Incidental Mutation 'R0727:Qser1'
| ID |
200626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qser1
|
| Ensembl Gene |
ENSMUSG00000074994 |
| Gene Name |
glutamine and serine rich 1 |
| Synonyms |
4732486I23Rik |
| MMRRC Submission |
038909-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.622)
|
| Stock # |
R0727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104585140-104647105 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 104607656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117237]
[ENSMUST00000231375]
|
| AlphaFold |
A0A338P6K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117237
|
| SMART Domains |
Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
| 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
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.1%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,016,937 (GRCm39) |
V83A |
possibly damaging |
Het |
| Adam2 |
A |
G |
14: 66,267,180 (GRCm39) |
I693T |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,536 (GRCm39) |
D214G |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,154,781 (GRCm39) |
Y36* |
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,852,072 (GRCm39) |
|
probably null |
Het |
| Catsperb |
G |
T |
12: 101,560,614 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
T |
C |
19: 6,831,582 (GRCm39) |
M482V |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,610,786 (GRCm39) |
K723E |
probably benign |
Het |
| Cep112 |
G |
A |
11: 108,397,380 (GRCm39) |
R375H |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,025 (GRCm39) |
S211P |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,950,954 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,039,828 (GRCm39) |
V1027A |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,100,898 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,123,311 (GRCm39) |
H307R |
probably damaging |
Het |
| Faah |
A |
G |
4: 115,862,257 (GRCm39) |
I242T |
probably damaging |
Het |
| Farsa |
T |
A |
8: 85,587,933 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,907,995 (GRCm39) |
L2669R |
probably damaging |
Het |
| Fgfr4 |
C |
A |
13: 55,304,041 (GRCm39) |
|
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,739,034 (GRCm39) |
S55P |
probably damaging |
Het |
| Grhl3 |
T |
A |
4: 135,273,565 (GRCm39) |
K562N |
possibly damaging |
Het |
| H2bl1 |
A |
G |
13: 99,120,735 (GRCm39) |
V97A |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,201,294 (GRCm39) |
V249A |
probably damaging |
Het |
| Hyal1 |
T |
C |
9: 107,455,601 (GRCm39) |
S304P |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,906 (GRCm39) |
|
probably null |
Het |
| Kif3c |
A |
G |
12: 3,416,776 (GRCm39) |
T266A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,956 (GRCm39) |
D3496G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,818,155 (GRCm39) |
V442G |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,648,044 (GRCm39) |
Y479C |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,954,350 (GRCm39) |
T52A |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,004,978 (GRCm39) |
D150G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,221 (GRCm39) |
M2927V |
probably benign |
Het |
| Obi1 |
G |
C |
14: 104,717,624 (GRCm39) |
L250V |
probably damaging |
Het |
| Or11h6 |
G |
T |
14: 50,880,460 (GRCm39) |
V241L |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,315 (GRCm39) |
R229H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,458 (GRCm39) |
I13V |
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,363,245 (GRCm39) |
Y289* |
probably null |
Het |
| Or8k27 |
T |
C |
2: 86,276,282 (GRCm39) |
M15V |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,724 (GRCm39) |
Y149* |
probably null |
Het |
| Pabpc2 |
A |
C |
18: 39,908,187 (GRCm39) |
Q484P |
probably benign |
Het |
| Pbld2 |
T |
A |
10: 62,903,298 (GRCm39) |
V125D |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,399,184 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Pum2 |
A |
G |
12: 8,794,465 (GRCm39) |
E785G |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,564,514 (GRCm39) |
D29G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,791,318 (GRCm39) |
Y180* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,109,002 (GRCm39) |
S140G |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,227,320 (GRCm39) |
N122S |
possibly damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,118,292 (GRCm39) |
I93L |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,581,771 (GRCm39) |
G4798D |
probably damaging |
Het |
| Scaf11 |
G |
A |
15: 96,317,324 (GRCm39) |
P747S |
probably damaging |
Het |
| Sgo2b |
T |
G |
8: 64,380,816 (GRCm39) |
K672T |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,765,645 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Ssh3 |
G |
T |
19: 4,314,019 (GRCm39) |
H439Q |
probably damaging |
Het |
| Steap3 |
T |
A |
1: 120,155,547 (GRCm39) |
T471S |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,920,725 (GRCm39) |
I208L |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,994,081 (GRCm39) |
Y203C |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,598,926 (GRCm39) |
I304T |
possibly damaging |
Het |
| Top2a |
A |
T |
11: 98,902,974 (GRCm39) |
C404* |
probably null |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,809,069 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,133 (GRCm39) |
H2097L |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,831 (GRCm39) |
K156E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,630,386 (GRCm39) |
K1413E |
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 |
|
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 |
|
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'- TCACTGTGTGCTGACCTGATAATGC -3'
(R):5'- AAGGATGGGTGGCTGTGAACTTAAC -3'
Sequencing Primer
(F):5'- GCTGACCTGATAATGCACTTG -3'
(R):5'- CCTTGGGTATTTTGGAGATGCAA -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation