Incidental Mutation 'R6211:Qrich2'
| ID |
503471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich2
|
| Ensembl Gene |
ENSMUSG00000070331 |
| Gene Name |
glutamine rich 2 |
| Synonyms |
LOC217341 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116441325-116466241 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116453542 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1759
(D1759E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093909]
[ENSMUST00000208602]
|
| AlphaFold |
Q3V2A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093909
AA Change: D14E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: D14E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Pfam:DUF4795
|
97 |
304 |
3.7e-71 |
PFAM |
|
low complexity region
|
471 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134182
|
| SMART Domains |
Protein: ENSMUSP00000115947
Gene: ENSMUSG00000070331
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MYSc
|
1 |
287 |
4e-80 |
BLAST |
|
coiled coil region
|
336 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208602
AA Change: D1759E
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406P16Rik |
A |
T |
7: 34,239,004 (GRCm38) |
H1035Q |
possibly damaging |
Het |
| Acin1 |
A |
T |
14: 54,644,046 (GRCm38) |
W391R |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 118,127,250 (GRCm38) |
S18R |
probably benign |
Het |
| Armc3 |
G |
A |
2: 19,296,803 (GRCm38) |
|
probably null |
Het |
| Casc1 |
C |
T |
6: 145,200,491 (GRCm38) |
R95Q |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,630,145 (GRCm38) |
S883* |
probably null |
Het |
| Cd300lg |
A |
G |
11: 102,054,169 (GRCm38) |
M358V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,410,821 (GRCm38) |
V949A |
possibly damaging |
Het |
| Cenpo |
C |
T |
12: 4,216,733 (GRCm38) |
S126N |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,352,677 (GRCm38) |
D1366E |
probably damaging |
Het |
| Chd4 |
A |
G |
6: 125,101,285 (GRCm38) |
E169G |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,401,477 (GRCm38) |
T24A |
possibly damaging |
Het |
| Clhc1 |
A |
G |
11: 29,578,145 (GRCm38) |
I558V |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,376,666 (GRCm38) |
R1440S |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,817,901 (GRCm38) |
|
probably benign |
Het |
| Cxcr4 |
A |
G |
1: 128,589,450 (GRCm38) |
V158A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,419,636 (GRCm38) |
M3781T |
probably damaging |
Het |
| Elovl5 |
C |
A |
9: 77,981,502 (GRCm38) |
T217K |
probably damaging |
Het |
| Fbln7 |
G |
T |
2: 128,895,340 (GRCm38) |
M358I |
probably damaging |
Het |
| Fbxl13 |
C |
T |
5: 21,484,021 (GRCm38) |
R763Q |
possibly damaging |
Het |
| Gabrr3 |
C |
A |
16: 59,448,108 (GRCm38) |
N361K |
probably benign |
Het |
| Gbp7 |
A |
G |
3: 142,545,993 (GRCm38) |
M534V |
probably benign |
Het |
| Hcar2 |
G |
A |
5: 123,864,954 (GRCm38) |
T162I |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,593,977 (GRCm38) |
L658Q |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 120,098,405 (GRCm38) |
Y1306C |
probably damaging |
Het |
| Homer3 |
C |
T |
8: 70,285,524 (GRCm38) |
R49C |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,262,939 (GRCm38) |
E702K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,091,515 (GRCm38) |
N308D |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,193,509 (GRCm38) |
T555M |
probably damaging |
Het |
| Lrfn5 |
G |
T |
12: 61,839,470 (GRCm38) |
V15L |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 66,302,710 (GRCm38) |
K493E |
possibly damaging |
Het |
| Lyzl6 |
A |
G |
11: 103,635,063 (GRCm38) |
I77T |
probably damaging |
Het |
| Mavs |
G |
T |
2: 131,240,391 (GRCm38) |
R65L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,696,269 (GRCm38) |
D1217E |
probably benign |
Het |
| Olfr103 |
A |
T |
17: 37,336,708 (GRCm38) |
F175I |
possibly damaging |
Het |
| Olfr1502 |
A |
G |
19: 13,862,574 (GRCm38) |
I260M |
probably benign |
Het |
| Olfr648 |
A |
T |
7: 104,179,747 (GRCm38) |
Y220* |
probably null |
Het |
| Otof |
C |
A |
5: 30,371,900 (GRCm38) |
V1762L |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,020,321 (GRCm38) |
L31P |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,163,952 (GRCm38) |
P515T |
probably damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,869,306 (GRCm38) |
F33Y |
probably damaging |
Het |
| Rxfp2 |
G |
A |
5: 150,044,126 (GRCm38) |
|
probably null |
Het |
| Slc23a4 |
A |
T |
6: 34,956,961 (GRCm38) |
I202N |
probably damaging |
Het |
| Slc24a5 |
A |
T |
2: 125,088,251 (GRCm38) |
I491F |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,909,049 (GRCm38) |
K625N |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,546,885 (GRCm38) |
V51A |
probably damaging |
Het |
| Sox6 |
G |
T |
7: 115,801,462 (GRCm38) |
H48Q |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,980,624 (GRCm38) |
Y114* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm38) |
G252R |
probably benign |
Het |
| Timm13 |
A |
C |
10: 80,900,480 (GRCm38) |
|
probably null |
Het |
| Tpsb2 |
G |
A |
17: 25,367,763 (GRCm38) |
A250T |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,783,128 (GRCm38) |
I131T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,665,662 (GRCm38) |
|
probably null |
Het |
| Vmn2r35 |
T |
A |
7: 7,786,528 (GRCm38) |
I737F |
probably damaging |
Het |
| Wdr46 |
C |
A |
17: 33,944,485 (GRCm38) |
T339K |
probably damaging |
Het |
|
| Other mutations in Qrich2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4449:Qrich2
|
UTSW |
11 |
116,456,199 (GRCm38) |
small deletion |
probably benign |
|
|
R0122:Qrich2
|
UTSW |
11 |
116,446,813 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0157:Qrich2
|
UTSW |
11 |
116,441,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Qrich2
|
UTSW |
11 |
116,441,485 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1786:Qrich2
|
UTSW |
11 |
116,441,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Qrich2
|
UTSW |
11 |
116,447,156 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2130:Qrich2
|
UTSW |
11 |
116,448,417 (GRCm38) |
splice site |
probably benign |
|
|
R2178:Qrich2
|
UTSW |
11 |
116,443,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3875:Qrich2
|
UTSW |
11 |
116,445,651 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4378:Qrich2
|
UTSW |
11 |
116,446,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5124:Qrich2
|
UTSW |
11 |
116,446,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5362:Qrich2
|
UTSW |
11 |
116,447,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5468:Qrich2
|
UTSW |
11 |
116,448,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5493:Qrich2
|
UTSW |
11 |
116,445,948 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5589:Qrich2
|
UTSW |
11 |
116,441,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5696:Qrich2
|
UTSW |
11 |
116,445,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6046:Qrich2
|
UTSW |
11 |
116,447,006 (GRCm38) |
intron |
probably benign |
|
|
R6183:Qrich2
|
UTSW |
11 |
116,458,129 (GRCm38) |
unclassified |
probably benign |
|
|
R6193:Qrich2
|
UTSW |
11 |
116,454,153 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6375:Qrich2
|
UTSW |
11 |
116,458,228 (GRCm38) |
unclassified |
probably benign |
|
|
R6452:Qrich2
|
UTSW |
11 |
116,455,888 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6870:Qrich2
|
UTSW |
11 |
116,455,330 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7073:Qrich2
|
UTSW |
11 |
116,446,875 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7552:Qrich2
|
UTSW |
11 |
116,456,254 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7585:Qrich2
|
UTSW |
11 |
116,455,721 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7586:Qrich2
|
UTSW |
11 |
116,455,624 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7588:Qrich2
|
UTSW |
11 |
116,465,937 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7633:Qrich2
|
UTSW |
11 |
116,456,629 (GRCm38) |
missense |
unknown |
|
|
R7638:Qrich2
|
UTSW |
11 |
116,455,322 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7736:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R7737:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R7753:Qrich2
|
UTSW |
11 |
116,457,042 (GRCm38) |
small deletion |
probably benign |
|
|
R7800:Qrich2
|
UTSW |
11 |
116,456,860 (GRCm38) |
nonsense |
probably null |
|
|
R7833:Qrich2
|
UTSW |
11 |
116,455,765 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7912:Qrich2
|
UTSW |
11 |
116,455,782 (GRCm38) |
small deletion |
probably benign |
|
|
R7923:Qrich2
|
UTSW |
11 |
116,457,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8197:Qrich2
|
UTSW |
11 |
116,457,035 (GRCm38) |
small deletion |
probably benign |
|
|
R8225:Qrich2
|
UTSW |
11 |
116,454,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8300:Qrich2
|
UTSW |
11 |
116,456,349 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8391:Qrich2
|
UTSW |
11 |
116,465,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8705:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R8792:Qrich2
|
UTSW |
11 |
116,456,630 (GRCm38) |
missense |
unknown |
|
|
R8912:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9025:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9121:Qrich2
|
UTSW |
11 |
116,456,446 (GRCm38) |
missense |
unknown |
|
|
R9130:Qrich2
|
UTSW |
11 |
116,456,866 (GRCm38) |
nonsense |
probably null |
|
|
R9219:Qrich2
|
UTSW |
11 |
116,445,074 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R9254:Qrich2
|
UTSW |
11 |
116,458,108 (GRCm38) |
missense |
unknown |
|
|
R9256:Qrich2
|
UTSW |
11 |
116,465,624 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9288:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9379:Qrich2
|
UTSW |
11 |
116,458,108 (GRCm38) |
missense |
unknown |
|
|
R9448:Qrich2
|
UTSW |
11 |
116,447,265 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9521:Qrich2
|
UTSW |
11 |
116,448,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9620:Qrich2
|
UTSW |
11 |
116,447,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9631:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9639:Qrich2
|
UTSW |
11 |
116,456,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9694:Qrich2
|
UTSW |
11 |
116,447,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Qrich2
|
UTSW |
11 |
116,456,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Qrich2
|
UTSW |
11 |
116,456,668 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGTAGCCTGCCAGTCTC -3'
(R):5'- TTCTGAGCAAAGGGTTCTGG -3'
Sequencing Primer
(F):5'- CCGTGAAGGGCTAATCTTCTC -3'
(R):5'- CAAAGGGTTCTGGGCAGTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation