Incidental Mutation 'R1974:Qser1'
ID 221355
Institutional Source Beutler Lab
Gene Symbol Qser1
Ensembl Gene ENSMUSG00000074994
Gene Name glutamine and serine rich 1
Synonyms 4732486I23Rik
MMRRC Submission 039987-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # R1974 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 104585140-104647105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104590886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1637 (S1637P)
Ref Sequence ENSEMBL: ENSMUSP00000114062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117237] [ENSMUST00000231375]
AlphaFold A0A338P6K9
Predicted Effect probably damaging
Transcript: ENSMUST00000117237
AA Change: S1637P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: S1637P

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 damaging
Transcript: ENSMUST00000231375
AA Change: S1727P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Akap4 A G X: 6,943,595 (GRCm39) S633G probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Atp5mf A T 5: 145,121,389 (GRCm39) L64Q probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fbxw7 T A 3: 84,862,242 (GRCm39) C70S possibly damaging Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Grik2 A T 10: 49,008,923 (GRCm39) N721K possibly damaging Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Notch2 G A 3: 97,980,071 (GRCm39) G195D probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign 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
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
R5502:Qser1 UTSW 2 104,616,919 (GRCm39) missense probably benign 0.00
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'- TTAAATGTGCATGCATGTGGAC -3'
(R):5'- GCAGGCAACACGTCTATTATTTTG -3'

Sequencing Primer
(F):5'- CTGGTCTATAGAGTAAGTTCCAGGAC -3'
(R):5'- GGCAACACGTCTATTATTTTGCTATC -3'
Posted On 2014-08-25