Incidental Mutation 'R1631:Qrich1'
| ID |
172801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich1
|
| Ensembl Gene |
ENSMUSG00000006673 |
| Gene Name |
glutamine-rich 1 |
| Synonyms |
2610028H07Rik, b2b2404Clo |
| MMRRC Submission |
039668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
R1631 (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 108411684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 403
(V403A)
|
| 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: V403A
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006851
Gene: ENSMUSG00000006673
AA Change: V403A
| 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: V403A
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107782
Gene: ENSMUSG00000006673
AA Change: V403A
| 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: V403A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141267
Gene: ENSMUSG00000006673
AA Change: V403A
| 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: 96.4%
- 20x: 93.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts10 |
T |
A |
17: 33,756,316 (GRCm39) |
S320T |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,257,226 (GRCm39) |
E12G |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 14,997,157 (GRCm39) |
D321V |
probably damaging |
Het |
| Atp8a1 |
T |
G |
5: 67,906,395 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,846,494 (GRCm39) |
|
probably null |
Het |
| C2cd3 |
G |
A |
7: 100,021,704 (GRCm39) |
|
probably null |
Het |
| Cdhr18 |
C |
T |
14: 13,829,796 (GRCm38) |
E649K |
probably damaging |
Het |
| Col18a1 |
G |
A |
10: 76,895,131 (GRCm39) |
P1177S |
probably damaging |
Het |
| Copb2 |
T |
A |
9: 98,462,213 (GRCm39) |
F428L |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,640,923 (GRCm39) |
E138G |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,686,249 (GRCm39) |
I12V |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,174,578 (GRCm39) |
Q967R |
possibly damaging |
Het |
| Dok2 |
T |
C |
14: 71,014,393 (GRCm39) |
Y194H |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,554,592 (GRCm39) |
M1I |
probably null |
Het |
| Fkbp8 |
T |
A |
8: 70,984,282 (GRCm39) |
L210Q |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| Gal3st2b |
T |
A |
1: 93,868,505 (GRCm39) |
D243E |
probably damaging |
Het |
| Gm5422 |
A |
G |
10: 31,125,802 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a2 |
A |
G |
9: 3,533,052 (GRCm39) |
N84D |
probably damaging |
Het |
| Hsd3b5 |
A |
C |
3: 98,529,393 (GRCm39) |
V79G |
probably damaging |
Het |
| Htr6 |
A |
T |
4: 138,788,804 (GRCm39) |
V417E |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,188,755 (GRCm39) |
V79I |
probably benign |
Het |
| Ighv10-1 |
T |
C |
12: 114,443,102 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,081,788 (GRCm39) |
F182L |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama3 |
A |
G |
18: 12,540,551 (GRCm39) |
Y285C |
probably damaging |
Het |
| Lamc2 |
C |
A |
1: 153,034,680 (GRCm39) |
V108L |
possibly damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,509,373 (GRCm39) |
|
probably null |
Het |
| Magi3 |
T |
C |
3: 103,958,493 (GRCm39) |
T531A |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,966,011 (GRCm39) |
Y32C |
probably damaging |
Het |
| Med1 |
C |
T |
11: 98,046,452 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nt5el |
C |
A |
13: 105,218,749 (GRCm39) |
Q28K |
probably benign |
Het |
| Or10a3b |
A |
C |
7: 108,445,064 (GRCm39) |
L51R |
probably damaging |
Het |
| Or51h1 |
A |
G |
7: 102,308,408 (GRCm39) |
I127V |
probably damaging |
Het |
| Or5h23 |
G |
A |
16: 58,906,408 (GRCm39) |
T146I |
probably benign |
Het |
| Or7a35 |
A |
T |
10: 78,853,239 (GRCm39) |
I28L |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,430,099 (GRCm39) |
T143A |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,593,121 (GRCm39) |
D1664G |
probably benign |
Het |
| Plod3 |
C |
T |
5: 137,017,847 (GRCm39) |
R208W |
probably damaging |
Het |
| Pstk |
G |
A |
7: 130,986,271 (GRCm39) |
A277T |
possibly damaging |
Het |
| Rad21 |
C |
A |
15: 51,833,436 (GRCm39) |
V348F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,448,181 (GRCm39) |
L3409* |
probably null |
Het |
| Setd4 |
T |
A |
16: 93,390,136 (GRCm39) |
K98* |
probably null |
Het |
| Skint5 |
A |
G |
4: 113,341,123 (GRCm39) |
V1385A |
probably benign |
Het |
| Stam |
C |
A |
2: 14,151,059 (GRCm39) |
S472* |
probably null |
Het |
| Stx2 |
A |
G |
5: 129,069,289 (GRCm39) |
F141L |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,397,330 (GRCm39) |
D101G |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,783,228 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
A |
11: 23,410,651 (GRCm39) |
N2700K |
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 |
|
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 |
|
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'- GCAGAGCATTACGCACATTGCC -3'
(R):5'- CTCAGTAGGTTACACTGGAACCAAAGG -3'
Sequencing Primer
(F):5'- CTACAATGCGGTTCATGTCAG -3'
(R):5'- CTGGAACCAAAGGAAGCAAAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation