Incidental Mutation 'R4378:Qrich2'
| ID |
325208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich2
|
| Ensembl Gene |
ENSMUSG00000070331 |
| Gene Name |
glutamine rich 2 |
| Synonyms |
LOC217341 |
| MMRRC Submission |
041121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116441325-116466241 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116446915 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1916
(S1916G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093909]
[ENSMUST00000208602]
|
| AlphaFold |
Q3V2A7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093909
AA Change: S171G
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
AA Change: S171G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
Pfam:DUF4795
|
97 |
304 |
3.7e-71 |
PFAM |
|
low complexity region
|
471 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134182
|
| SMART Domains |
Protein: ENSMUSP00000115947
Gene: ENSMUSG00000070331
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MYSc
|
1 |
287 |
4e-80 |
BLAST |
|
coiled coil region
|
336 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140697
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208602
AA Change: S1916G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,293,644 (GRCm38) |
K1836E |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,203,210 (GRCm38) |
F241S |
probably damaging |
Het |
| Akt1s1 |
C |
T |
7: 44,853,960 (GRCm38) |
T168M |
probably damaging |
Het |
| Amigo1 |
C |
T |
3: 108,191,753 (GRCm38) |
|
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,245,978 (GRCm38) |
F188L |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,993,082 (GRCm38) |
T29A |
possibly damaging |
Het |
| Axl |
G |
A |
7: 25,758,837 (GRCm38) |
A822V |
probably benign |
Het |
| Borcs5 |
T |
C |
6: 134,644,329 (GRCm38) |
V21A |
probably benign |
Het |
| Cdc42ep3 |
A |
G |
17: 79,334,979 (GRCm38) |
S171P |
probably benign |
Het |
| Cmas |
T |
C |
6: 142,772,285 (GRCm38) |
|
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,668,029 (GRCm38) |
N158S |
probably null |
Het |
| Dnah6 |
G |
T |
6: 73,118,026 (GRCm38) |
N2139K |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,373,116 (GRCm38) |
H409L |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,815,687 (GRCm38) |
V584E |
probably damaging |
Het |
| Gm7271 |
A |
G |
5: 76,500,533 (GRCm38) |
K62R |
probably damaging |
Het |
| Gm9116 |
A |
G |
3: 93,910,479 (GRCm38) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,733,200 (GRCm38) |
S101G |
probably benign |
Het |
| Hsph1 |
C |
A |
5: 149,636,007 (GRCm38) |
E24* |
probably null |
Het |
| Ighv1-56 |
C |
T |
12: 115,242,948 (GRCm38) |
E50K |
probably benign |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,202,364 (GRCm38) |
D859E |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,493,667 (GRCm38) |
S71L |
probably damaging |
Het |
| Nars |
A |
G |
18: 64,501,353 (GRCm38) |
Y500H |
probably damaging |
Het |
| Olfr1165-ps |
G |
T |
2: 88,101,485 (GRCm38) |
N167K |
unknown |
Het |
| Olfr3 |
T |
C |
2: 36,812,469 (GRCm38) |
M208V |
probably benign |
Het |
| Phc1 |
T |
C |
6: 122,335,007 (GRCm38) |
N64S |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,209,450 (GRCm38) |
N180K |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 46,576,183 (GRCm38) |
|
probably benign |
Het |
| Prtg |
T |
C |
9: 72,842,760 (GRCm38) |
S149P |
possibly damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,597,937 (GRCm38) |
Y218N |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,856,618 (GRCm38) |
D1278G |
possibly damaging |
Het |
| Sirt1 |
C |
T |
10: 63,338,949 (GRCm38) |
A8T |
probably benign |
Het |
| Sobp |
C |
T |
10: 43,021,304 (GRCm38) |
V762I |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 30,025,569 (GRCm38) |
S1994P |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,209,571 (GRCm38) |
I87T |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,366,708 (GRCm38) |
Y1168C |
probably damaging |
Het |
| Trhr |
A |
G |
15: 44,197,627 (GRCm38) |
Y181C |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,383,798 (GRCm38) |
D174N |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,410,440 (GRCm38) |
H1067Y |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,452,600 (GRCm38) |
I344T |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,413,289 (GRCm38) |
L153* |
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,987,180 (GRCm38) |
D736E |
probably benign |
Het |
| Zfp612 |
G |
T |
8: 110,089,051 (GRCm38) |
V258F |
possibly damaging |
Het |
|
| Other mutations in Qrich2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4449:Qrich2
|
UTSW |
11 |
116,456,199 (GRCm38) |
small deletion |
probably benign |
|
|
R0122:Qrich2
|
UTSW |
11 |
116,446,813 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0157:Qrich2
|
UTSW |
11 |
116,441,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Qrich2
|
UTSW |
11 |
116,441,485 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1786:Qrich2
|
UTSW |
11 |
116,441,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2115:Qrich2
|
UTSW |
11 |
116,447,156 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2130:Qrich2
|
UTSW |
11 |
116,448,417 (GRCm38) |
splice site |
probably benign |
|
|
R2178:Qrich2
|
UTSW |
11 |
116,443,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3875:Qrich2
|
UTSW |
11 |
116,445,651 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5124:Qrich2
|
UTSW |
11 |
116,446,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5362:Qrich2
|
UTSW |
11 |
116,447,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5468:Qrich2
|
UTSW |
11 |
116,448,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5493:Qrich2
|
UTSW |
11 |
116,445,948 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5589:Qrich2
|
UTSW |
11 |
116,441,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5696:Qrich2
|
UTSW |
11 |
116,445,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6046:Qrich2
|
UTSW |
11 |
116,447,006 (GRCm38) |
intron |
probably benign |
|
|
R6183:Qrich2
|
UTSW |
11 |
116,458,129 (GRCm38) |
unclassified |
probably benign |
|
|
R6193:Qrich2
|
UTSW |
11 |
116,454,153 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6211:Qrich2
|
UTSW |
11 |
116,453,542 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6375:Qrich2
|
UTSW |
11 |
116,458,228 (GRCm38) |
unclassified |
probably benign |
|
|
R6452:Qrich2
|
UTSW |
11 |
116,455,888 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6870:Qrich2
|
UTSW |
11 |
116,455,330 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7073:Qrich2
|
UTSW |
11 |
116,446,875 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7552:Qrich2
|
UTSW |
11 |
116,456,254 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7585:Qrich2
|
UTSW |
11 |
116,455,721 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7586:Qrich2
|
UTSW |
11 |
116,455,624 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7588:Qrich2
|
UTSW |
11 |
116,465,937 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7633:Qrich2
|
UTSW |
11 |
116,456,629 (GRCm38) |
missense |
unknown |
|
|
R7638:Qrich2
|
UTSW |
11 |
116,455,322 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7736:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R7737:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R7753:Qrich2
|
UTSW |
11 |
116,457,042 (GRCm38) |
small deletion |
probably benign |
|
|
R7800:Qrich2
|
UTSW |
11 |
116,456,860 (GRCm38) |
nonsense |
probably null |
|
|
R7833:Qrich2
|
UTSW |
11 |
116,455,765 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7912:Qrich2
|
UTSW |
11 |
116,455,782 (GRCm38) |
small deletion |
probably benign |
|
|
R7923:Qrich2
|
UTSW |
11 |
116,457,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8197:Qrich2
|
UTSW |
11 |
116,457,035 (GRCm38) |
small deletion |
probably benign |
|
|
R8225:Qrich2
|
UTSW |
11 |
116,454,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8300:Qrich2
|
UTSW |
11 |
116,456,349 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8391:Qrich2
|
UTSW |
11 |
116,465,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8705:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R8792:Qrich2
|
UTSW |
11 |
116,456,630 (GRCm38) |
missense |
unknown |
|
|
R8912:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9025:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9121:Qrich2
|
UTSW |
11 |
116,456,446 (GRCm38) |
missense |
unknown |
|
|
R9130:Qrich2
|
UTSW |
11 |
116,456,866 (GRCm38) |
nonsense |
probably null |
|
|
R9219:Qrich2
|
UTSW |
11 |
116,445,074 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R9254:Qrich2
|
UTSW |
11 |
116,458,108 (GRCm38) |
missense |
unknown |
|
|
R9256:Qrich2
|
UTSW |
11 |
116,465,624 (GRCm38) |
missense |
probably benign |
0.10 |
|
R9288:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9379:Qrich2
|
UTSW |
11 |
116,458,108 (GRCm38) |
missense |
unknown |
|
|
R9448:Qrich2
|
UTSW |
11 |
116,447,265 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9521:Qrich2
|
UTSW |
11 |
116,448,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9620:Qrich2
|
UTSW |
11 |
116,447,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9631:Qrich2
|
UTSW |
11 |
116,457,541 (GRCm38) |
small deletion |
probably benign |
|
|
R9639:Qrich2
|
UTSW |
11 |
116,456,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9694:Qrich2
|
UTSW |
11 |
116,447,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Qrich2
|
UTSW |
11 |
116,456,378 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Qrich2
|
UTSW |
11 |
116,456,668 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATCGATCTATGCTTGCAG -3'
(R):5'- GCACCTGGAGATGGAGATTG -3'
Sequencing Primer
(F):5'- ATCGATCTATGCTTGCAGAGAGC -3'
(R):5'- TGGAGATTGATGAGGTGAGCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation