Incidental Mutation 'R1600:Gpatch2l'
| ID |
176105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpatch2l
|
| Ensembl Gene |
ENSMUSG00000021254 |
| Gene Name |
G patch domain containing 2 like |
| Synonyms |
1700020O03Rik |
| MMRRC Submission |
039637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1600 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
86288632-86338558 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 86303708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071106]
[ENSMUST00000071106]
[ENSMUST00000221368]
|
| AlphaFold |
Q6PE65 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071106
|
| SMART Domains |
Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
| 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 |
probably null
Transcript: ENSMUST00000071106
|
| SMART Domains |
Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222299
|
| Meta Mutation Damage Score |
0.9501 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
85% (41/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,881,174 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
C |
T |
12: 84,105,484 (GRCm39) |
A317V |
probably benign |
Het |
| Ahrr |
T |
C |
13: 74,362,497 (GRCm39) |
D334G |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,511,108 (GRCm39) |
V30M |
probably damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,021,158 (GRCm39) |
H281N |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,521,662 (GRCm39) |
M175T |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,484,295 (GRCm39) |
|
probably benign |
Het |
| Ccnj |
A |
T |
19: 40,833,101 (GRCm39) |
|
probably benign |
Het |
| Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,655,274 (GRCm39) |
S816P |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,173,954 (GRCm39) |
R64G |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,748 (GRCm39) |
C126* |
probably null |
Het |
| Ercc2 |
T |
C |
7: 19,119,866 (GRCm39) |
Y176H |
probably benign |
Het |
| Frem2 |
T |
G |
3: 53,455,144 (GRCm39) |
D2144A |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,384,822 (GRCm39) |
Y246* |
probably null |
Het |
| Grk1 |
A |
G |
8: 13,455,406 (GRCm39) |
T97A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,320,799 (GRCm39) |
E4004G |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,339,821 (GRCm39) |
R46S |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,389 (GRCm39) |
S265P |
probably damaging |
Het |
| Lyve1 |
A |
G |
7: 110,452,902 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,272,479 (GRCm39) |
Y659C |
probably damaging |
Het |
| Mrs2 |
G |
T |
13: 25,179,393 (GRCm39) |
N299K |
possibly damaging |
Het |
| Mtnr1b |
T |
C |
9: 15,774,615 (GRCm39) |
Y148C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,846,611 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,161,616 (GRCm39) |
Y2059H |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,528 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,757,080 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,537 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,842,450 (GRCm39) |
T458A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,041,430 (GRCm39) |
V448I |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,970,136 (GRCm39) |
G251D |
possibly damaging |
Het |
| Tcstv7b |
T |
C |
13: 120,702,369 (GRCm39) |
V55A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,808,958 (GRCm39) |
Q711* |
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,116,519 (GRCm39) |
R13G |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,085,247 (GRCm39) |
A628S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,643,636 (GRCm39) |
N2080S |
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,221,015 (GRCm39) |
I221N |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,175,355 (GRCm39) |
W47R |
possibly damaging |
Het |
| Zswim9 |
A |
G |
7: 13,003,497 (GRCm39) |
C118R |
probably 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 |
|
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 |
|
R6343:Gpatch2l
|
UTSW |
12 |
86,307,379 (GRCm39) |
nonsense |
probably null |
|
|
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'- GGCTAATGGGCTGAAGTGCAGTTAC -3'
(R):5'- GTCCCAAAGCTGGAACCAAGAGTG -3'
Sequencing Primer
(F):5'- CAGTTACAGAGACAGTTGGAATATCC -3'
(R):5'- agttaagagtgtggtcttccag -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation