Incidental Mutation 'R6703:Qser1'
ID |
528260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qser1
|
Ensembl Gene |
ENSMUSG00000074994 |
Gene Name |
glutamine and serine rich 1 |
Synonyms |
4732486I23Rik |
MMRRC Submission |
044821-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.622)
|
Stock # |
R6703 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
104585140-104647105 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 104607670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1416
(T1416I)
|
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: T1416I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114062 Gene: ENSMUSG00000074994 AA Change: T1416I
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: T1506I
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
T |
A |
10: 21,497,558 (GRCm39) |
Y66* |
probably null |
Het |
Akap13 |
T |
C |
7: 75,252,646 (GRCm39) |
S259P |
probably damaging |
Het |
Aoc1 |
A |
C |
6: 48,882,648 (GRCm39) |
T197P |
probably damaging |
Het |
Blnk |
A |
T |
19: 40,950,950 (GRCm39) |
|
probably null |
Het |
Ccser1 |
A |
T |
6: 61,615,495 (GRCm39) |
K94* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,704,596 (GRCm39) |
D2828V |
unknown |
Het |
Clec4n |
A |
G |
6: 123,212,553 (GRCm39) |
Q89R |
probably null |
Het |
Col6a3 |
T |
C |
1: 90,707,161 (GRCm39) |
D1984G |
unknown |
Het |
Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,100,608 (GRCm39) |
T93A |
probably benign |
Het |
Dna2 |
T |
A |
10: 62,809,073 (GRCm39) |
I1055N |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 162,146,256 (GRCm39) |
F296L |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,834,909 (GRCm39) |
E1822G |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,690,849 (GRCm39) |
|
probably null |
Het |
Dyrk4 |
A |
T |
6: 126,867,045 (GRCm39) |
I329N |
probably damaging |
Het |
E4f1 |
C |
A |
17: 24,666,105 (GRCm39) |
R231L |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,406,083 (GRCm39) |
T945A |
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,502,106 (GRCm39) |
M99K |
probably damaging |
Het |
Flad1 |
T |
C |
3: 89,315,897 (GRCm39) |
S222G |
probably benign |
Het |
H1f7 |
C |
A |
15: 98,155,153 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
T |
C |
12: 113,268,653 (GRCm39) |
|
probably benign |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Itln1 |
C |
T |
1: 171,358,151 (GRCm39) |
C199Y |
probably damaging |
Het |
Kctd3 |
G |
A |
1: 188,728,726 (GRCm39) |
R137C |
probably damaging |
Het |
Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
Larp7 |
C |
T |
3: 127,337,873 (GRCm39) |
M395I |
probably damaging |
Het |
Lpcat3 |
C |
T |
6: 124,640,185 (GRCm39) |
A5V |
probably benign |
Het |
Lrrc43 |
C |
T |
5: 123,637,532 (GRCm39) |
T233M |
possibly damaging |
Het |
Map4k1 |
T |
G |
7: 28,701,821 (GRCm39) |
S803A |
possibly damaging |
Het |
Mef2c |
T |
A |
13: 83,773,525 (GRCm39) |
C134S |
possibly damaging |
Het |
Mgst2 |
T |
C |
3: 51,572,033 (GRCm39) |
|
probably null |
Het |
Mug2 |
T |
G |
6: 122,055,653 (GRCm39) |
I1112R |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,383,818 (GRCm39) |
I1622V |
probably benign |
Het |
Ndor1 |
A |
G |
2: 25,139,902 (GRCm39) |
F142S |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,284,205 (GRCm39) |
S160P |
probably damaging |
Het |
Nudt16l2 |
T |
C |
9: 105,021,758 (GRCm39) |
Y96C |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,101,935 (GRCm39) |
T535A |
possibly damaging |
Het |
Or2m13 |
T |
C |
16: 19,226,122 (GRCm39) |
I215V |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,688 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,454 (GRCm39) |
|
probably null |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,335,734 (GRCm39) |
V683M |
possibly damaging |
Het |
Per2 |
C |
T |
1: 91,355,671 (GRCm39) |
E696K |
probably damaging |
Het |
Pif1 |
T |
C |
9: 65,500,545 (GRCm39) |
V490A |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,309,250 (GRCm39) |
Y219N |
probably benign |
Het |
Ppl |
T |
G |
16: 4,907,328 (GRCm39) |
E989A |
probably damaging |
Het |
Prkdc |
T |
G |
16: 15,488,392 (GRCm39) |
S505A |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,321 (GRCm39) |
L35P |
probably damaging |
Het |
Ptges |
A |
G |
2: 30,793,133 (GRCm39) |
V33A |
possibly damaging |
Het |
Rab3a |
A |
G |
8: 71,209,095 (GRCm39) |
D77G |
probably damaging |
Het |
Rtn3 |
A |
T |
19: 7,412,410 (GRCm39) |
V788D |
probably damaging |
Het |
Rtn4r |
T |
C |
16: 17,969,055 (GRCm39) |
L161P |
probably damaging |
Het |
Rtn4rl1 |
G |
A |
11: 75,156,354 (GRCm39) |
R262Q |
probably benign |
Het |
S1pr3 |
A |
T |
13: 51,573,475 (GRCm39) |
I219F |
probably damaging |
Het |
Sec23b |
A |
T |
2: 144,401,109 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 80,029,203 (GRCm39) |
E522G |
probably damaging |
Het |
Slc27a6 |
A |
G |
18: 58,742,911 (GRCm39) |
N533S |
probably benign |
Het |
Slc39a5 |
T |
A |
10: 128,233,651 (GRCm39) |
D282V |
probably damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,304,967 (GRCm39) |
I109T |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,982,497 (GRCm39) |
V361E |
probably damaging |
Het |
Sox5 |
G |
T |
6: 143,779,191 (GRCm39) |
S648R |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,799,842 (GRCm39) |
S2161N |
probably benign |
Het |
Sptbn2 |
C |
A |
19: 4,799,843 (GRCm39) |
S2161R |
probably benign |
Het |
St6galnac2 |
A |
G |
11: 116,575,213 (GRCm39) |
S209P |
probably benign |
Het |
Tmub1 |
T |
C |
5: 24,651,944 (GRCm39) |
S7G |
probably benign |
Het |
Trarg1 |
A |
T |
11: 76,584,988 (GRCm39) |
|
probably null |
Het |
Trpm5 |
C |
A |
7: 142,623,055 (GRCm39) |
|
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp438 |
A |
G |
18: 5,214,044 (GRCm39) |
S305P |
probably benign |
Het |
Zfp780b |
T |
C |
7: 27,671,066 (GRCm39) |
T81A |
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 |
|
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 |
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'- TGGCAAAGAGGGCTTCTGAG -3'
(R):5'- GGGTGGCTGTGAACTTAACAG -3'
Sequencing Primer
(F):5'- GGCTTCTGAGAAGTTCTGTCACAAAG -3'
(R):5'- GGGTATTTTGGAGATGCAAA -3'
|
Posted On |
2018-07-24 |