Incidental Mutation 'R6470:Qrich1'
ID 516484
Institutional Source Beutler Lab
Gene Symbol Qrich1
Ensembl Gene ENSMUSG00000006673
Gene Name glutamine-rich 1
Synonyms 2610028H07Rik, b2b2404Clo
MMRRC Submission 044603-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R6470 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108394010-108437366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108411717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 414 (V414A)
Ref Sequence ENSEMBL: ENSMUSP00000141267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006851] [ENSMUST00000112155] [ENSMUST00000193258] [ENSMUST00000194385] [ENSMUST00000194741] [ENSMUST00000195563]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006851
AA Change: V414A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: V414A

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: ENSMUST00000112155
AA Change: V414A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: V414A

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 noncoding transcript
Transcript: ENSMUST00000193127
Predicted Effect probably damaging
Transcript: ENSMUST00000193258
AA Change: V414A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673
AA Change: V414A

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 9e-3 SMART
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
Predicted Effect probably benign
Transcript: ENSMUST00000194385
SMART Domains Protein: ENSMUSP00000142211
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1cy5a_ 9 45 8e-3 SMART
low complexity region 79 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194741
SMART Domains Protein: ENSMUSP00000142233
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 4e-3 SMART
low complexity region 80 119 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194743
Predicted Effect probably benign
Transcript: ENSMUST00000195563
SMART Domains Protein: ENSMUSP00000141716
Gene: ENSMUSG00000006673

DomainStartEndE-ValueType
SCOP:d1dgna_ 7 48 9e-3 SMART
low complexity region 79 123 N/A INTRINSIC
low complexity region 128 146 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (45/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G T 8: 88,290,656 (GRCm39) V5L probably benign Het
Bptf A G 11: 106,963,593 (GRCm39) V1804A probably damaging Het
Brinp3 A G 1: 146,777,644 (GRCm39) D697G probably damaging Het
Carns1 T C 19: 4,221,782 (GRCm39) T158A possibly damaging Het
Cd300lg A G 11: 101,941,331 (GRCm39) N244S possibly damaging Het
Ces3b A T 8: 105,815,285 (GRCm39) Q12L possibly damaging Het
Chd9 A G 8: 91,659,426 (GRCm39) T129A probably damaging Het
Clca3a2 T A 3: 144,510,024 (GRCm39) probably null Het
Cubn G T 2: 13,327,804 (GRCm39) R2674S possibly damaging Het
Cyp2b10 T C 7: 25,611,081 (GRCm39) I146T possibly damaging Het
Cyp4v3 C T 8: 45,770,773 (GRCm39) W244* probably null Het
Dnah6 T A 6: 73,051,569 (GRCm39) D3075V probably damaging Het
Dpy19l2 A T 9: 24,572,039 (GRCm39) I327N possibly damaging Het
Dst T A 1: 34,334,318 (GRCm39) F4849I probably damaging Het
Dysf A G 6: 84,043,926 (GRCm39) I256V possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Garin5b T C 7: 4,760,850 (GRCm39) T621A probably benign Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Gm9936 T C 5: 114,995,482 (GRCm39) probably benign Het
Gria4 A G 9: 4,503,680 (GRCm39) F312S probably damaging Het
Ifna2 T C 4: 88,601,751 (GRCm39) N89S probably benign Het
Il17rb A G 14: 29,724,866 (GRCm39) S207P probably benign Het
Itga9 A T 9: 118,726,335 (GRCm39) I430F probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ltk A T 2: 119,583,516 (GRCm39) probably null Het
Nat8l C T 5: 34,155,836 (GRCm39) T164M probably damaging Het
Nrf1 A G 6: 30,102,199 (GRCm39) D166G probably damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Or10a4 T C 7: 106,696,951 (GRCm39) I93T probably damaging Het
Phlpp2 A G 8: 110,663,826 (GRCm39) D955G probably benign Het
Pianp T A 6: 124,976,232 (GRCm39) probably benign Het
Plin2 G T 4: 86,586,607 (GRCm39) Q75K probably damaging Het
Ros1 A G 10: 52,042,140 (GRCm39) probably null Het
Sardh C T 2: 27,134,384 (GRCm39) R44Q probably damaging Het
Scaf4 C T 16: 90,026,526 (GRCm39) W1072* probably null Het
Sh3rf3 A G 10: 58,819,791 (GRCm39) K201E probably damaging Het
Shprh G T 10: 11,047,681 (GRCm39) A1010S probably damaging Het
Slc35d1 A G 4: 103,047,019 (GRCm39) S260P probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Sptb A G 12: 76,659,603 (GRCm39) L1099P probably damaging Het
Srrt T C 5: 137,300,918 (GRCm39) D90G probably damaging Het
Syt10 T C 15: 89,676,804 (GRCm39) D394G probably damaging Het
Tlr3 T C 8: 45,850,422 (GRCm39) D301G probably damaging Het
Ubr3 T A 2: 69,795,804 (GRCm39) M916K 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
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
R8158:Qrich1 UTSW 9 108,433,236 (GRCm39) missense probably damaging 0.99
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'- TCATGTCAGTGGCTCACCTAC -3'
(R):5'- TCAGACACTACAGGTACTCAGTAG -3'

Sequencing Primer
(F):5'- CCCTGGCAGCTGTAAAGC -3'
(R):5'- GTACTCAGTAGGTTACACTGGAACC -3'
Posted On 2018-05-21