Incidental Mutation 'IGL00417:Qser1'
ID 7102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qser1
Ensembl Gene ENSMUSG00000074994
Gene Name glutamine and serine rich 1
Synonyms 4732486I23Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.622) question?
Stock # IGL00417
Quality Score
Status
Chromosome 2
Chromosomal Location 104585140-104647105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104617248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1188 (I1188N)
Ref Sequence ENSEMBL: ENSMUSP00000155882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117237] [ENSMUST00000231375]
AlphaFold A0A338P6K9
Predicted Effect probably damaging
Transcript: ENSMUST00000117237
AA Change: I1098N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: I1098N

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: I1188N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,022,982 (GRCm39) I39M probably benign Het
Acoxl G A 2: 127,820,724 (GRCm39) C92Y probably damaging Het
Actl6b G T 5: 137,552,899 (GRCm39) R76L probably damaging Het
Afg2a A G 3: 37,505,951 (GRCm39) I677V possibly damaging Het
Ank T C 15: 27,544,437 (GRCm39) M66T possibly damaging Het
C6 C T 15: 4,789,449 (GRCm39) A298V possibly damaging Het
Clip4 A T 17: 72,156,937 (GRCm39) N591Y probably damaging Het
Cntnap5b T C 1: 99,978,479 (GRCm39) I165T probably damaging Het
Dennd1b G A 1: 138,990,678 (GRCm39) R214H probably damaging Het
Eri2 G A 7: 119,386,964 (GRCm39) T185I probably benign Het
Fbxo33 A G 12: 59,249,456 (GRCm39) V476A probably damaging Het
Fer1l4 G A 2: 155,861,840 (GRCm39) R1826* probably null Het
Fyb1 A T 15: 6,610,258 (GRCm39) K277I probably damaging Het
Gli3 C A 13: 15,818,884 (GRCm39) H229N probably damaging Het
Hmcn1 T C 1: 150,553,029 (GRCm39) I2554V probably benign Het
Maml2 A T 9: 13,532,900 (GRCm39) probably benign Het
Map4k4 T C 1: 40,053,692 (GRCm39) F930L possibly damaging Het
Mmadhc T C 2: 50,179,043 (GRCm39) D125G probably benign Het
Nipbl A G 15: 8,396,157 (GRCm39) S139P probably damaging Het
Obscn A G 11: 58,897,614 (GRCm39) L6647P unknown Het
Ppara C A 15: 85,685,268 (GRCm39) H406N probably benign Het
Psg27 T A 7: 18,295,842 (GRCm39) H201L probably benign Het
Rc3h1 T C 1: 160,783,551 (GRCm39) probably null Het
Septin2 C T 1: 93,426,864 (GRCm39) H158Y probably damaging Het
Snx9 C A 17: 5,942,172 (GRCm39) Q100K probably benign Het
Thnsl2 G A 6: 71,108,884 (GRCm39) T309I probably damaging Het
Thsd7b A G 1: 129,523,571 (GRCm39) R125G probably damaging Het
Tmem62 T G 2: 120,837,445 (GRCm39) probably null Het
Tnpo3 A T 6: 29,578,460 (GRCm39) probably null Het
Trpc6 A T 9: 8,680,439 (GRCm39) D889V probably damaging Het
Tubgcp6 C A 15: 88,988,211 (GRCm39) V913L probably benign Het
Uox A T 3: 146,333,565 (GRCm39) M255L 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
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
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
Posted On 2012-04-20