Incidental Mutation 'R1984:Qrich1'
ID |
220344 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qrich1
|
Ensembl Gene |
ENSMUSG00000006673 |
Gene Name |
glutamine-rich 1 |
Synonyms |
2610028H07Rik, b2b2404Clo |
MMRRC Submission |
039996-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.921)
|
Stock # |
R1984 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108394010-108437366 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108411246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 257
(V257A)
|
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 |
possibly damaging
Transcript: ENSMUST00000006851
AA Change: V257A
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000006851 Gene: ENSMUSG00000006673 AA Change: V257A
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 |
possibly damaging
Transcript: ENSMUST00000112155
AA Change: V257A
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000107782 Gene: ENSMUSG00000006673 AA Change: V257A
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: V257A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141267 Gene: ENSMUSG00000006673 AA Change: V257A
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
T |
6: 124,324,778 (GRCm39) |
L81H |
probably damaging |
Het |
Abca8b |
A |
G |
11: 109,868,667 (GRCm39) |
C166R |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,671,868 (GRCm39) |
E2242D |
probably damaging |
Het |
Agap1 |
T |
C |
1: 89,694,045 (GRCm39) |
S448P |
probably benign |
Het |
Aldh1a2 |
T |
C |
9: 71,160,334 (GRCm39) |
L120P |
probably damaging |
Het |
Alkbh2 |
T |
C |
5: 114,262,115 (GRCm39) |
N205S |
probably benign |
Het |
Anapc1 |
C |
A |
2: 128,511,608 (GRCm39) |
G493C |
possibly damaging |
Het |
Aox3 |
A |
T |
1: 58,192,220 (GRCm39) |
I497F |
possibly damaging |
Het |
Atp2b1 |
T |
C |
10: 98,850,354 (GRCm39) |
S826P |
possibly damaging |
Het |
Atp8b4 |
T |
A |
2: 126,164,928 (GRCm39) |
R1129S |
probably damaging |
Het |
Bche |
T |
A |
3: 73,609,159 (GRCm39) |
Q89L |
probably benign |
Het |
Bche |
G |
T |
3: 73,609,160 (GRCm39) |
Q89K |
probably benign |
Het |
Bcl9 |
T |
C |
3: 97,121,050 (GRCm39) |
K171E |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,538,998 (GRCm39) |
Y1488N |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
Dok6 |
T |
C |
18: 89,578,234 (GRCm39) |
E61G |
probably damaging |
Het |
Duxf4 |
T |
A |
10: 58,071,785 (GRCm39) |
Q143L |
possibly damaging |
Het |
Esf1 |
A |
T |
2: 139,990,806 (GRCm39) |
D559E |
possibly damaging |
Het |
F11r |
A |
G |
1: 171,289,438 (GRCm39) |
I254V |
probably benign |
Het |
Fkrp |
A |
G |
7: 16,545,802 (GRCm39) |
V20A |
probably benign |
Het |
Fscb |
T |
C |
12: 64,521,457 (GRCm39) |
E3G |
unknown |
Het |
Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
Hspa4l |
T |
C |
3: 40,714,833 (GRCm39) |
V156A |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,889,782 (GRCm39) |
S2422P |
probably benign |
Het |
Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
Isg15 |
T |
C |
4: 156,284,250 (GRCm39) |
I93V |
probably benign |
Het |
Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
Marchf6 |
A |
T |
15: 31,469,792 (GRCm39) |
L726Q |
probably damaging |
Het |
Megf6 |
G |
T |
4: 154,352,124 (GRCm39) |
G1210C |
probably damaging |
Het |
Msh2 |
C |
T |
17: 88,026,724 (GRCm39) |
T740I |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,288,446 (GRCm39) |
Y514C |
probably damaging |
Het |
Myorg |
C |
A |
4: 41,497,501 (GRCm39) |
A710S |
possibly damaging |
Het |
Nedd1 |
T |
C |
10: 92,550,022 (GRCm39) |
T88A |
possibly damaging |
Het |
Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
Obox1 |
A |
T |
7: 15,289,135 (GRCm39) |
I17L |
probably benign |
Het |
Or11g24 |
A |
T |
14: 50,662,848 (GRCm39) |
I291L |
possibly damaging |
Het |
Palb2 |
A |
C |
7: 121,726,303 (GRCm39) |
H522Q |
probably damaging |
Het |
Pde4c |
C |
T |
8: 71,177,191 (GRCm39) |
T6M |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,908,181 (GRCm39) |
K97E |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rpl14 |
A |
G |
9: 120,401,253 (GRCm39) |
D32G |
possibly damaging |
Het |
Senp8 |
A |
G |
9: 59,644,721 (GRCm39) |
V132A |
possibly damaging |
Het |
Serac1 |
A |
G |
17: 6,095,964 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
T |
A |
2: 32,639,256 (GRCm39) |
C295* |
probably null |
Het |
Stab1 |
A |
G |
14: 30,872,605 (GRCm39) |
F1142L |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tg |
A |
G |
15: 66,554,691 (GRCm39) |
E702G |
probably benign |
Het |
Tgif2lx2 |
A |
T |
X: 117,337,690 (GRCm39) |
K218* |
probably null |
Het |
Tpp1 |
C |
A |
7: 105,400,905 (GRCm39) |
V41L |
probably benign |
Het |
Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp683 |
T |
C |
4: 133,784,766 (GRCm39) |
F338L |
probably damaging |
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 |
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 |
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'- AGTTGGTAGCTGGCCAATCTC -3'
(R):5'- GCAATGTGCGTAATGCTCTGC -3'
Sequencing Primer
(F):5'- GTAGCTGGCCAATCTCTTGCTG -3'
(R):5'- AATGCTCTGCTGCTGAGGATCC -3'
|
Posted On |
2014-08-25 |