Incidental Mutation 'R6375:Qrich2'
ID |
514929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qrich2
|
Ensembl Gene |
ENSMUSG00000070331 |
Gene Name |
glutamine rich 2 |
Synonyms |
LOC217341 |
MMRRC Submission |
044525-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6375 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
116332151-116357067 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 116349054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091437
(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 |
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 |
unknown
Transcript: ENSMUST00000208602
AA Change: V590A
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,084 (GRCm39) |
N526D |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
Il1r1 |
T |
A |
1: 40,334,050 (GRCm39) |
Y207N |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,622,960 (GRCm39) |
T80A |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
Tmc5 |
T |
A |
7: 118,256,037 (GRCm39) |
V704E |
probably damaging |
Het |
Tmem39a |
A |
G |
16: 38,405,599 (GRCm39) |
T59A |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
probably damaging |
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 |
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 |
R9288:Qrich2
|
UTSW |
11 |
116,348,367 (GRCm39) |
small deletion |
probably benign |
|
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'- GTTGAACCCAAACAGGCTG -3'
(R):5'- AGTCCAGCTTAACGTCACGC -3'
Sequencing Primer
(F):5'- TAGACCTTGCTGATCTGCACCAAG -3'
(R):5'- ACGCTTTATACAACCTGGTGCAG -3'
|
Posted On |
2018-05-04 |