Incidental Mutation 'R5502:Qser1'
ID |
430643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qser1
|
Ensembl Gene |
ENSMUSG00000074994 |
Gene Name |
glutamine and serine rich 1 |
Synonyms |
4732486I23Rik |
MMRRC Submission |
043063-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R5502 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104585140-104647105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104616919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1298
(T1298A)
|
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: T1208A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114062 Gene: ENSMUSG00000074994 AA Change: T1208A
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: T1298A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.0%
- 20x: 90.2%
|
Validation Efficiency |
98% (84/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abcc8 |
A |
G |
7: 45,758,262 (GRCm39) |
I1268T |
probably benign |
Het |
Accsl |
C |
T |
2: 93,687,289 (GRCm39) |
|
probably null |
Het |
Actmap |
A |
G |
7: 26,896,542 (GRCm39) |
D35G |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,756,291 (GRCm39) |
I842F |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,415,370 (GRCm39) |
L98Q |
probably damaging |
Het |
Bin2 |
A |
G |
15: 100,543,286 (GRCm39) |
V299A |
probably benign |
Het |
Cabp4 |
G |
A |
19: 4,181,228 (GRCm39) |
|
probably benign |
Het |
Ces2f |
A |
T |
8: 105,679,155 (GRCm39) |
H324L |
possibly damaging |
Het |
Chd4 |
G |
A |
6: 125,082,239 (GRCm39) |
R576Q |
possibly damaging |
Het |
Cndp1 |
A |
G |
18: 84,650,138 (GRCm39) |
V185A |
possibly damaging |
Het |
Cntn3 |
A |
C |
6: 102,242,295 (GRCm39) |
V450G |
possibly damaging |
Het |
Col5a2 |
C |
A |
1: 45,419,286 (GRCm39) |
G1265W |
probably damaging |
Het |
Corin |
G |
A |
5: 72,473,449 (GRCm39) |
Q754* |
probably null |
Het |
Cyp4a10 |
A |
G |
4: 115,382,702 (GRCm39) |
N291S |
probably benign |
Het |
Dap3 |
T |
C |
3: 88,832,633 (GRCm39) |
Y353C |
probably damaging |
Het |
Disp1 |
A |
G |
1: 182,869,450 (GRCm39) |
V990A |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,847,594 (GRCm39) |
|
probably null |
Het |
Dop1b |
T |
A |
16: 93,590,114 (GRCm39) |
V179E |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,132,836 (GRCm39) |
|
probably null |
Het |
Fyb2 |
A |
T |
4: 104,802,521 (GRCm39) |
Q141L |
probably damaging |
Het |
Gemin4 |
A |
T |
11: 76,104,227 (GRCm39) |
L178* |
probably null |
Het |
Gm15446 |
A |
T |
5: 110,088,364 (GRCm39) |
K25* |
probably null |
Het |
Gm17067 |
A |
T |
7: 42,357,843 (GRCm39) |
C220S |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,042 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
GT |
GTT |
9: 118,388,125 (GRCm39) |
|
probably null |
Het |
Gria2 |
T |
C |
3: 80,614,252 (GRCm39) |
N596S |
probably damaging |
Het |
Hoxb4 |
A |
G |
11: 96,211,057 (GRCm39) |
D219G |
probably damaging |
Het |
Htr1b |
T |
A |
9: 81,513,854 (GRCm39) |
Q251L |
possibly damaging |
Het |
Ibtk |
A |
C |
9: 85,602,916 (GRCm39) |
S696R |
probably benign |
Het |
Ide |
C |
A |
19: 37,307,855 (GRCm39) |
K52N |
unknown |
Het |
Incenp |
C |
A |
19: 9,870,728 (GRCm39) |
L300F |
unknown |
Het |
Ino80 |
T |
C |
2: 119,232,877 (GRCm39) |
Y1147C |
probably damaging |
Het |
Mme |
T |
A |
3: 63,207,702 (GRCm39) |
Y49* |
probably null |
Het |
Mmp15 |
A |
T |
8: 96,094,812 (GRCm39) |
T229S |
possibly damaging |
Het |
Mtmr4 |
A |
T |
11: 87,504,904 (GRCm39) |
N1133I |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,411,250 (GRCm39) |
G284R |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,448,381 (GRCm39) |
I52T |
probably damaging |
Het |
Nat8f5 |
G |
T |
6: 85,794,635 (GRCm39) |
F108L |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,350,158 (GRCm39) |
H2402Q |
probably damaging |
Het |
Nexn |
T |
A |
3: 151,943,941 (GRCm39) |
E331D |
probably damaging |
Het |
Nktr |
C |
T |
9: 121,577,672 (GRCm39) |
|
probably benign |
Het |
Oaz3 |
T |
C |
3: 94,342,392 (GRCm39) |
D88G |
probably damaging |
Het |
Or1n1 |
T |
C |
2: 36,750,282 (GRCm39) |
Y26C |
probably damaging |
Het |
Or4l1 |
A |
G |
14: 50,166,993 (GRCm39) |
Y3H |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,534,656 (GRCm39) |
T217S |
possibly damaging |
Het |
Pcdhga2 |
A |
T |
18: 37,803,605 (GRCm39) |
D483V |
possibly damaging |
Het |
Pde5a |
G |
T |
3: 122,596,681 (GRCm39) |
G456V |
probably damaging |
Het |
Rapgef5 |
T |
C |
12: 117,685,064 (GRCm39) |
V303A |
probably damaging |
Het |
Rbbp6 |
T |
G |
7: 122,587,947 (GRCm39) |
M267R |
probably damaging |
Het |
Rfx8 |
C |
A |
1: 39,722,113 (GRCm39) |
V291F |
probably damaging |
Het |
Rnf121 |
T |
C |
7: 101,672,555 (GRCm39) |
K276R |
probably null |
Het |
Rtca |
G |
T |
3: 116,282,931 (GRCm39) |
Y352* |
probably null |
Het |
Rusf1 |
C |
T |
7: 127,884,308 (GRCm39) |
V225M |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,443,549 (GRCm39) |
V1865A |
probably damaging |
Het |
Sclt1 |
C |
T |
3: 41,611,710 (GRCm39) |
E521K |
probably benign |
Het |
Setd1a |
T |
C |
7: 127,396,420 (GRCm39) |
|
probably null |
Het |
Slc37a4 |
G |
T |
9: 44,313,394 (GRCm39) |
V337L |
probably benign |
Het |
Slc5a9 |
G |
T |
4: 111,750,366 (GRCm39) |
S79* |
probably null |
Het |
Snrpd2 |
T |
C |
7: 18,885,247 (GRCm39) |
V36A |
probably benign |
Het |
Spata31d1b |
A |
T |
13: 59,864,486 (GRCm39) |
N545Y |
probably damaging |
Het |
Sstr4 |
CGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
2: 148,237,471 (GRCm39) |
|
probably benign |
Het |
St7 |
G |
A |
6: 17,834,673 (GRCm39) |
V98I |
possibly damaging |
Het |
Strip2 |
A |
T |
6: 29,927,623 (GRCm39) |
I223F |
probably benign |
Het |
Syn2 |
A |
C |
6: 115,255,313 (GRCm39) |
N542H |
possibly damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,109,496 (GRCm39) |
T327A |
probably benign |
Het |
Timm44 |
A |
T |
8: 4,319,992 (GRCm39) |
F59I |
possibly damaging |
Het |
Tmem41b |
A |
T |
7: 109,581,970 (GRCm39) |
C44* |
probably null |
Het |
Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
Tusc3 |
A |
T |
8: 39,597,947 (GRCm39) |
K188* |
probably null |
Het |
Usp39 |
T |
A |
6: 72,305,670 (GRCm39) |
Q371L |
probably benign |
Het |
Vmn2r13 |
G |
T |
5: 109,321,580 (GRCm39) |
N372K |
probably damaging |
Het |
Zfp961 |
T |
A |
8: 72,721,903 (GRCm39) |
Y139N |
probably 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 |
R4179:Qser1
|
UTSW |
2 |
104,606,729 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
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'- TGTAACCAAAATCCTACATGCAAGG -3'
(R):5'- AACCACCCGTACGTTCTGTC -3'
Sequencing Primer
(F):5'- AATCCTACATGCAAGGAAATGTC -3'
(R):5'- GTCCCCCACCTTTTGCAAAGAC -3'
|
Posted On |
2016-10-05 |