Incidental Mutation 'R4539:Qrich1'
ID |
333458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qrich1
|
Ensembl Gene |
ENSMUSG00000006673 |
Gene Name |
glutamine-rich 1 |
Synonyms |
2610028H07Rik, b2b2404Clo |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.916)
|
Stock # |
R4539 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108394010-108437366 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108411399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 308
(E308G)
|
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: E308G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000006851 Gene: ENSMUSG00000006673 AA Change: E308G
Domain | Start | End | E-Value | Type |
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: E308G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107782 Gene: ENSMUSG00000006673 AA Change: E308G
Domain | Start | End | E-Value | Type |
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: E308G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141267 Gene: ENSMUSG00000006673 AA Change: E308G
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,765,793 (GRCm39) |
T702A |
probably benign |
Het |
Alms1 |
C |
T |
6: 85,597,460 (GRCm39) |
T762I |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,497,070 (GRCm39) |
M465T |
probably benign |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Camta1 |
T |
C |
4: 151,169,269 (GRCm39) |
I161V |
probably benign |
Het |
Cpeb4 |
G |
A |
11: 31,823,206 (GRCm39) |
G307S |
probably damaging |
Het |
Eps8l1 |
T |
C |
7: 4,481,623 (GRCm39) |
V707A |
probably damaging |
Het |
Espn |
G |
A |
4: 152,218,665 (GRCm39) |
Q473* |
probably null |
Het |
Fut9 |
A |
T |
4: 25,619,793 (GRCm39) |
H340Q |
probably damaging |
Het |
Gm11554 |
A |
T |
11: 99,695,186 (GRCm39) |
|
probably benign |
Het |
Hcar2 |
A |
G |
5: 124,002,793 (GRCm39) |
F237L |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,452,970 (GRCm39) |
C492* |
probably null |
Het |
Lrrk2 |
C |
T |
15: 91,613,345 (GRCm39) |
P823L |
possibly damaging |
Het |
Luzp2 |
A |
T |
7: 54,713,037 (GRCm39) |
Q91L |
probably damaging |
Het |
Mapkapk5 |
T |
A |
5: 121,675,218 (GRCm39) |
H117L |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,276,478 (GRCm39) |
L1209P |
probably damaging |
Het |
Myo3b |
T |
G |
2: 69,869,491 (GRCm39) |
M1R |
probably null |
Het |
Nacad |
A |
T |
11: 6,550,677 (GRCm39) |
V838E |
possibly damaging |
Het |
Neurl1a |
T |
A |
19: 47,245,183 (GRCm39) |
S458T |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,470 (GRCm39) |
D874G |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,484,915 (GRCm39) |
T292A |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,219,699 (GRCm39) |
Y1003H |
probably damaging |
Het |
Ppih |
A |
G |
4: 119,177,656 (GRCm39) |
S6P |
probably benign |
Het |
Setx |
A |
G |
2: 29,069,760 (GRCm39) |
T2522A |
probably benign |
Het |
Slc26a8 |
A |
T |
17: 28,878,591 (GRCm39) |
M332K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,255,514 (GRCm39) |
V745A |
probably benign |
Het |
Swi5 |
T |
C |
2: 32,169,092 (GRCm39) |
N118S |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 35,937,607 (GRCm39) |
T1689A |
probably damaging |
Het |
Ttll9 |
C |
T |
2: 152,836,011 (GRCm39) |
R252C |
probably damaging |
Het |
Vars2 |
T |
A |
17: 35,977,780 (GRCm39) |
E80V |
probably damaging |
Het |
Zbtb39 |
G |
A |
10: 127,578,061 (GRCm39) |
D212N |
possibly damaging |
Het |
Zfp418 |
C |
A |
7: 7,184,276 (GRCm39) |
Q80K |
probably benign |
Het |
Zscan25 |
A |
G |
5: 145,225,201 (GRCm39) |
D259G |
probably benign |
Het |
|
Other mutations in Qrich1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- AGTGGACATGCCTATCACCG -3'
(R):5'- GAGAGTTTGCAAGGGTCTGC -3'
Sequencing Primer
(F):5'- GTGTCCTACGCCATCTCAGG -3'
(R):5'- TTGCAAGGGTCTGCACTAC -3'
|
Posted On |
2015-08-18 |