Incidental Mutation 'R8158:Qrich1'
ID 633374
Institutional Source Beutler Lab
Gene Symbol Qrich1
Ensembl Gene ENSMUSG00000006673
Gene Name glutamine-rich 1
Synonyms 2610028H07Rik, b2b2404Clo
MMRRC Submission 067584-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R8158 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108394010-108437366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108433236 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
Abl2 T A 1: 156,469,639 (GRCm39) S968T probably benign Het
Adcy8 T C 15: 64,655,655 (GRCm39) D608G probably benign Het
Adgb C T 10: 10,254,478 (GRCm39) V1162M probably benign Het
Agrn A G 4: 156,258,346 (GRCm39) V1040A probably benign Het
Amer3 A T 1: 34,626,741 (GRCm39) T327S possibly damaging Het
Apaf1 C T 10: 90,895,520 (GRCm39) C426Y probably benign Het
Bsn T C 9: 107,987,232 (GRCm39) D2840G unknown Het
Camsap1 A T 2: 25,834,440 (GRCm39) C406* probably null Het
Cbr2 A T 11: 120,621,123 (GRCm39) M158K probably damaging Het
Cgrrf1 T C 14: 47,091,192 (GRCm39) S239P probably benign Het
Clnk C A 5: 38,952,254 (GRCm39) probably null Het
Csad T C 15: 102,086,197 (GRCm39) M445V probably damaging Het
Dnajb7 T A 15: 81,291,600 (GRCm39) N246Y probably damaging Het
Dok6 T C 18: 89,492,071 (GRCm39) I169V probably benign Het
H2bc14 T C 13: 21,906,631 (GRCm39) Y122H probably benign Het
Il1f10 T G 2: 24,181,267 (GRCm39) I11R possibly damaging Het
Irs1 C T 1: 82,267,254 (GRCm39) V321M probably damaging Het
Itga9 T C 9: 118,706,211 (GRCm39) F938L probably damaging Het
Kif7 T C 7: 79,354,442 (GRCm39) D781G probably damaging Het
Klhl41 A T 2: 69,501,505 (GRCm39) N322I probably damaging Het
Krtap31-1 T G 11: 99,798,901 (GRCm39) C35G possibly damaging Het
Lsm11 A T 11: 45,824,824 (GRCm39) D234E probably benign Het
Med6 T C 12: 81,620,677 (GRCm39) K223R probably benign Het
Mfsd4b2 G A 10: 39,798,064 (GRCm39) T97I probably benign Het
Mrgpra1 A T 7: 46,985,204 (GRCm39) C158* probably null Het
Nr2e1 T C 10: 42,458,881 (GRCm39) T8A probably benign Het
Oas2 T C 5: 120,887,838 (GRCm39) M1V probably null Het
Or13a27 T C 7: 139,925,162 (GRCm39) I247V probably benign Het
Or14a260 T A 7: 85,984,885 (GRCm39) I240F probably benign Het
Or1e33 T A 11: 73,738,697 (GRCm39) M85L probably benign Het
Or8k17 T C 2: 86,066,504 (GRCm39) Y218C probably damaging Het
Or8w1 T A 2: 87,465,233 (GRCm39) N286I probably damaging Het
Otof C T 5: 30,537,538 (GRCm39) G1257D probably benign Het
Phf2 T C 13: 48,971,236 (GRCm39) T479A probably benign Het
Pik3c2a T C 7: 115,942,232 (GRCm39) N1516S probably benign Het
Rasip1 A G 7: 45,281,943 (GRCm39) K482R probably damaging Het
Rgl2 T C 17: 34,155,918 (GRCm39) F698L probably benign Het
Scarb1 T C 5: 125,380,201 (GRCm39) D124G probably benign Het
Sclt1 A G 3: 41,625,917 (GRCm39) I350T probably benign Het
Sec23ip T G 7: 128,369,364 (GRCm39) V696G probably damaging Het
Serpina1e G T 12: 103,917,354 (GRCm39) T105K probably benign Het
Sin3a A G 9: 57,020,828 (GRCm39) probably null Het
Slc34a2 A G 5: 53,218,182 (GRCm39) T154A probably damaging Het
Slc9a3 T C 13: 74,303,241 (GRCm39) L178P probably damaging Het
Smarca2 A C 19: 26,659,448 (GRCm39) I913L probably benign Het
Spaca7b T A 8: 11,715,056 (GRCm39) D46V probably damaging Het
Tcea3 G A 4: 136,001,027 (GRCm39) probably null Het
Tektl1 G C 10: 78,584,509 (GRCm39) Q338E probably benign Het
Tmcc1 T A 6: 116,020,435 (GRCm39) H339L Het
Trpm2 G T 10: 77,783,731 (GRCm39) H247Q probably damaging Het
Tyr T A 7: 87,121,724 (GRCm39) D356V probably damaging Het
Vmn2r54 A T 7: 12,349,888 (GRCm39) C565S probably damaging Het
Vmn2r82 A C 10: 79,213,636 (GRCm39) N74T probably benign Het
Zcchc4 T C 5: 52,973,260 (GRCm39) Y375H probably damaging Het
Zfhx3 T A 8: 109,675,353 (GRCm39) D2134E possibly damaging Het
Zfhx4 T A 3: 5,464,010 (GRCm39) Y1414* probably null Het
Zfp282 A T 6: 47,867,626 (GRCm39) E267D possibly damaging Het
Zfp442 A T 2: 150,251,096 (GRCm39) C269S possibly damaging Het
Zp3 T A 5: 136,014,418 (GRCm39) S246T probably benign Het
Other mutations in Qrich1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03136:Qrich1 APN 9 108,422,117 (GRCm39) missense probably damaging 1.00
R0240:Qrich1 UTSW 9 108,411,333 (GRCm39) missense probably damaging 1.00
R0240:Qrich1 UTSW 9 108,411,333 (GRCm39) missense probably damaging 1.00
R0586:Qrich1 UTSW 9 108,411,719 (GRCm39) missense probably damaging 0.98
R0648:Qrich1 UTSW 9 108,422,076 (GRCm39) missense probably damaging 1.00
R1460:Qrich1 UTSW 9 108,410,846 (GRCm39) unclassified probably benign
R1478:Qrich1 UTSW 9 108,436,531 (GRCm39) missense probably benign 0.02
R1631:Qrich1 UTSW 9 108,411,684 (GRCm39) missense probably damaging 0.99
R1964:Qrich1 UTSW 9 108,411,621 (GRCm39) missense possibly damaging 0.92
R1984:Qrich1 UTSW 9 108,411,246 (GRCm39) missense probably damaging 0.99
R2054:Qrich1 UTSW 9 108,436,469 (GRCm39) missense possibly damaging 0.92
R4539:Qrich1 UTSW 9 108,411,399 (GRCm39) missense probably damaging 1.00
R5031:Qrich1 UTSW 9 108,418,935 (GRCm39) missense possibly damaging 0.70
R5353:Qrich1 UTSW 9 108,422,164 (GRCm39) missense probably damaging 1.00
R5510:Qrich1 UTSW 9 108,433,659 (GRCm39) missense possibly damaging 0.69
R5604:Qrich1 UTSW 9 108,436,502 (GRCm39) unclassified probably benign
R5718:Qrich1 UTSW 9 108,406,022 (GRCm39) missense probably damaging 1.00
R5743:Qrich1 UTSW 9 108,411,314 (GRCm39) missense probably damaging 1.00
R5853:Qrich1 UTSW 9 108,410,807 (GRCm39) unclassified probably benign
R6317:Qrich1 UTSW 9 108,411,491 (GRCm39) missense probably damaging 1.00
R6470:Qrich1 UTSW 9 108,411,717 (GRCm39) missense probably damaging 0.98
R6552:Qrich1 UTSW 9 108,411,504 (GRCm39) missense possibly damaging 0.61
R6671:Qrich1 UTSW 9 108,410,985 (GRCm39) missense probably benign 0.03
R6858:Qrich1 UTSW 9 108,411,333 (GRCm39) missense probably damaging 1.00
R7453:Qrich1 UTSW 9 108,433,675 (GRCm39) missense possibly damaging 0.93
R7842:Qrich1 UTSW 9 108,433,567 (GRCm39) splice site probably null
R7879:Qrich1 UTSW 9 108,436,485 (GRCm39) missense possibly damaging 0.92
R8073:Qrich1 UTSW 9 108,411,627 (GRCm39) missense possibly damaging 0.56
R8241:Qrich1 UTSW 9 108,433,760 (GRCm39) critical splice donor site probably null
R8875:Qrich1 UTSW 9 108,436,502 (GRCm39) unclassified probably benign
R9532:Qrich1 UTSW 9 108,411,519 (GRCm39) missense probably benign 0.36
R9795:Qrich1 UTSW 9 108,411,089 (GRCm39) missense probably benign 0.18
Z1177:Qrich1 UTSW 9 108,411,668 (GRCm39) 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 On 2020-06-30