Incidental Mutation 'T0722:Qser1'
ID |
67327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qser1
|
Ensembl Gene |
ENSMUSG00000074994 |
Gene Name |
glutamine and serine rich 1 |
Synonyms |
4732486I23Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
T0722 (G3)
of strain
711
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104585140-104647105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104617177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1122
(C1122R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117237]
[ENSMUST00000231375]
|
AlphaFold |
A0A338P6K9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117237
AA Change: C1122R
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114062 Gene: ENSMUSG00000074994 AA Change: C1122R
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: C1212R
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
G |
12: 113,453,197 (GRCm39) |
T5A |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,454,888 (GRCm39) |
D568E |
probably benign |
Het |
Ago3 |
C |
T |
4: 126,298,056 (GRCm39) |
V155I |
probably benign |
Het |
Ago3 |
G |
A |
4: 126,298,103 (GRCm39) |
A139V |
probably benign |
Het |
Ago3 |
C |
T |
4: 126,298,098 (GRCm39) |
A141T |
probably benign |
Het |
Ago3 |
T |
G |
4: 126,298,089 (GRCm39) |
T144P |
probably benign |
Het |
Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
Atp6v1g3 |
T |
A |
1: 138,201,591 (GRCm39) |
|
probably benign |
Het |
Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
Cdk5r1 |
G |
T |
11: 80,368,707 (GRCm39) |
V125F |
probably benign |
Het |
Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
A |
G |
8: 96,023,278 (GRCm39) |
M240T |
probably benign |
Het |
Cngb1 |
G |
A |
8: 96,030,342 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
T |
C |
8: 96,030,324 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
G |
T |
8: 96,024,447 (GRCm39) |
Q205K |
probably damaging |
Het |
Cog8 |
G |
T |
8: 107,775,625 (GRCm39) |
L580I |
probably benign |
Het |
Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
Cwf19l2 |
T |
C |
9: 3,456,755 (GRCm39) |
F696S |
probably benign |
Het |
Ddi2 |
G |
A |
4: 141,440,784 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,807,841 (GRCm39) |
D984G |
probably null |
Het |
Fam135b |
T |
G |
15: 71,335,734 (GRCm39) |
T487P |
probably damaging |
Het |
Fstl3 |
A |
G |
10: 79,615,997 (GRCm39) |
Y161C |
probably damaging |
Het |
Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
Gm8186 |
C |
T |
17: 26,318,101 (GRCm39) |
R32Q |
probably benign |
Het |
Jakmip1 |
C |
A |
5: 37,276,247 (GRCm39) |
A519D |
probably damaging |
Het |
Jcad |
G |
T |
18: 4,675,531 (GRCm39) |
A1098S |
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
Mmp13 |
G |
T |
9: 7,280,857 (GRCm39) |
M413I |
possibly damaging |
Het |
Mmp25 |
G |
A |
17: 23,850,192 (GRCm39) |
A456V |
possibly damaging |
Het |
Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
Myh8 |
G |
A |
11: 67,195,262 (GRCm39) |
R1692Q |
probably benign |
Het |
Nbas |
A |
G |
12: 13,402,809 (GRCm39) |
I788V |
probably benign |
Het |
Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,429,748 (GRCm39) |
|
probably null |
Het |
Or12k7 |
T |
G |
2: 36,958,449 (GRCm39) |
L44R |
probably damaging |
Het |
Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,303 (GRCm39) |
V44A |
probably benign |
Het |
Or5w17 |
T |
A |
2: 87,583,467 (GRCm39) |
Y290F |
probably damaging |
Het |
Pabpc1l |
G |
A |
2: 163,884,340 (GRCm39) |
G359D |
possibly damaging |
Het |
Plekhm2 |
TTCCTCCTCCT |
TTCCTCCT |
4: 141,359,292 (GRCm39) |
|
probably benign |
Het |
Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
Psma5-ps |
A |
G |
10: 85,149,457 (GRCm39) |
|
noncoding transcript |
Het |
Rfx8 |
A |
G |
1: 39,722,772 (GRCm39) |
S282P |
probably damaging |
Het |
Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
Slc30a6 |
T |
A |
17: 74,719,319 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
G |
A |
9: 110,035,153 (GRCm39) |
E859K |
possibly damaging |
Het |
Snx1 |
CTT |
CTTGTT |
9: 66,012,209 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,018,632 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
C |
A |
4: 132,984,162 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
A |
G |
4: 132,984,164 (GRCm39) |
|
probably benign |
Het |
Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
Terf2 |
T |
C |
8: 107,803,306 (GRCm39) |
K425E |
probably benign |
Het |
Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
Uck2 |
A |
T |
1: 167,062,280 (GRCm39) |
D149E |
probably benign |
Het |
Wnt5a |
G |
A |
14: 28,233,882 (GRCm39) |
A17T |
probably benign |
Het |
Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACTGACCCCTCCTGTTTCAGATG -3'
(R):5'- CCTAGAAGGAGTACACTTGCACTGC -3'
Sequencing Primer
(F):5'- CTCCTGTTTCAGATGGTGCTTG -3'
(R):5'- CTGAAAAGGTCTGCTCAATGC -3'
|
Posted On |
2013-09-03 |