Incidental Mutation 'R5502:Qser1'
ID 430643
Institutional Source Beutler Lab
Gene Symbol Qser1
Ensembl Gene ENSMUSG00000074994
Gene Name glutamine and serine rich 1
Synonyms 4732486I23Rik
MMRRC Submission 043063-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R5502 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 104585140-104647105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104616919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1298 (T1298A)
Ref Sequence ENSEMBL: ENSMUSP00000155882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117237] [ENSMUST00000231375]
AlphaFold A0A338P6K9
Predicted Effect probably benign
Transcript: ENSMUST00000117237
AA Change: T1208A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: T1208A

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 196 209 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
low complexity region 403 427 N/A INTRINSIC
low complexity region 532 550 N/A INTRINSIC
low complexity region 697 713 N/A INTRINSIC
low complexity region 1037 1050 N/A INTRINSIC
low complexity region 1420 1449 N/A INTRINSIC
Pfam:DUF4211 1470 1616 1e-26 PFAM
low complexity region 1631 1647 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231375
AA Change: T1298A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.0%
  • 20x: 90.2%
Validation Efficiency 98% (84/86)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc8 A G 7: 45,758,262 (GRCm39) I1268T probably benign Het
Accsl C T 2: 93,687,289 (GRCm39) probably null Het
Actmap A G 7: 26,896,542 (GRCm39) D35G possibly damaging Het
Ank3 A T 10: 69,756,291 (GRCm39) I842F probably benign Het
Bbs9 T A 9: 22,415,370 (GRCm39) L98Q probably damaging Het
Bin2 A G 15: 100,543,286 (GRCm39) V299A probably benign Het
Cabp4 G A 19: 4,181,228 (GRCm39) probably benign Het
Ces2f A T 8: 105,679,155 (GRCm39) H324L possibly damaging Het
Chd4 G A 6: 125,082,239 (GRCm39) R576Q possibly damaging Het
Cndp1 A G 18: 84,650,138 (GRCm39) V185A possibly damaging Het
Cntn3 A C 6: 102,242,295 (GRCm39) V450G possibly damaging Het
Col5a2 C A 1: 45,419,286 (GRCm39) G1265W probably damaging Het
Corin G A 5: 72,473,449 (GRCm39) Q754* probably null Het
Cyp4a10 A G 4: 115,382,702 (GRCm39) N291S probably benign Het
Dap3 T C 3: 88,832,633 (GRCm39) Y353C probably damaging Het
Disp1 A G 1: 182,869,450 (GRCm39) V990A probably damaging Het
Dock9 A T 14: 121,847,594 (GRCm39) probably null Het
Dop1b T A 16: 93,590,114 (GRCm39) V179E probably benign Het
Eps15l1 A T 8: 73,132,836 (GRCm39) probably null Het
Fyb2 A T 4: 104,802,521 (GRCm39) Q141L probably damaging Het
Gemin4 A T 11: 76,104,227 (GRCm39) L178* probably null Het
Gm15446 A T 5: 110,088,364 (GRCm39) K25* probably null Het
Gm17067 A T 7: 42,357,843 (GRCm39) C220S probably damaging Het
Gm4868 A G 5: 125,925,042 (GRCm39) noncoding transcript Het
Golga4 GT GTT 9: 118,388,125 (GRCm39) probably null Het
Gria2 T C 3: 80,614,252 (GRCm39) N596S probably damaging Het
Hoxb4 A G 11: 96,211,057 (GRCm39) D219G probably damaging Het
Htr1b T A 9: 81,513,854 (GRCm39) Q251L possibly damaging Het
Ibtk A C 9: 85,602,916 (GRCm39) S696R probably benign Het
Ide C A 19: 37,307,855 (GRCm39) K52N unknown Het
Incenp C A 19: 9,870,728 (GRCm39) L300F unknown Het
Ino80 T C 2: 119,232,877 (GRCm39) Y1147C probably damaging Het
Mme T A 3: 63,207,702 (GRCm39) Y49* probably null Het
Mmp15 A T 8: 96,094,812 (GRCm39) T229S possibly damaging Het
Mtmr4 A T 11: 87,504,904 (GRCm39) N1133I probably damaging Het
Mycbp2 C T 14: 103,411,250 (GRCm39) G284R probably damaging Het
Myo3a T C 2: 22,448,381 (GRCm39) I52T probably damaging Het
Nat8f5 G T 6: 85,794,635 (GRCm39) F108L probably damaging Het
Nbeal1 T A 1: 60,350,158 (GRCm39) H2402Q probably damaging Het
Nexn T A 3: 151,943,941 (GRCm39) E331D probably damaging Het
Nktr C T 9: 121,577,672 (GRCm39) probably benign Het
Oaz3 T C 3: 94,342,392 (GRCm39) D88G probably damaging Het
Or1n1 T C 2: 36,750,282 (GRCm39) Y26C probably damaging Het
Or4l1 A G 14: 50,166,993 (GRCm39) Y3H probably benign Het
Pcdhb9 A T 18: 37,534,656 (GRCm39) T217S possibly damaging Het
Pcdhga2 A T 18: 37,803,605 (GRCm39) D483V possibly damaging Het
Pde5a G T 3: 122,596,681 (GRCm39) G456V probably damaging Het
Rapgef5 T C 12: 117,685,064 (GRCm39) V303A probably damaging Het
Rbbp6 T G 7: 122,587,947 (GRCm39) M267R probably damaging Het
Rfx8 C A 1: 39,722,113 (GRCm39) V291F probably damaging Het
Rnf121 T C 7: 101,672,555 (GRCm39) K276R probably null Het
Rtca G T 3: 116,282,931 (GRCm39) Y352* probably null Het
Rusf1 C T 7: 127,884,308 (GRCm39) V225M probably damaging Het
Sacs T C 14: 61,443,549 (GRCm39) V1865A probably damaging Het
Sclt1 C T 3: 41,611,710 (GRCm39) E521K probably benign Het
Setd1a T C 7: 127,396,420 (GRCm39) probably null Het
Slc37a4 G T 9: 44,313,394 (GRCm39) V337L probably benign Het
Slc5a9 G T 4: 111,750,366 (GRCm39) S79* probably null Het
Snrpd2 T C 7: 18,885,247 (GRCm39) V36A probably benign Het
Spata31d1b A T 13: 59,864,486 (GRCm39) N545Y probably damaging Het
Sstr4 CGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 2: 148,237,471 (GRCm39) probably benign Het
St7 G A 6: 17,834,673 (GRCm39) V98I possibly damaging Het
Strip2 A T 6: 29,927,623 (GRCm39) I223F probably benign Het
Syn2 A C 6: 115,255,313 (GRCm39) N542H possibly damaging Het
Tbc1d2b T C 9: 90,109,496 (GRCm39) T327A probably benign Het
Timm44 A T 8: 4,319,992 (GRCm39) F59I possibly damaging Het
Tmem41b A T 7: 109,581,970 (GRCm39) C44* probably null Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Tusc3 A T 8: 39,597,947 (GRCm39) K188* probably null Het
Usp39 T A 6: 72,305,670 (GRCm39) Q371L probably benign Het
Vmn2r13 G T 5: 109,321,580 (GRCm39) N372K probably damaging Het
Zfp961 T A 8: 72,721,903 (GRCm39) Y139N probably damaging Het
Other mutations in Qser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Qser1 APN 2 104,596,401 (GRCm39) missense probably damaging 1.00
IGL00402:Qser1 APN 2 104,617,326 (GRCm39) missense probably benign 0.00
IGL00417:Qser1 APN 2 104,617,248 (GRCm39) missense probably damaging 1.00
IGL00756:Qser1 APN 2 104,618,016 (GRCm39) missense possibly damaging 0.55
IGL01304:Qser1 APN 2 104,617,976 (GRCm39) missense probably damaging 0.99
IGL01317:Qser1 APN 2 104,617,324 (GRCm39) missense probably damaging 0.99
IGL02186:Qser1 APN 2 104,618,606 (GRCm39) missense probably damaging 1.00
IGL03236:Qser1 APN 2 104,616,877 (GRCm39) missense probably benign 0.35
IGL03365:Qser1 APN 2 104,617,344 (GRCm39) missense probably damaging 1.00
Behoove UTSW 2 104,617,322 (GRCm39) nonsense probably null
I1329:Qser1 UTSW 2 104,617,322 (GRCm39) nonsense probably null
R0270:Qser1 UTSW 2 104,619,306 (GRCm39) missense probably benign 0.03
R0395:Qser1 UTSW 2 104,593,226 (GRCm39) missense probably damaging 1.00
R0523:Qser1 UTSW 2 104,620,021 (GRCm39) missense probably damaging 1.00
R0727:Qser1 UTSW 2 104,607,656 (GRCm39) splice site probably benign
R1037:Qser1 UTSW 2 104,590,900 (GRCm39) missense probably damaging 0.99
R1222:Qser1 UTSW 2 104,607,776 (GRCm39) missense probably damaging 1.00
R1418:Qser1 UTSW 2 104,607,776 (GRCm39) missense probably damaging 1.00
R1891:Qser1 UTSW 2 104,620,444 (GRCm39) missense probably benign
R1974:Qser1 UTSW 2 104,590,886 (GRCm39) missense probably damaging 1.00
R2200:Qser1 UTSW 2 104,619,358 (GRCm39) missense probably damaging 1.00
R4179:Qser1 UTSW 2 104,606,729 (GRCm39) missense probably benign 0.19
R4379:Qser1 UTSW 2 104,596,404 (GRCm39) splice site probably null
R4418:Qser1 UTSW 2 104,619,766 (GRCm39) missense probably damaging 1.00
R4585:Qser1 UTSW 2 104,617,138 (GRCm39) missense probably benign 0.01
R4697:Qser1 UTSW 2 104,617,528 (GRCm39) missense probably benign 0.00
R4749:Qser1 UTSW 2 104,617,649 (GRCm39) missense probably benign 0.16
R4775:Qser1 UTSW 2 104,620,246 (GRCm39) missense probably damaging 1.00
R5010:Qser1 UTSW 2 104,618,176 (GRCm39) missense possibly damaging 0.67
R5070:Qser1 UTSW 2 104,617,627 (GRCm39) missense possibly damaging 0.49
R5268:Qser1 UTSW 2 104,617,776 (GRCm39) missense possibly damaging 0.47
R5384:Qser1 UTSW 2 104,616,987 (GRCm39) missense probably damaging 1.00
R5400:Qser1 UTSW 2 104,620,219 (GRCm39) missense probably damaging 1.00
R5615:Qser1 UTSW 2 104,620,039 (GRCm39) missense possibly damaging 0.78
R5664:Qser1 UTSW 2 104,608,541 (GRCm39) missense probably damaging 1.00
R5750:Qser1 UTSW 2 104,619,268 (GRCm39) missense probably damaging 1.00
R5793:Qser1 UTSW 2 104,593,205 (GRCm39) missense probably damaging 1.00
R6035:Qser1 UTSW 2 104,617,468 (GRCm39) missense probably damaging 0.99
R6035:Qser1 UTSW 2 104,617,468 (GRCm39) missense probably damaging 0.99
R6171:Qser1 UTSW 2 104,619,628 (GRCm39) missense probably damaging 1.00
R6223:Qser1 UTSW 2 104,617,993 (GRCm39) missense probably benign 0.01
R6254:Qser1 UTSW 2 104,620,435 (GRCm39) missense probably benign 0.07
R6303:Qser1 UTSW 2 104,593,175 (GRCm39) missense probably damaging 1.00
R6653:Qser1 UTSW 2 104,610,605 (GRCm39) missense possibly damaging 0.85
R6703:Qser1 UTSW 2 104,607,670 (GRCm39) missense possibly damaging 0.50
R6970:Qser1 UTSW 2 104,618,475 (GRCm39) missense probably benign 0.25
R7064:Qser1 UTSW 2 104,617,464 (GRCm39) missense probably damaging 1.00
R7478:Qser1 UTSW 2 104,619,859 (GRCm39) missense probably damaging 1.00
R7643:Qser1 UTSW 2 104,617,322 (GRCm39) nonsense probably null
R7769:Qser1 UTSW 2 104,588,921 (GRCm39) missense possibly damaging 0.65
R7836:Qser1 UTSW 2 104,606,579 (GRCm39) missense probably damaging 1.00
R7938:Qser1 UTSW 2 104,619,312 (GRCm39) missense probably damaging 1.00
R8209:Qser1 UTSW 2 104,619,070 (GRCm39) missense probably benign 0.02
R8218:Qser1 UTSW 2 104,593,268 (GRCm39) missense probably damaging 1.00
R8226:Qser1 UTSW 2 104,619,070 (GRCm39) missense probably benign 0.02
R8341:Qser1 UTSW 2 104,619,820 (GRCm39) missense probably damaging 0.99
R8362:Qser1 UTSW 2 104,620,246 (GRCm39) missense probably damaging 1.00
R8785:Qser1 UTSW 2 104,618,098 (GRCm39) missense probably damaging 0.99
R8983:Qser1 UTSW 2 104,617,702 (GRCm39) missense probably benign 0.02
R9051:Qser1 UTSW 2 104,593,292 (GRCm39) missense possibly damaging 0.52
R9165:Qser1 UTSW 2 104,618,815 (GRCm39) missense probably benign 0.41
R9289:Qser1 UTSW 2 104,617,593 (GRCm39) missense possibly damaging 0.48
R9342:Qser1 UTSW 2 104,618,164 (GRCm39) missense probably benign 0.00
R9380:Qser1 UTSW 2 104,619,691 (GRCm39) nonsense probably null
R9736:Qser1 UTSW 2 104,619,988 (GRCm39) missense probably benign 0.00
T0722:Qser1 UTSW 2 104,617,177 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TGTAACCAAAATCCTACATGCAAGG -3'
(R):5'- AACCACCCGTACGTTCTGTC -3'

Sequencing Primer
(F):5'- AATCCTACATGCAAGGAAATGTC -3'
(R):5'- GTCCCCCACCTTTTGCAAAGAC -3'
Posted On 2016-10-05