Incidental Mutation 'IGL01304:Qser1'
ID73350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qser1
Ensembl Gene ENSMUSG00000074994
Gene Nameglutamine and serine rich 1
Synonyms4732486I23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.457) question?
Stock #IGL01304
Quality Score
Status
Chromosome2
Chromosomal Location104754795-104816760 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 104787631 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 945 (Q945H)
Ref Sequence ENSEMBL: ENSMUSP00000155882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117237] [ENSMUST00000231375]
Predicted Effect probably damaging
Transcript: ENSMUST00000117237
AA Change: Q855H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: Q855H

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: Q945H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Qser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Qser1 APN 2 104766056 missense probably damaging 1.00
IGL00402:Qser1 APN 2 104786981 missense probably benign 0.00
IGL00417:Qser1 APN 2 104786903 missense probably damaging 1.00
IGL00756:Qser1 APN 2 104787671 missense possibly damaging 0.55
IGL01317:Qser1 APN 2 104786979 missense probably damaging 0.99
IGL02186:Qser1 APN 2 104788261 missense probably damaging 1.00
IGL03236:Qser1 APN 2 104786532 missense probably benign 0.35
IGL03365:Qser1 APN 2 104786999 missense probably damaging 1.00
Behoove UTSW 2 104786977 nonsense probably null
I1329:Qser1 UTSW 2 104786977 nonsense probably null
R0270:Qser1 UTSW 2 104788961 missense probably benign 0.03
R0395:Qser1 UTSW 2 104762881 missense probably damaging 1.00
R0523:Qser1 UTSW 2 104789676 missense probably damaging 1.00
R0727:Qser1 UTSW 2 104777311 splice site probably benign
R1037:Qser1 UTSW 2 104760555 missense probably damaging 0.99
R1222:Qser1 UTSW 2 104777431 missense probably damaging 1.00
R1418:Qser1 UTSW 2 104777431 missense probably damaging 1.00
R1891:Qser1 UTSW 2 104790099 missense probably benign
R1974:Qser1 UTSW 2 104760541 missense probably damaging 1.00
R2200:Qser1 UTSW 2 104789013 missense probably damaging 1.00
R4179:Qser1 UTSW 2 104776384 missense probably benign 0.19
R4379:Qser1 UTSW 2 104766059 splice site probably null
R4418:Qser1 UTSW 2 104789421 missense probably damaging 1.00
R4585:Qser1 UTSW 2 104786793 missense probably benign 0.01
R4697:Qser1 UTSW 2 104787183 missense probably benign 0.00
R4749:Qser1 UTSW 2 104787304 missense probably benign 0.16
R4775:Qser1 UTSW 2 104789901 missense probably damaging 1.00
R5010:Qser1 UTSW 2 104787831 missense possibly damaging 0.67
R5070:Qser1 UTSW 2 104787282 missense possibly damaging 0.49
R5268:Qser1 UTSW 2 104787431 missense possibly damaging 0.47
R5384:Qser1 UTSW 2 104786642 missense probably damaging 1.00
R5400:Qser1 UTSW 2 104789874 missense probably damaging 1.00
R5502:Qser1 UTSW 2 104786574 missense probably benign 0.00
R5615:Qser1 UTSW 2 104789694 missense possibly damaging 0.78
R5664:Qser1 UTSW 2 104778196 missense probably damaging 1.00
R5750:Qser1 UTSW 2 104788923 missense probably damaging 1.00
R5793:Qser1 UTSW 2 104762860 missense probably damaging 1.00
R6035:Qser1 UTSW 2 104787123 missense probably damaging 0.99
R6035:Qser1 UTSW 2 104787123 missense probably damaging 0.99
R6171:Qser1 UTSW 2 104789283 missense probably damaging 1.00
R6223:Qser1 UTSW 2 104787648 missense probably benign 0.01
R6254:Qser1 UTSW 2 104790090 missense probably benign 0.07
R6303:Qser1 UTSW 2 104762830 missense probably damaging 1.00
R6653:Qser1 UTSW 2 104780260 missense possibly damaging 0.85
R6703:Qser1 UTSW 2 104777325 missense possibly damaging 0.50
R6970:Qser1 UTSW 2 104788130 missense probably benign 0.25
R7064:Qser1 UTSW 2 104787119 missense probably damaging 1.00
R7478:Qser1 UTSW 2 104789514 missense probably damaging 1.00
R7643:Qser1 UTSW 2 104786977 nonsense probably null
R7769:Qser1 UTSW 2 104758576 missense possibly damaging 0.65
R7836:Qser1 UTSW 2 104776234 missense probably damaging 1.00
R7919:Qser1 UTSW 2 104776234 missense probably damaging 1.00
T0722:Qser1 UTSW 2 104786832 missense possibly damaging 0.49
Posted On2013-10-07