Incidental Mutation 'R6452:Qrich2'
| ID |
519429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich2
|
| Ensembl Gene |
ENSMUSG00000070331 |
| Gene Name |
glutamine rich 2 |
| Synonyms |
LOC217341 |
| MMRRC Submission |
044588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116332151-116357067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116346714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1370
(T1370I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093909]
[ENSMUST00000208602]
|
| AlphaFold |
Q3V2A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093909
|
| SMART Domains |
Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
| 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: T1370I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
G |
13: 119,624,651 (GRCm39) |
|
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,210,831 (GRCm39) |
V296E |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,724,705 (GRCm39) |
E400K |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,527 (GRCm39) |
D1273G |
probably damaging |
Het |
| Cetn3 |
C |
T |
13: 81,932,797 (GRCm39) |
R19* |
probably null |
Het |
| Chd6 |
G |
T |
2: 160,807,418 (GRCm39) |
P1932H |
possibly damaging |
Het |
| Cimip1 |
C |
A |
2: 173,369,700 (GRCm39) |
F71L |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,290 (GRCm39) |
I483N |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,801,468 (GRCm39) |
V71A |
possibly damaging |
Het |
| Dhx35 |
A |
G |
2: 158,673,607 (GRCm39) |
E346G |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,706,237 (GRCm39) |
Q1036K |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,992,105 (GRCm39) |
F92I |
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,327,163 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,338,198 (GRCm39) |
F491S |
probably damaging |
Het |
| Fzd2 |
T |
G |
11: 102,495,811 (GRCm39) |
V85G |
probably damaging |
Het |
| Gjd4 |
G |
A |
18: 9,280,457 (GRCm39) |
T207M |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,057,490 (GRCm39) |
E1096G |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,524,290 (GRCm39) |
L142* |
probably null |
Het |
| Kctd21 |
T |
A |
7: 96,996,869 (GRCm39) |
I114N |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,042,329 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,197,503 (GRCm39) |
V240A |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,882 (GRCm39) |
S409P |
probably damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,132 (GRCm39) |
E1012G |
unknown |
Het |
| Mmp24 |
A |
T |
2: 155,657,673 (GRCm39) |
D521V |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,828,998 (GRCm39) |
I768V |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,643,609 (GRCm39) |
E553V |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,196,565 (GRCm39) |
I1762F |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,275 (GRCm39) |
Y718F |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Neb |
A |
T |
2: 52,069,495 (GRCm39) |
D5775E |
probably benign |
Het |
| Or10h5 |
T |
C |
17: 33,434,919 (GRCm39) |
N133S |
probably benign |
Het |
| Or5p66 |
A |
G |
7: 107,886,100 (GRCm39) |
S78P |
probably damaging |
Het |
| Pramel19 |
T |
C |
4: 101,798,640 (GRCm39) |
Y204H |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,536,780 (GRCm39) |
I134T |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,281,331 (GRCm39) |
L630P |
probably damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,313,979 (GRCm39) |
L1566F |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,079 (GRCm39) |
W727R |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,629,175 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
G |
15: 84,088,298 (GRCm39) |
|
probably benign |
Het |
| Sema4f |
G |
A |
6: 82,894,643 (GRCm39) |
A476V |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,839 (GRCm39) |
N1031S |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,664,512 (GRCm39) |
Y390C |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,348,937 (GRCm39) |
Q3K |
probably benign |
Het |
| Smim1 |
T |
C |
4: 154,108,071 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,079,017 (GRCm39) |
T606S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,062,844 (GRCm39) |
D758G |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,783,287 (GRCm39) |
R550* |
probably null |
Het |
| Tlcd3a |
G |
T |
11: 76,097,972 (GRCm39) |
G60* |
probably null |
Het |
| Tnrc18 |
A |
C |
5: 142,712,767 (GRCm39) |
L2594R |
probably damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,496 (GRCm39) |
T468A |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,840 (GRCm39) |
I149F |
probably damaging |
Het |
| Vmn2r96 |
A |
C |
17: 18,804,117 (GRCm39) |
T264P |
probably benign |
Het |
| Zfp217 |
C |
G |
2: 169,961,214 (GRCm39) |
S371T |
probably benign |
Het |
| Zfp442 |
G |
A |
2: 150,250,028 (GRCm39) |
H568Y |
probably damaging |
Het |
| Zfp53 |
A |
C |
17: 21,729,875 (GRCm39) |
H636P |
probably damaging |
Het |
| Zscan4d |
C |
T |
7: 10,895,999 (GRCm39) |
C457Y |
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 |
|
R5362:Qrich2
|
UTSW |
11 |
116,337,976 (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 |
|
|
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'- TCAACCATCCCAGGCTGTATCC -3'
(R):5'- AGCCTATCACGGATCAGAGAG -3'
Sequencing Primer
(F):5'- CAGGCTGTATCCTGTCCAGC -3'
(R):5'- TGAAACTCTTCAGCCTAGGCAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation