Incidental Mutation 'R9288:Qrich2'
| ID |
704101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrich2
|
| Ensembl Gene |
ENSMUSG00000070331 |
| Gene Name |
glutamine rich 2 |
| Synonyms |
LOC217341 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R9288 (G1)
|
| Quality Score |
126.466 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116332151-116357067 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (10 aa in frame mutation) |
| DNA Base Change (assembly) |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG to GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG
at 116348367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093909]
[ENSMUST00000208602]
|
| AlphaFold |
Q3V2A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093909
|
| SMART Domains |
Protein: ENSMUSP00000091437
Gene: ENSMUSG00000070331
| 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 |
probably benign
Transcript: ENSMUST00000208602
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,704,444 (GRCm39) |
D66G |
probably benign |
Het |
| Acot7 |
T |
A |
4: 152,291,263 (GRCm39) |
H76Q |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,474,391 (GRCm39) |
S91P |
probably damaging |
Het |
| Apba1 |
A |
G |
19: 23,923,145 (GRCm39) |
*843W |
probably null |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Asz1 |
A |
G |
6: 18,051,368 (GRCm39) |
I437T |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,712 (GRCm39) |
L387F |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,799,227 (GRCm39) |
I6V |
probably benign |
Het |
| C6 |
A |
C |
15: 4,835,532 (GRCm39) |
K770T |
|
Het |
| Cacna1g |
T |
A |
11: 94,308,897 (GRCm39) |
K1669* |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,123,512 (GRCm39) |
T1436I |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,286,918 (GRCm39) |
V913E |
unknown |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
A |
G |
10: 25,355,653 (GRCm39) |
T486A |
possibly damaging |
Het |
| Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,904,498 (GRCm38) |
D967A |
probably benign |
Het |
| Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
| Gm4553 |
GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA |
GCAGCCCCCACAGGA |
7: 141,719,025 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
G |
A |
1: 165,980,304 (GRCm39) |
M122I |
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,221,571 (GRCm39) |
E58G |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,336,773 (GRCm39) |
E1125G |
probably benign |
Het |
| Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
| Isx |
G |
T |
8: 75,619,439 (GRCm39) |
A197S |
probably benign |
Het |
| Klhl10 |
G |
T |
11: 100,347,719 (GRCm39) |
A592S |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
| Lpin3 |
C |
A |
2: 160,745,552 (GRCm39) |
N618K |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,522,858 (GRCm39) |
D701E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,443,458 (GRCm39) |
M178K |
possibly damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,159 (GRCm39) |
V158A |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,222,932 (GRCm39) |
F758I |
probably benign |
Het |
| Neb |
T |
G |
2: 52,051,403 (GRCm39) |
N6626H |
probably damaging |
Het |
| Nkd2 |
G |
T |
13: 73,995,177 (GRCm39) |
|
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,414,976 (GRCm39) |
K630R |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,976,049 (GRCm39) |
F2026Y |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,202 (GRCm39) |
|
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 12,904,402 (GRCm39) |
L589P |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,814,345 (GRCm39) |
K58E |
probably benign |
Het |
| Poll |
T |
C |
19: 45,547,281 (GRCm39) |
I64V |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,252,674 (GRCm39) |
E469G |
possibly damaging |
Het |
| Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
| Rft1 |
A |
T |
14: 30,383,415 (GRCm39) |
K152* |
probably null |
Het |
| Rnf180 |
CGAGG |
CGAGGAGG |
13: 105,386,781 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
C |
4: 126,916,627 (GRCm39) |
S275P |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,613,144 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,952,927 (GRCm39) |
F705L |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,856,827 (GRCm39) |
R26Q |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,692,308 (GRCm39) |
Y1052C |
probably damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,149 (GRCm39) |
D251G |
probably benign |
Het |
| Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
| Vdac2 |
C |
A |
14: 21,881,962 (GRCm39) |
P7T |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,323 (GRCm39) |
K334E |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,185 (GRCm39) |
S221T |
probably benign |
Het |
| Zfp608 |
G |
T |
18: 55,033,341 (GRCm39) |
N397K |
probably benign |
Het |
|
| Other mutations in Qrich2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4449:Qrich2
|
UTSW |
11 |
116,347,025 (GRCm39) |
small deletion |
probably benign |
|
|
R0122:Qrich2
|
UTSW |
11 |
116,337,639 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0157:Qrich2
|
UTSW |
11 |
116,332,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Qrich2
|
UTSW |
11 |
116,332,311 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1786:Qrich2
|
UTSW |
11 |
116,332,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Qrich2
|
UTSW |
11 |
116,337,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2130:Qrich2
|
UTSW |
11 |
116,339,243 (GRCm39) |
splice site |
probably benign |
|
|
R2178:Qrich2
|
UTSW |
11 |
116,334,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Qrich2
|
UTSW |
11 |
116,336,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Qrich2
|
UTSW |
11 |
116,337,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Qrich2
|
UTSW |
11 |
116,337,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Qrich2
|
UTSW |
11 |
116,337,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Qrich2
|
UTSW |
11 |
116,339,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Qrich2
|
UTSW |
11 |
116,336,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5589:Qrich2
|
UTSW |
11 |
116,332,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Qrich2
|
UTSW |
11 |
116,335,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Qrich2
|
UTSW |
11 |
116,337,832 (GRCm39) |
intron |
probably benign |
|
|
R6183:Qrich2
|
UTSW |
11 |
116,348,955 (GRCm39) |
unclassified |
probably benign |
|
|
R6193:Qrich2
|
UTSW |
11 |
116,344,979 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6211:Qrich2
|
UTSW |
11 |
116,344,368 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6375:Qrich2
|
UTSW |
11 |
116,349,054 (GRCm39) |
unclassified |
probably benign |
|
|
R6452:Qrich2
|
UTSW |
11 |
116,346,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6870:Qrich2
|
UTSW |
11 |
116,346,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7073:Qrich2
|
UTSW |
11 |
116,337,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7552:Qrich2
|
UTSW |
11 |
116,347,080 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7585:Qrich2
|
UTSW |
11 |
116,346,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7586:Qrich2
|
UTSW |
11 |
116,346,450 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7588:Qrich2
|
UTSW |
11 |
116,356,763 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7633:Qrich2
|
UTSW |
11 |
116,347,455 (GRCm39) |
missense |
unknown |
|
|
R7638:Qrich2
|
UTSW |
11 |
116,346,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7736:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R7737:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R7753:Qrich2
|
UTSW |
11 |
116,347,868 (GRCm39) |
small deletion |
probably benign |
|
|
R7800:Qrich2
|
UTSW |
11 |
116,347,686 (GRCm39) |
nonsense |
probably null |
|
|
R7833:Qrich2
|
UTSW |
11 |
116,346,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7912:Qrich2
|
UTSW |
11 |
116,346,608 (GRCm39) |
small deletion |
probably benign |
|
|
R7923:Qrich2
|
UTSW |
11 |
116,348,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Qrich2
|
UTSW |
11 |
116,347,861 (GRCm39) |
small deletion |
probably benign |
|
|
R8225:Qrich2
|
UTSW |
11 |
116,344,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Qrich2
|
UTSW |
11 |
116,347,175 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8391:Qrich2
|
UTSW |
11 |
116,356,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8705:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R8792:Qrich2
|
UTSW |
11 |
116,347,456 (GRCm39) |
missense |
unknown |
|
|
R8912:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9025:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9121:Qrich2
|
UTSW |
11 |
116,347,272 (GRCm39) |
missense |
unknown |
|
|
R9130:Qrich2
|
UTSW |
11 |
116,347,692 (GRCm39) |
nonsense |
probably null |
|
|
R9219:Qrich2
|
UTSW |
11 |
116,335,900 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9254:Qrich2
|
UTSW |
11 |
116,348,934 (GRCm39) |
missense |
unknown |
|
|
R9256:Qrich2
|
UTSW |
11 |
116,356,450 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9379:Qrich2
|
UTSW |
11 |
116,348,934 (GRCm39) |
missense |
unknown |
|
|
R9448:Qrich2
|
UTSW |
11 |
116,338,091 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9521:Qrich2
|
UTSW |
11 |
116,339,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Qrich2
|
UTSW |
11 |
116,337,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
|
R9639:Qrich2
|
UTSW |
11 |
116,346,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9694:Qrich2
|
UTSW |
11 |
116,337,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Qrich2
|
UTSW |
11 |
116,347,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Qrich2
|
UTSW |
11 |
116,347,494 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCAGGCTGAACTGAACC -3'
(R):5'- GGCACAACCACATGGAATTC -3'
Sequencing Primer
(F):5'- TGAGCTGCACCTGCTTG -3'
(R):5'- ACCACATGGAATTCTGCCTGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation