Incidental Mutation 'R8158:Qrich1'
ID633374
Institutional Source Beutler Lab
Gene Symbol Qrich1
Ensembl Gene ENSMUSG00000006673
Gene Nameglutamine-rich 1
Synonyms2610028H07Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.925) question?
Stock #R8158 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location108516806-108560163 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108556037 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 622 (T622K)
Ref Sequence ENSEMBL: ENSMUSP00000006851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006851] [ENSMUST00000081111] [ENSMUST00000112155] [ENSMUST00000193421]
Predicted Effect probably damaging
Transcript: ENSMUST00000006851
AA Change: T622K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: T622K

DomainStartEndE-ValueType
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Pfam:DUF3504 597 761 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081111
SMART Domains Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 28 504 7.39e-260 SMART
CBS 117 168 9.4e-7 SMART
CBS 184 232 1.57e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112155
AA Change: T622K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: T622K

DomainStartEndE-ValueType
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
low complexity region 419 443 N/A INTRINSIC
low complexity region 457 478 N/A INTRINSIC
Pfam:DUF3504 600 760 2.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193421
SMART Domains Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 28 248 1.3e-18 SMART
CBS 92 143 4.5e-9 SMART
CBS 159 207 7.6e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including overriding aorta, double outlet right ventricle with atrioventricular septal defects and ventricular non-compaction, as well as cleft palate, cystic kidneys, and thymus hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016D06Rik T A 8: 11,665,056 D46V probably damaging Het
Abl2 T A 1: 156,642,069 S968T probably benign Het
Adcy8 T C 15: 64,783,806 D608G probably benign Het
Adgb C T 10: 10,378,734 V1162M probably benign Het
Agrn A G 4: 156,173,889 V1040A probably benign Het
Amer3 A T 1: 34,587,660 T327S possibly damaging Het
Apaf1 C T 10: 91,059,658 C426Y probably benign Het
Bsn T C 9: 108,110,033 D2840G unknown Het
Camsap1 A T 2: 25,944,428 C406* probably null Het
Cbr2 A T 11: 120,730,297 M158K probably damaging Het
Ccdc105 G C 10: 78,748,675 Q338E probably benign Het
Cgrrf1 T C 14: 46,853,735 S239P probably benign Het
Clnk C A 5: 38,794,911 probably null Het
Csad T C 15: 102,177,762 M445V probably damaging Het
Dnajb7 T A 15: 81,407,399 N246Y probably damaging Het
Dok6 T C 18: 89,473,947 I169V probably benign Het
Hist1h2bm T C 13: 21,722,461 Y122H probably benign Het
Il1f10 T G 2: 24,291,255 I11R possibly damaging Het
Irs1 C T 1: 82,289,533 V321M probably damaging Het
Itga9 T C 9: 118,877,143 F938L probably damaging Het
Kif7 T C 7: 79,704,694 D781G probably damaging Het
Klhl41 A T 2: 69,671,161 N322I probably damaging Het
Krtap31-1 T G 11: 99,908,075 C35G possibly damaging Het
Lsm11 A T 11: 45,933,997 D234E probably benign Het
Med6 T C 12: 81,573,903 K223R probably benign Het
Mfsd4b2 G A 10: 39,922,068 T97I probably benign Het
Mrgpra1 A T 7: 47,335,456 C158* probably null Het
Nr2e1 T C 10: 42,582,885 T8A probably benign Het
Oas2 T C 5: 120,749,773 M1V probably null Het
Olfr1048 T C 2: 86,236,160 Y218C probably damaging Het
Olfr1132 T A 2: 87,634,889 N286I probably damaging Het
Olfr307 T A 7: 86,335,677 I240F probably benign Het
Olfr393 T A 11: 73,847,871 M85L probably benign Het
Olfr60 T C 7: 140,345,249 I247V probably benign Het
Otof C T 5: 30,380,194 G1257D probably benign Het
Phf2 T C 13: 48,817,760 T479A probably benign Het
Pik3c2a T C 7: 116,342,997 N1516S probably benign Het
Rasip1 A G 7: 45,632,519 K482R probably damaging Het
Rgl2 T C 17: 33,936,944 F698L probably benign Het
Scarb1 T C 5: 125,303,137 D124G probably benign Het
Sclt1 A G 3: 41,671,482 I350T probably benign Het
Sec23ip T G 7: 128,767,640 V696G probably damaging Het
Serpina1e G T 12: 103,951,095 T105K probably benign Het
Sin3a A G 9: 57,113,544 probably null Het
Slc34a2 A G 5: 53,060,840 T154A probably damaging Het
Slc9a3 T C 13: 74,155,122 L178P probably damaging Het
Smarca2 A C 19: 26,682,048 I913L probably benign Het
Tcea3 G A 4: 136,273,716 probably null Het
Tmcc1 T A 6: 116,043,474 H339L Het
Trpm2 G T 10: 77,947,897 H247Q probably damaging Het
Tyr T A 7: 87,472,516 D356V probably damaging Het
Vmn2r54 A T 7: 12,615,961 C565S probably damaging Het
Vmn2r82 A C 10: 79,377,802 N74T probably benign Het
Zcchc4 T C 5: 52,815,918 Y375H probably damaging Het
Zfhx3 T A 8: 108,948,721 D2134E possibly damaging Het
Zfhx4 T A 3: 5,398,950 Y1414* probably null Het
Zfp282 A T 6: 47,890,692 E267D possibly damaging Het
Zfp442 A T 2: 150,409,176 C269S possibly damaging Het
Zp3 T A 5: 135,985,564 S246T probably benign Het
Other mutations in Qrich1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03136:Qrich1 APN 9 108544918 missense probably damaging 1.00
R0240:Qrich1 UTSW 9 108534134 missense probably damaging 1.00
R0240:Qrich1 UTSW 9 108534134 missense probably damaging 1.00
R0586:Qrich1 UTSW 9 108534520 missense probably damaging 0.98
R0648:Qrich1 UTSW 9 108544877 missense probably damaging 1.00
R1460:Qrich1 UTSW 9 108533647 unclassified probably benign
R1478:Qrich1 UTSW 9 108559332 missense probably benign 0.02
R1631:Qrich1 UTSW 9 108534485 missense probably damaging 0.99
R1964:Qrich1 UTSW 9 108534422 missense possibly damaging 0.92
R1984:Qrich1 UTSW 9 108534047 missense probably damaging 0.99
R2054:Qrich1 UTSW 9 108559270 missense possibly damaging 0.92
R4539:Qrich1 UTSW 9 108534200 missense probably damaging 1.00
R5031:Qrich1 UTSW 9 108541736 missense possibly damaging 0.70
R5353:Qrich1 UTSW 9 108544965 missense probably damaging 1.00
R5510:Qrich1 UTSW 9 108556460 missense possibly damaging 0.69
R5604:Qrich1 UTSW 9 108559303 splice site probably null
R5718:Qrich1 UTSW 9 108528823 missense probably damaging 1.00
R5743:Qrich1 UTSW 9 108534115 missense probably damaging 1.00
R5853:Qrich1 UTSW 9 108533608 unclassified probably benign
R6317:Qrich1 UTSW 9 108534292 missense probably damaging 1.00
R6470:Qrich1 UTSW 9 108534518 missense probably damaging 0.98
R6552:Qrich1 UTSW 9 108534305 missense possibly damaging 0.61
R6671:Qrich1 UTSW 9 108533786 missense probably benign 0.03
R6858:Qrich1 UTSW 9 108534134 missense probably damaging 1.00
R7453:Qrich1 UTSW 9 108556476 missense possibly damaging 0.93
R7842:Qrich1 UTSW 9 108556368 splice site probably null
R7879:Qrich1 UTSW 9 108559286 missense possibly damaging 0.92
R8073:Qrich1 UTSW 9 108534428 missense possibly damaging 0.56
R8241:Qrich1 UTSW 9 108556561 critical splice donor site probably null
Z1177:Qrich1 UTSW 9 108534469 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCAGATTAAGAATGTCCCTG -3'
(R):5'- CCTATCAACACAGACTGAAGGGG -3'

Sequencing Primer
(F):5'- AAGAATGTCCCTGTGTAGTCC -3'
(R):5'- GGCAAGGCTGTTTGTCCCTTAC -3'
Posted On2020-06-30