Incidental Mutation 'R5362:Qrich2'
| ID |
422893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich2
|
| Ensembl Gene |
ENSMUSG00000070331 |
| Gene Name |
glutamine rich 2 |
| Synonyms |
LOC217341 |
| MMRRC Submission |
043264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5362 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116332151-116357067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116337976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1889
(Y1889C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093909]
[ENSMUST00000208602]
|
| AlphaFold |
Q3V2A7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093909
AA Change: Y144C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: Y144C
| 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 |
noncoding transcript
Transcript: ENSMUST00000140697
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208602
AA Change: Y1889C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
| Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
| Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
| Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
T |
A |
5: 87,842,508 (GRCm39) |
H165L |
probably benign |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
| Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,477,340 (GRCm39) |
H349Q |
unknown |
Het |
| Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
| Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkpd1 |
G |
A |
7: 19,257,193 (GRCm39) |
G324D |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
| Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
| Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
| Pex5l |
G |
A |
3: 33,047,065 (GRCm39) |
A295V |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
| Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
| Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,599,601 (GRCm39) |
M428I |
probably benign |
Het |
| Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
probably damaging |
Het |
|
| Other mutations in Qrich2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4449:Qrich2
|
UTSW |
11 |
116,347,025 (GRCm39) |
small deletion |
probably benign |
|
|
R0122:Qrich2
|
UTSW |
11 |
116,337,639 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0157:Qrich2
|
UTSW |
11 |
116,332,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Qrich2
|
UTSW |
11 |
116,332,311 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1786:Qrich2
|
UTSW |
11 |
116,332,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Qrich2
|
UTSW |
11 |
116,337,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2130:Qrich2
|
UTSW |
11 |
116,339,243 (GRCm39) |
splice site |
probably benign |
|
|
R2178:Qrich2
|
UTSW |
11 |
116,334,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Qrich2
|
UTSW |
11 |
116,336,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Qrich2
|
UTSW |
11 |
116,337,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Qrich2
|
UTSW |
11 |
116,337,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Qrich2
|
UTSW |
11 |
116,339,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Qrich2
|
UTSW |
11 |
116,336,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5589:Qrich2
|
UTSW |
11 |
116,332,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Qrich2
|
UTSW |
11 |
116,335,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Qrich2
|
UTSW |
11 |
116,337,832 (GRCm39) |
intron |
probably benign |
|
|
R6183:Qrich2
|
UTSW |
11 |
116,348,955 (GRCm39) |
unclassified |
probably benign |
|
|
R6193:Qrich2
|
UTSW |
11 |
116,344,979 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6211:Qrich2
|
UTSW |
11 |
116,344,368 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6375:Qrich2
|
UTSW |
11 |
116,349,054 (GRCm39) |
unclassified |
probably benign |
|
|
R6452:Qrich2
|
UTSW |
11 |
116,346,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6870:Qrich2
|
UTSW |
11 |
116,346,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7073:Qrich2
|
UTSW |
11 |
116,337,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7552:Qrich2
|
UTSW |
11 |
116,347,080 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7585:Qrich2
|
UTSW |
11 |
116,346,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7586:Qrich2
|
UTSW |
11 |
116,346,450 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7588:Qrich2
|
UTSW |
11 |
116,356,763 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7633:Qrich2
|
UTSW |
11 |
116,347,455 (GRCm39) |
missense |
unknown |
|
|
R7638:Qrich2
|
UTSW |
11 |
116,346,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7736:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R7737:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R7753:Qrich2
|
UTSW |
11 |
116,347,868 (GRCm39) |
small deletion |
probably benign |
|
|
R7800:Qrich2
|
UTSW |
11 |
116,347,686 (GRCm39) |
nonsense |
probably null |
|
|
R7833:Qrich2
|
UTSW |
11 |
116,346,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7912:Qrich2
|
UTSW |
11 |
116,346,608 (GRCm39) |
small deletion |
probably benign |
|
|
R7923:Qrich2
|
UTSW |
11 |
116,348,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Qrich2
|
UTSW |
11 |
116,347,861 (GRCm39) |
small deletion |
probably benign |
|
|
R8225:Qrich2
|
UTSW |
11 |
116,344,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Qrich2
|
UTSW |
11 |
116,347,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8391:Qrich2
|
UTSW |
11 |
116,356,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8705:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R8792:Qrich2
|
UTSW |
11 |
116,347,456 (GRCm39) |
missense |
unknown |
|
|
R8912:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9025:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9121:Qrich2
|
UTSW |
11 |
116,347,272 (GRCm39) |
missense |
unknown |
|
|
R9130:Qrich2
|
UTSW |
11 |
116,347,692 (GRCm39) |
nonsense |
probably null |
|
|
R9219:Qrich2
|
UTSW |
11 |
116,335,900 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9254:Qrich2
|
UTSW |
11 |
116,348,934 (GRCm39) |
missense |
unknown |
|
|
R9256:Qrich2
|
UTSW |
11 |
116,356,450 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9288:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9379:Qrich2
|
UTSW |
11 |
116,348,934 (GRCm39) |
missense |
unknown |
|
|
R9448:Qrich2
|
UTSW |
11 |
116,338,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9521:Qrich2
|
UTSW |
11 |
116,339,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Qrich2
|
UTSW |
11 |
116,337,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9639:Qrich2
|
UTSW |
11 |
116,346,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9694:Qrich2
|
UTSW |
11 |
116,337,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Qrich2
|
UTSW |
11 |
116,347,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Qrich2
|
UTSW |
11 |
116,347,494 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCTGTGTGAGAGACCAGC -3'
(R):5'- AGGGTGACTGTGAGAAGCTC -3'
Sequencing Primer
(F):5'- GATGTTCCTCGGGCAGTC -3'
(R):5'- GTGACTGTGAGAAGCTCAACATTACC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation