Incidental Mutation 'R6343:Gpatch2l'
| ID |
514018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch2l
|
| Ensembl Gene |
ENSMUSG00000021254 |
| Gene Name |
G patch domain containing 2 like |
| Synonyms |
1700020O03Rik |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
86288632-86338558 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 86307379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 252
(Y252*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071106]
[ENSMUST00000221368]
|
| AlphaFold |
Q6PE65 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071106
AA Change: Y252*
|
| SMART Domains |
Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
AA Change: Y252*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220810
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221368
AA Change: Y252*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222299
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or5b12 |
G |
T |
19: 12,896,946 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Gpatch2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02335:Gpatch2l
|
APN |
12 |
86,303,711 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Gpatch2l
|
APN |
12 |
86,335,735 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03131:Gpatch2l
|
APN |
12 |
86,328,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0546:Gpatch2l
|
UTSW |
12 |
86,335,622 (GRCm39) |
makesense |
probably null |
|
|
R1349:Gpatch2l
|
UTSW |
12 |
86,307,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1368:Gpatch2l
|
UTSW |
12 |
86,307,439 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1600:Gpatch2l
|
UTSW |
12 |
86,303,708 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1701:Gpatch2l
|
UTSW |
12 |
86,335,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2656:Gpatch2l
|
UTSW |
12 |
86,335,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3150:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3176:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3177:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3276:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3277:Gpatch2l
|
UTSW |
12 |
86,291,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4342:Gpatch2l
|
UTSW |
12 |
86,307,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5161:Gpatch2l
|
UTSW |
12 |
86,313,950 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5712:Gpatch2l
|
UTSW |
12 |
86,291,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7010:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Gpatch2l
|
UTSW |
12 |
86,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Gpatch2l
|
UTSW |
12 |
86,335,711 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7239:Gpatch2l
|
UTSW |
12 |
86,307,349 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7327:Gpatch2l
|
UTSW |
12 |
86,303,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Gpatch2l
|
UTSW |
12 |
86,312,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8231:Gpatch2l
|
UTSW |
12 |
86,290,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Gpatch2l
|
UTSW |
12 |
86,308,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9189:Gpatch2l
|
UTSW |
12 |
86,291,152 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9284:Gpatch2l
|
UTSW |
12 |
86,290,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9432:Gpatch2l
|
UTSW |
12 |
86,307,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTGCTGTGCACTAAGAGGG -3'
(R):5'- TCAAAGGCGTGCAAGTGCTC -3'
Sequencing Primer
(F):5'- GGACTGGACAGCTTCTTTTGCAC -3'
(R):5'- GGGAACATAAAGCCATGCCCTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation