Incidental Mutation 'R6317:Qrich1'
ID 510043
Institutional Source Beutler Lab
Gene Symbol Qrich1
Ensembl Gene ENSMUSG00000006673
Gene Name glutamine-rich 1
Synonyms 2610028H07Rik, b2b2404Clo
MMRRC Submission 044417-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R6317 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108394010-108437366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108411491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 339 (N339Y)
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 damaging
Transcript: ENSMUST00000006851
AA Change: N339Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: N339Y

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 damaging
Transcript: ENSMUST00000112155
AA Change: N339Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: N339Y

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: N339Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673
AA Change: N339Y

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194743
Meta Mutation Damage Score 0.0946 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T C 18: 70,601,264 (GRCm39) N206S probably damaging Het
Abcf2 A T 5: 24,774,156 (GRCm39) Y315* probably null Het
Adck1 T G 12: 88,368,921 (GRCm39) V133G probably damaging Het
Aoc2 T C 11: 101,216,292 (GRCm39) F125S probably damaging Het
As3mt A G 19: 46,713,410 (GRCm39) D319G probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz1a T C 12: 55,001,585 (GRCm39) Q145R possibly damaging Het
Bhlhe22 A G 3: 18,109,778 (GRCm39) E276G probably damaging Het
Cdo1 C A 18: 46,861,104 (GRCm39) V36L probably benign Het
Ces1h A G 8: 94,084,046 (GRCm39) F388S unknown Het
Col6a5 T A 9: 105,766,266 (GRCm39) N1885Y probably damaging Het
Corin A T 5: 72,496,388 (GRCm39) C522S probably damaging Het
Csmd1 G T 8: 16,760,658 (GRCm39) T159K possibly damaging Het
Cspg4b T A 13: 113,504,802 (GRCm39) L1977H probably benign Het
Cwc27 T A 13: 104,940,769 (GRCm39) K197* probably null Het
Cyp20a1 T C 1: 60,391,283 (GRCm39) S26P probably damaging Het
Daxx T A 17: 34,130,949 (GRCm39) D321E probably damaging Het
Gria2 A C 3: 80,648,311 (GRCm39) Y142D possibly damaging Het
Gspt1 T C 16: 11,041,072 (GRCm39) probably null Het
Ighv1-80 A T 12: 115,876,265 (GRCm39) V17D probably damaging Het
Ints4 T A 7: 97,178,425 (GRCm39) L675* probably null Het
Kif13a C T 13: 46,980,233 (GRCm39) R173Q probably damaging Het
Map3k2 T C 18: 32,336,086 (GRCm39) I91T probably damaging Het
Map3k8 A G 18: 4,348,979 (GRCm39) probably null Het
Mcemp1 G A 8: 3,717,284 (GRCm39) W101* probably null Het
Naca T C 10: 127,879,993 (GRCm39) I1675T probably benign Het
Nol9 T C 4: 152,125,514 (GRCm39) F155S probably damaging Het
Obscn C A 11: 58,960,721 (GRCm39) D3406Y probably damaging Het
Obsl1 A G 1: 75,466,273 (GRCm39) V1485A possibly damaging Het
Oga A T 19: 45,760,119 (GRCm39) probably null Het
Or8a1 T C 9: 37,641,725 (GRCm39) K185E possibly damaging Het
Otog C A 7: 45,950,639 (GRCm39) P337H probably damaging Het
Patl1 T C 19: 11,898,242 (GRCm39) L140P probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Pex11g G T 8: 3,514,092 (GRCm39) D23E probably damaging Het
Phactr2 A T 10: 13,137,626 (GRCm39) M172K probably damaging Het
Plce1 G A 19: 38,512,974 (GRCm39) W91* probably null Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Podn A G 4: 107,884,357 (GRCm39) F44S probably damaging Het
Polr3e A G 7: 120,527,205 (GRCm39) D87G possibly damaging Het
Prmt2 T A 10: 76,058,351 (GRCm39) I153F probably benign Het
Prpf6 T C 2: 181,273,229 (GRCm39) V258A probably benign Het
Ptpn21 G T 12: 98,655,521 (GRCm39) A482E probably damaging Het
Rabgap1 T A 2: 37,432,659 (GRCm39) V750D possibly damaging Het
Reg3d G A 6: 78,354,428 (GRCm39) P58S probably damaging Het
Rp1 A G 1: 4,112,212 (GRCm39) L1213P unknown Het
Sema6b A G 17: 56,431,047 (GRCm39) L872S probably benign Het
Serpinb7 T C 1: 107,379,436 (GRCm39) I281T probably damaging Het
Shank2 T C 7: 143,838,821 (GRCm39) V685A possibly damaging Het
Slc28a2 A G 2: 122,284,980 (GRCm39) I323V possibly damaging Het
Slc7a6 A T 8: 106,919,099 (GRCm39) I228F probably damaging Het
Slc9a9 A G 9: 94,821,512 (GRCm39) T300A possibly damaging Het
Spta1 A G 1: 174,068,653 (GRCm39) N2151S probably damaging Het
Sult2a1 T A 7: 13,569,945 (GRCm39) I96L probably benign Het
Tgm2 T C 2: 157,966,070 (GRCm39) D528G probably benign Het
Ubl7 T C 9: 57,818,456 (GRCm39) probably null Het
Vcan T A 13: 89,839,716 (GRCm39) I983L probably benign Het
Vmn1r172 T C 7: 23,359,742 (GRCm39) L209P probably damaging Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn1r3 T C 4: 3,184,993 (GRCm39) S105G probably benign Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging 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
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
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'- GTGTCTTTGAGGCCAGACTTAC -3'
(R):5'- CAGTCTGAGCCGTATTCTGG -3'

Sequencing Primer
(F):5'- CTGACAGTAGACAGTGCCC -3'
(R):5'- TGCACAGCCACTGGAATGTG -3'
Posted On 2018-04-02