Incidental Mutation 'R1037:Qser1'
| ID |
93844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qser1
|
| Ensembl Gene |
ENSMUSG00000074994 |
| Gene Name |
glutamine and serine rich 1 |
| Synonyms |
4732486I23Rik |
| MMRRC Submission |
039136-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.622)
|
| Stock # |
R1037 (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 104590900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1722
(Y1722C)
|
| 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: Y1632C
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: Y1632C
| 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 damaging
Transcript: ENSMUST00000231375
AA Change: Y1722C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1400 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.1%
- 10x: 94.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,328,240 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,875,657 (GRCm39) |
N610I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,984,982 (GRCm39) |
F2089L |
probably benign |
Het |
| Cacnb1 |
T |
C |
11: 97,895,843 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,730,275 (GRCm39) |
I61V |
possibly damaging |
Het |
| Ckap5 |
T |
C |
2: 91,380,974 (GRCm39) |
I110T |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,725,702 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
C |
3: 113,987,801 (GRCm39) |
E265A |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,251 (GRCm39) |
|
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,333,537 (GRCm39) |
T272M |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,347,193 (GRCm39) |
L415R |
probably damaging |
Het |
| Dbnl |
T |
C |
11: 5,746,807 (GRCm39) |
F179S |
probably damaging |
Het |
| Eepd1 |
T |
C |
9: 25,498,079 (GRCm39) |
L388P |
possibly damaging |
Het |
| Exosc8 |
G |
T |
3: 54,640,159 (GRCm39) |
A55E |
probably damaging |
Het |
| Fam72a |
G |
A |
1: 131,461,557 (GRCm39) |
V81I |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,700,277 (GRCm39) |
M2182I |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,862,322 (GRCm39) |
P2234S |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,323,896 (GRCm39) |
D33E |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,456,163 (GRCm39) |
|
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,417 (GRCm39) |
V42E |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,378 (GRCm39) |
Q229R |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,412 (GRCm39) |
E308G |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,330 (GRCm39) |
M319V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,138,698 (GRCm39) |
I672M |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,664 (GRCm39) |
L223P |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,276,182 (GRCm39) |
K554E |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,524,246 (GRCm39) |
T383I |
probably damaging |
Het |
| Opcml |
T |
A |
9: 28,814,595 (GRCm39) |
D290E |
probably damaging |
Het |
| Or10a3b |
T |
A |
7: 108,445,191 (GRCm39) |
T9S |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,376 (GRCm39) |
D189V |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,573 (GRCm39) |
I252T |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,333 (GRCm39) |
Y60C |
probably damaging |
Het |
| Palm3 |
C |
A |
8: 84,755,901 (GRCm39) |
T471K |
probably benign |
Het |
| Prl2c5 |
T |
A |
13: 13,360,492 (GRCm39) |
L50* |
probably null |
Het |
| Pzp |
T |
C |
6: 128,496,389 (GRCm39) |
N281S |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,699,453 (GRCm39) |
V879A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,531,975 (GRCm39) |
S736P |
possibly damaging |
Het |
| Septin5 |
G |
A |
16: 18,441,844 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,298,996 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,010,433 (GRCm39) |
T1976S |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,246,320 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,446,688 (GRCm39) |
W853R |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,953,532 (GRCm39) |
Q983L |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,347 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,638,606 (GRCm39) |
V294D |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,082 (GRCm39) |
S463G |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,385 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
G |
11: 43,621,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,278 (GRCm39) |
R303H |
possibly damaging |
Het |
| Vwa8 |
C |
A |
14: 79,324,094 (GRCm39) |
C1132* |
probably null |
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 |
|
|
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'- cagcaccCCCCAAATAACAAATACTGA -3'
(R):5'- AGCAGGCAACACGTCTATTATTTTGCTA -3'
Sequencing Primer
(F):5'- caggacaggtagtggtaaacag -3'
(R):5'- GTTTGTTTTTCAAATGGCATGTACTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation