinc2 UTSW 4 130278479 missense probably benign 0.17
R5681:Serinc2 UTSW 4 130265076 missense probably damaging 1.00
R5946:Serinc2 UTSW 4 130255521 missense possibly damaging 0.91
R6556:Serinc2 UTSW 4 130258271 missense probably damaging 1.00
R6898:Serinc2 UTSW 4 130255442 missense probably benign 0.13
R7264:Serinc2 UTSW 4 130258259 missense probably benign 0.00
R7526:Serinc2 UTSW 4 130258790 missense probably benign 0.03
R7835:Serinc2 UTSW 4 130275487 missense unknown
R8744:Serinc2 UTSW 4 130265195 start gained probably benign
R8819:Serinc2 UTSW 4 130255379 missense probably damaging 1.00
R8820:Serinc2 UTSW 4 130255379 missense probably damaging 1.00
R9335:Serinc2 UTSW 4 130264427 missense probably benign 0.01
R9542:Serinc2 UTSW 4 130258723 nonsense probably null
R9688:Serinc2 UTSW 4 130264340 missense probably damaging 0.96
Z1176:Serinc2 UTSW 4 130253995 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCATACCTGTACCAGTTGG -3'
(R):5'- AATCCAGGGTTCACAGAGGG -3'

Sequencing Primer
(F):5'- CCAGTTGGTAAGCGTCATCATGAC -3'
(R):5'- CACAGAGGGTGTATTTTACTCAGG -3'
Posted On 2022-05-16