Incidental Mutation 'R5400:Qser1'
| ID |
429918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qser1
|
| Ensembl Gene |
ENSMUSG00000074994 |
| Gene Name |
glutamine and serine rich 1 |
| Synonyms |
4732486I23Rik |
| MMRRC Submission |
042971-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R5400 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104754795-104816760 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104789874 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 198
(S198P)
|
| 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: S108P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114062
Gene: ENSMUSG00000074994
AA Change: S108P
| 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: S198P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1259 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330182L06Rik |
A |
T |
5: 9,479,247 (GRCm38) |
N1027Y |
probably damaging |
Het |
| Accsl |
T |
C |
2: 93,859,422 (GRCm38) |
D380G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,551,398 (GRCm38) |
L567P |
possibly damaging |
Het |
| AI481877 |
A |
G |
4: 59,082,432 (GRCm38) |
S399P |
possibly damaging |
Het |
| Anks1b |
A |
T |
10: 90,512,824 (GRCm38) |
I785L |
probably damaging |
Het |
| Arpc5l |
G |
A |
2: 39,013,735 (GRCm38) |
G79S |
probably benign |
Het |
| Arvcf |
G |
T |
16: 18,399,070 (GRCm38) |
R440L |
probably benign |
Het |
| Atm |
T |
C |
9: 53,503,018 (GRCm38) |
D924G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,545,989 (GRCm38) |
|
probably null |
Het |
| Cd19 |
C |
T |
7: 126,414,452 (GRCm38) |
G55D |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,938,958 (GRCm38) |
|
probably benign |
Het |
| Cd69 |
T |
A |
6: 129,269,991 (GRCm38) |
M88L |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,018,425 (GRCm38) |
E397G |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,010,002 (GRCm38) |
F1306L |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 149,000,016 (GRCm38) |
E1124G |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,306,988 (GRCm38) |
M44K |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,603,595 (GRCm38) |
D188G |
probably damaging |
Het |
| Epha10 |
C |
T |
4: 124,914,121 (GRCm38) |
|
probably benign |
Het |
| Fam120b |
A |
T |
17: 15,403,126 (GRCm38) |
L455F |
possibly damaging |
Het |
| Flt4 |
AC |
ACC |
11: 49,651,034 (GRCm38) |
|
probably null |
Het |
| Gm38394 |
G |
A |
1: 133,658,141 (GRCm38) |
T486I |
probably damaging |
Het |
| Incenp |
A |
G |
19: 9,877,675 (GRCm38) |
|
probably null |
Het |
| Kansl3 |
A |
G |
1: 36,358,149 (GRCm38) |
V86A |
possibly damaging |
Het |
| Klhl7 |
C |
G |
5: 24,126,920 (GRCm38) |
F73L |
probably damaging |
Het |
| Med28 |
T |
A |
5: 45,525,199 (GRCm38) |
V69D |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,864,553 (GRCm38) |
L98Q |
probably damaging |
Het |
| Mknk1 |
C |
A |
4: 115,864,552 (GRCm38) |
L98M |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,105,380 (GRCm38) |
C97S |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,395,908 (GRCm38) |
H9R |
possibly damaging |
Het |
| Olfr1230 |
T |
C |
2: 89,296,913 (GRCm38) |
D119G |
probably damaging |
Het |
| Olfr317 |
T |
C |
11: 58,732,320 (GRCm38) |
T282A |
possibly damaging |
Het |
| Olfr354 |
A |
T |
2: 36,907,821 (GRCm38) |
I292F |
probably damaging |
Het |
| Olfr78 |
G |
A |
7: 102,742,430 (GRCm38) |
T191I |
probably benign |
Het |
| Omd |
A |
T |
13: 49,592,227 (GRCm38) |
E371V |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,062,300 (GRCm38) |
Y733* |
probably null |
Het |
| Pcdh12 |
A |
T |
18: 38,268,898 (GRCm38) |
S91R |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
| Recql |
T |
G |
6: 142,362,347 (GRCm38) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 21,979,714 (GRCm38) |
D1601G |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,609,034 (GRCm38) |
D1922G |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,769,908 (GRCm38) |
R1185S |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,301,842 (GRCm38) |
C37* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,344,393 (GRCm38) |
Q436* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 94,712,901 (GRCm38) |
F155I |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm38) |
K1193M |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,412,834 (GRCm38) |
T80A |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,804,602 (GRCm38) |
I584T |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,417,054 (GRCm38) |
F324L |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,500,193 (GRCm38) |
V1236A |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,928,211 (GRCm38) |
N301S |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,294,917 (GRCm38) |
V476I |
probably benign |
Het |
| Zbtb25 |
C |
A |
12: 76,349,702 (GRCm38) |
E249* |
probably null |
Het |
| Zfp54 |
C |
A |
17: 21,433,700 (GRCm38) |
T152K |
probably benign |
Het |
|
| Other mutations in Qser1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Qser1
|
APN |
2 |
104,766,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00402:Qser1
|
APN |
2 |
104,786,981 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00417:Qser1
|
APN |
2 |
104,786,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00756:Qser1
|
APN |
2 |
104,787,671 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL01304:Qser1
|
APN |
2 |
104,787,631 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01317:Qser1
|
APN |
2 |
104,786,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02186:Qser1
|
APN |
2 |
104,788,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03236:Qser1
|
APN |
2 |
104,786,532 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL03365:Qser1
|
APN |
2 |
104,786,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Behoove
|
UTSW |
2 |
104,786,977 (GRCm38) |
nonsense |
probably null |
|
|
I1329:Qser1
|
UTSW |
2 |
104,786,977 (GRCm38) |
nonsense |
probably null |
|
|
R0270:Qser1
|
UTSW |
2 |
104,788,961 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0395:Qser1
|
UTSW |
2 |
104,762,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0523:Qser1
|
UTSW |
2 |
104,789,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0727:Qser1
|
UTSW |
2 |
104,777,311 (GRCm38) |
splice site |
probably benign |
|
|
R1037:Qser1
|
UTSW |
2 |
104,760,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1222:Qser1
|
UTSW |
2 |
104,777,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1418:Qser1
|
UTSW |
2 |
104,777,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1891:Qser1
|
UTSW |
2 |
104,790,099 (GRCm38) |
missense |
probably benign |
|
|
R1974:Qser1
|
UTSW |
2 |
104,760,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2200:Qser1
|
UTSW |
2 |
104,789,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4179:Qser1
|
UTSW |
2 |
104,776,384 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4379:Qser1
|
UTSW |
2 |
104,766,059 (GRCm38) |
splice site |
probably null |
|
|
R4418:Qser1
|
UTSW |
2 |
104,789,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4585:Qser1
|
UTSW |
2 |
104,786,793 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4697:Qser1
|
UTSW |
2 |
104,787,183 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4749:Qser1
|
UTSW |
2 |
104,787,304 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4775:Qser1
|
UTSW |
2 |
104,789,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5010:Qser1
|
UTSW |
2 |
104,787,831 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5070:Qser1
|
UTSW |
2 |
104,787,282 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R5268:Qser1
|
UTSW |
2 |
104,787,431 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5384:Qser1
|
UTSW |
2 |
104,786,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5502:Qser1
|
UTSW |
2 |
104,786,574 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5615:Qser1
|
UTSW |
2 |
104,789,694 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5664:Qser1
|
UTSW |
2 |
104,778,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5750:Qser1
|
UTSW |
2 |
104,788,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5793:Qser1
|
UTSW |
2 |
104,762,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6035:Qser1
|
UTSW |
2 |
104,787,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6035:Qser1
|
UTSW |
2 |
104,787,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6171:Qser1
|
UTSW |
2 |
104,789,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6223:Qser1
|
UTSW |
2 |
104,787,648 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6254:Qser1
|
UTSW |
2 |
104,790,090 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6303:Qser1
|
UTSW |
2 |
104,762,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6653:Qser1
|
UTSW |
2 |
104,780,260 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6703:Qser1
|
UTSW |
2 |
104,777,325 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6970:Qser1
|
UTSW |
2 |
104,788,130 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7064:Qser1
|
UTSW |
2 |
104,787,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7478:Qser1
|
UTSW |
2 |
104,789,514 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7643:Qser1
|
UTSW |
2 |
104,786,977 (GRCm38) |
nonsense |
probably null |
|
|
R7769:Qser1
|
UTSW |
2 |
104,758,576 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7836:Qser1
|
UTSW |
2 |
104,776,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7938:Qser1
|
UTSW |
2 |
104,788,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8209:Qser1
|
UTSW |
2 |
104,788,725 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8218:Qser1
|
UTSW |
2 |
104,762,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8226:Qser1
|
UTSW |
2 |
104,788,725 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8341:Qser1
|
UTSW |
2 |
104,789,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8362:Qser1
|
UTSW |
2 |
104,789,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8785:Qser1
|
UTSW |
2 |
104,787,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8983:Qser1
|
UTSW |
2 |
104,787,357 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9051:Qser1
|
UTSW |
2 |
104,762,947 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9165:Qser1
|
UTSW |
2 |
104,788,470 (GRCm38) |
missense |
probably benign |
0.41 |
|
R9289:Qser1
|
UTSW |
2 |
104,787,248 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9342:Qser1
|
UTSW |
2 |
104,787,819 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9380:Qser1
|
UTSW |
2 |
104,789,346 (GRCm38) |
nonsense |
probably null |
|
|
R9736:Qser1
|
UTSW |
2 |
104,789,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
T0722:Qser1
|
UTSW |
2 |
104,786,832 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCTGAATAGACTGGGTAAC -3'
(R):5'- AGAAACTTTGCGACCACCTC -3'
Sequencing Primer
(F):5'- TAACTGAAGGCCGCTGGTG -3'
(R):5'- ACCTTTGGTGCTTCAAGATTCATC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation