Incidental Mutation 'R4418:Qser1'
ID |
326918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qser1
|
Ensembl Gene |
ENSMUSG00000074994 |
Gene Name |
glutamine and serine rich 1 |
Synonyms |
4732486I23Rik |
MMRRC Submission |
041139-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R4418 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104585140-104647105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104619766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 349
(S349T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117237]
[ENSMUST00000231375]
|
AlphaFold |
A0A338P6K9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117237
AA Change: S259T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114062 Gene: ENSMUSG00000074994 AA Change: S259T
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: S349T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.0665 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
95% (72/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
A |
G |
1: 159,872,372 (GRCm39) |
|
noncoding transcript |
Het |
Acot12 |
A |
G |
13: 91,932,524 (GRCm39) |
T507A |
possibly damaging |
Het |
Agap2 |
T |
G |
10: 126,927,519 (GRCm39) |
C1113W |
probably damaging |
Het |
Ap3s1-ps2 |
A |
T |
8: 95,131,921 (GRCm39) |
|
noncoding transcript |
Het |
B3gnt3 |
T |
C |
8: 72,146,413 (GRCm39) |
R39G |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,849,194 (GRCm39) |
D899V |
possibly damaging |
Het |
Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Col6a1 |
T |
A |
10: 76,554,239 (GRCm39) |
K323* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,453,972 (GRCm39) |
F285S |
possibly damaging |
Het |
Dctn2 |
T |
G |
10: 127,114,234 (GRCm39) |
M360R |
probably benign |
Het |
Dele1 |
T |
C |
18: 38,394,340 (GRCm39) |
|
probably null |
Het |
Dgka |
A |
T |
10: 128,563,963 (GRCm39) |
L462Q |
probably damaging |
Het |
Drg2 |
A |
C |
11: 60,358,972 (GRCm39) |
K364T |
probably damaging |
Het |
Dync1li1 |
T |
A |
9: 114,535,238 (GRCm39) |
S167R |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,956,799 (GRCm39) |
T365A |
probably benign |
Het |
Fer |
A |
T |
17: 64,336,286 (GRCm39) |
D554V |
possibly damaging |
Het |
Fignl2 |
A |
G |
15: 100,951,830 (GRCm39) |
S151P |
possibly damaging |
Het |
Gbgt1 |
A |
G |
2: 28,388,420 (GRCm39) |
Y35C |
probably damaging |
Het |
Gm6526 |
T |
A |
14: 43,986,302 (GRCm39) |
I79K |
probably damaging |
Het |
Gpr6 |
T |
G |
10: 40,946,604 (GRCm39) |
N326T |
probably damaging |
Het |
H2bc4 |
C |
T |
13: 23,868,486 (GRCm39) |
T91M |
probably damaging |
Het |
Hcn4 |
C |
T |
9: 58,751,178 (GRCm39) |
T268M |
probably benign |
Het |
Hnf4g |
A |
G |
3: 3,713,154 (GRCm39) |
M243V |
possibly damaging |
Het |
Homer1 |
A |
G |
13: 93,538,577 (GRCm39) |
E314G |
probably damaging |
Het |
Hs6st1 |
T |
C |
1: 36,143,108 (GRCm39) |
Y348H |
probably damaging |
Het |
Ifitm6 |
A |
T |
7: 140,595,984 (GRCm39) |
I103N |
probably damaging |
Het |
Ipo5 |
T |
G |
14: 121,181,305 (GRCm39) |
C944G |
possibly damaging |
Het |
Kcnb1 |
C |
A |
2: 166,947,595 (GRCm39) |
E418* |
probably null |
Het |
Kcnk2 |
G |
A |
1: 188,988,924 (GRCm39) |
R207C |
probably damaging |
Het |
Kctd8 |
T |
C |
5: 69,498,505 (GRCm39) |
E47G |
probably damaging |
Het |
Klhdc2 |
C |
T |
12: 69,354,371 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,509,140 (GRCm39) |
|
probably benign |
Het |
Mgat1 |
A |
G |
11: 49,152,072 (GRCm39) |
Y185C |
probably damaging |
Het |
Mmp25 |
T |
A |
17: 23,863,044 (GRCm39) |
R122S |
probably damaging |
Het |
Mrpl39 |
C |
A |
16: 84,522,012 (GRCm39) |
|
probably null |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,559,898 (GRCm39) |
F1007S |
probably damaging |
Het |
Neto1 |
T |
C |
18: 86,422,981 (GRCm39) |
M146T |
probably benign |
Het |
Opn1sw |
G |
A |
6: 29,379,423 (GRCm39) |
R45* |
probably null |
Het |
Osbpl5 |
A |
T |
7: 143,263,552 (GRCm39) |
C98* |
probably null |
Het |
Pacc1 |
T |
A |
1: 191,080,629 (GRCm39) |
V283E |
probably damaging |
Het |
Pcdhb7 |
C |
T |
18: 37,476,535 (GRCm39) |
A557V |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,586,748 (GRCm39) |
F155L |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pmfbp1 |
C |
A |
8: 110,257,265 (GRCm39) |
Q609K |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,831,795 (GRCm39) |
|
probably null |
Het |
Ppp2cb |
G |
A |
8: 34,107,077 (GRCm39) |
R254Q |
probably benign |
Het |
Rnf167 |
T |
A |
11: 70,538,743 (GRCm39) |
W17R |
probably damaging |
Het |
Rpl21-ps4 |
A |
G |
14: 11,227,879 (GRCm38) |
|
noncoding transcript |
Het |
Rxfp2 |
A |
T |
5: 149,972,265 (GRCm39) |
H158L |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,661,569 (GRCm39) |
C1807Y |
probably damaging |
Het |
Scaper |
T |
A |
9: 55,745,464 (GRCm39) |
E601D |
probably damaging |
Het |
Secisbp2l |
A |
T |
2: 125,594,835 (GRCm39) |
C542S |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,832,514 (GRCm39) |
V393A |
possibly damaging |
Het |
Stil |
A |
G |
4: 114,866,574 (GRCm39) |
N176S |
probably benign |
Het |
Tap1 |
T |
A |
17: 34,407,353 (GRCm39) |
|
probably null |
Het |
Tcl1b3 |
A |
T |
12: 105,159,844 (GRCm39) |
Q105L |
probably damaging |
Het |
Trappc10 |
G |
T |
10: 78,053,022 (GRCm39) |
A251D |
probably damaging |
Het |
Trim43a |
G |
T |
9: 88,464,206 (GRCm39) |
C39F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,719,825 (GRCm39) |
|
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,803,951 (GRCm39) |
L208* |
probably null |
Het |
Vmn2r88 |
G |
T |
14: 51,655,538 (GRCm39) |
L583F |
probably damaging |
Het |
Wasf1 |
C |
T |
10: 40,812,578 (GRCm39) |
H456Y |
unknown |
Het |
Zfp120 |
A |
G |
2: 149,960,105 (GRCm39) |
I73T |
possibly damaging |
Het |
Zfp990 |
T |
C |
4: 145,263,298 (GRCm39) |
C99R |
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 |
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 |
|
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'- ACCTGTGAATGAACAATAGATGGC -3'
(R):5'- CATCCAGGCAGTCGTCTTTATC -3'
Sequencing Primer
(F):5'- CACATTATGTGGCTGTACTAAACC -3'
(R):5'- CAGGCAGTCGTCTTTATCCTGTAG -3'
|
Posted On |
2015-07-07 |