Incidental Mutation 'R4179:Qser1'
ID |
319616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qser1
|
Ensembl Gene |
ENSMUSG00000074994 |
Gene Name |
glutamine and serine rich 1 |
Synonyms |
4732486I23Rik |
MMRRC Submission |
041015-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R4179 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
104585140-104647105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104606729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1510
(I1510T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117237]
[ENSMUST00000231375]
|
AlphaFold |
A0A338P6K9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117237
AA Change: I1420T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000114062 Gene: ENSMUSG00000074994 AA Change: I1420T
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
low complexity region
|
532 |
550 |
N/A |
INTRINSIC |
low complexity region
|
697 |
713 |
N/A |
INTRINSIC |
low complexity region
|
1037 |
1050 |
N/A |
INTRINSIC |
low complexity region
|
1420 |
1449 |
N/A |
INTRINSIC |
Pfam:DUF4211
|
1470 |
1616 |
1e-26 |
PFAM |
low complexity region
|
1631 |
1647 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231375
AA Change: I1510T
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,104,128 (GRCm39) |
M506V |
probably benign |
Het |
Ano1 |
A |
T |
7: 144,204,242 (GRCm39) |
M290K |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,289,821 (GRCm39) |
L34Q |
probably damaging |
Het |
Cdadc1 |
G |
T |
14: 59,829,935 (GRCm39) |
T77N |
probably benign |
Het |
Cmtr2 |
C |
G |
8: 110,947,669 (GRCm39) |
|
probably null |
Het |
Cnot2 |
A |
T |
10: 116,334,048 (GRCm39) |
V374E |
possibly damaging |
Het |
Crnn |
T |
C |
3: 93,054,120 (GRCm39) |
M1T |
probably null |
Het |
Ctsb |
A |
G |
14: 63,370,901 (GRCm39) |
N38D |
probably benign |
Het |
Dock10 |
A |
C |
1: 80,488,134 (GRCm39) |
S2010A |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Eci1 |
T |
C |
17: 24,655,251 (GRCm39) |
W119R |
probably damaging |
Het |
Foxo1 |
C |
A |
3: 52,252,840 (GRCm39) |
D334E |
probably benign |
Het |
Gck |
T |
C |
11: 5,860,295 (GRCm39) |
T116A |
probably benign |
Het |
Gcn1 |
T |
C |
5: 115,726,109 (GRCm39) |
V588A |
probably benign |
Het |
Gm7168 |
A |
G |
17: 14,169,265 (GRCm39) |
I211V |
probably benign |
Het |
Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
Jag1 |
A |
G |
2: 136,943,578 (GRCm39) |
F206S |
probably damaging |
Het |
Loxl3 |
G |
A |
6: 83,014,565 (GRCm39) |
V158I |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,027,567 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
G |
1: 51,817,685 (GRCm39) |
F532L |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,084,086 (GRCm39) |
H498Y |
possibly damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,387 (GRCm39) |
I226T |
probably benign |
Het |
Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
Pcdha2 |
T |
A |
18: 37,074,529 (GRCm39) |
L720Q |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,534,168 (GRCm39) |
M54K |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,130,590 (GRCm39) |
*71W |
probably null |
Het |
Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,387,045 (GRCm39) |
Y1306S |
probably benign |
Het |
Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Prkd1 |
C |
A |
12: 50,413,231 (GRCm39) |
G647C |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Ranbp3l |
T |
C |
15: 9,057,279 (GRCm39) |
I314T |
possibly damaging |
Het |
Rgs9 |
C |
A |
11: 109,172,274 (GRCm39) |
|
probably null |
Het |
Riok1 |
T |
C |
13: 38,232,931 (GRCm39) |
F216L |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,106,405 (GRCm39) |
I308N |
probably damaging |
Het |
Serpina1f |
A |
T |
12: 103,658,179 (GRCm39) |
M242K |
probably benign |
Het |
Smox |
G |
A |
2: 131,366,770 (GRCm39) |
M576I |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,636,435 (GRCm39) |
N87I |
probably damaging |
Het |
Spink5 |
A |
T |
18: 44,120,934 (GRCm39) |
Q296L |
probably benign |
Het |
Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
T |
A |
7: 45,384,735 (GRCm39) |
I114F |
probably damaging |
Het |
Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tsen54 |
T |
C |
11: 115,711,678 (GRCm39) |
V365A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp47 |
T |
C |
7: 111,687,091 (GRCm39) |
L683P |
probably damaging |
Het |
Wdr18 |
T |
C |
10: 79,800,875 (GRCm39) |
L146P |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,750 (GRCm39) |
Y392C |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,888,601 (GRCm39) |
I828N |
possibly damaging |
Het |
|
Other mutations in Qser1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Qser1
|
APN |
2 |
104,596,401 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00402:Qser1
|
APN |
2 |
104,617,326 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00417:Qser1
|
APN |
2 |
104,617,248 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00756:Qser1
|
APN |
2 |
104,618,016 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01304:Qser1
|
APN |
2 |
104,617,976 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01317:Qser1
|
APN |
2 |
104,617,324 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02186:Qser1
|
APN |
2 |
104,618,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03236:Qser1
|
APN |
2 |
104,616,877 (GRCm39) |
missense |
probably benign |
0.35 |
IGL03365:Qser1
|
APN |
2 |
104,617,344 (GRCm39) |
missense |
probably damaging |
1.00 |
Behoove
|
UTSW |
2 |
104,617,322 (GRCm39) |
nonsense |
probably null |
|
I1329:Qser1
|
UTSW |
2 |
104,617,322 (GRCm39) |
nonsense |
probably null |
|
R0270:Qser1
|
UTSW |
2 |
104,619,306 (GRCm39) |
missense |
probably benign |
0.03 |
R0395:Qser1
|
UTSW |
2 |
104,593,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Qser1
|
UTSW |
2 |
104,620,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R0727:Qser1
|
UTSW |
2 |
104,607,656 (GRCm39) |
splice site |
probably benign |
|
R1037:Qser1
|
UTSW |
2 |
104,590,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R1222:Qser1
|
UTSW |
2 |
104,607,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Qser1
|
UTSW |
2 |
104,607,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Qser1
|
UTSW |
2 |
104,620,444 (GRCm39) |
missense |
probably benign |
|
R1974:Qser1
|
UTSW |
2 |
104,590,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R2200:Qser1
|
UTSW |
2 |
104,619,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R4379:Qser1
|
UTSW |
2 |
104,596,404 (GRCm39) |
splice site |
probably null |
|
R4418:Qser1
|
UTSW |
2 |
104,619,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Qser1
|
UTSW |
2 |
104,617,138 (GRCm39) |
missense |
probably benign |
0.01 |
R4697:Qser1
|
UTSW |
2 |
104,617,528 (GRCm39) |
missense |
probably benign |
0.00 |
R4749:Qser1
|
UTSW |
2 |
104,617,649 (GRCm39) |
missense |
probably benign |
0.16 |
R4775:Qser1
|
UTSW |
2 |
104,620,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R5010:Qser1
|
UTSW |
2 |
104,618,176 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5070:Qser1
|
UTSW |
2 |
104,617,627 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5268:Qser1
|
UTSW |
2 |
104,617,776 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5384:Qser1
|
UTSW |
2 |
104,616,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R5400:Qser1
|
UTSW |
2 |
104,620,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Qser1
|
UTSW |
2 |
104,616,919 (GRCm39) |
missense |
probably benign |
0.00 |
R5615:Qser1
|
UTSW |
2 |
104,620,039 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5664:Qser1
|
UTSW |
2 |
104,608,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Qser1
|
UTSW |
2 |
104,619,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R5793:Qser1
|
UTSW |
2 |
104,593,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Qser1
|
UTSW |
2 |
104,617,468 (GRCm39) |
missense |
probably damaging |
0.99 |
R6035:Qser1
|
UTSW |
2 |
104,617,468 (GRCm39) |
missense |
probably damaging |
0.99 |
R6171:Qser1
|
UTSW |
2 |
104,619,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R6223:Qser1
|
UTSW |
2 |
104,617,993 (GRCm39) |
missense |
probably benign |
0.01 |
R6254:Qser1
|
UTSW |
2 |
104,620,435 (GRCm39) |
missense |
probably benign |
0.07 |
R6303:Qser1
|
UTSW |
2 |
104,593,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R6653:Qser1
|
UTSW |
2 |
104,610,605 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6703:Qser1
|
UTSW |
2 |
104,607,670 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6970:Qser1
|
UTSW |
2 |
104,618,475 (GRCm39) |
missense |
probably benign |
0.25 |
R7064:Qser1
|
UTSW |
2 |
104,617,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Qser1
|
UTSW |
2 |
104,619,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R7643:Qser1
|
UTSW |
2 |
104,617,322 (GRCm39) |
nonsense |
probably null |
|
R7769:Qser1
|
UTSW |
2 |
104,588,921 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7836:Qser1
|
UTSW |
2 |
104,606,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7938:Qser1
|
UTSW |
2 |
104,619,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R8209:Qser1
|
UTSW |
2 |
104,619,070 (GRCm39) |
missense |
probably benign |
0.02 |
R8218:Qser1
|
UTSW |
2 |
104,593,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R8226:Qser1
|
UTSW |
2 |
104,619,070 (GRCm39) |
missense |
probably benign |
0.02 |
R8341:Qser1
|
UTSW |
2 |
104,619,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R8362:Qser1
|
UTSW |
2 |
104,620,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Qser1
|
UTSW |
2 |
104,618,098 (GRCm39) |
missense |
probably damaging |
0.99 |
R8983:Qser1
|
UTSW |
2 |
104,617,702 (GRCm39) |
missense |
probably benign |
0.02 |
R9051:Qser1
|
UTSW |
2 |
104,593,292 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9165:Qser1
|
UTSW |
2 |
104,618,815 (GRCm39) |
missense |
probably benign |
0.41 |
R9289:Qser1
|
UTSW |
2 |
104,617,593 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9342:Qser1
|
UTSW |
2 |
104,618,164 (GRCm39) |
missense |
probably benign |
0.00 |
R9380:Qser1
|
UTSW |
2 |
104,619,691 (GRCm39) |
nonsense |
probably null |
|
R9736:Qser1
|
UTSW |
2 |
104,619,988 (GRCm39) |
missense |
probably benign |
0.00 |
T0722:Qser1
|
UTSW |
2 |
104,617,177 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTAATTTCTTGGGGAACTCAC -3'
(R):5'- CATGACAATGCTGTGGGAGTC -3'
Sequencing Primer
(F):5'- TACTGCTAGAACGGACCTCAGG -3'
(R):5'- GGAGTCATTTGAGTTGTATATAGCAC -3'
|
Posted On |
2015-06-10 |