Incidental Mutation 'IGL01446:Gulp1'
| ID |
84444 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gulp1
|
| Ensembl Gene |
ENSMUSG00000056870 |
| Gene Name |
GULP, engulfment adaptor PTB domain containing 1 |
| Synonyms |
CED-6, 3110030A04Rik, Ced6, GULP, 5730529O06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL01446
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
44590671-44835998 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 44783708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074525]
[ENSMUST00000159555]
[ENSMUST00000160854]
[ENSMUST00000162600]
|
| AlphaFold |
Q8K2A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074525
|
| SMART Domains |
Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
22 |
158 |
1.11e-38 |
SMART |
|
coiled coil region
|
159 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160854
|
| SMART Domains |
Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
22 |
158 |
1.11e-38 |
SMART |
|
coiled coil region
|
159 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162600
|
| SMART Domains |
Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
22 |
158 |
1.11e-38 |
SMART |
|
coiled coil region
|
178 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186732
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,377,677 (GRCm39) |
V401M |
probably damaging |
Het |
| Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
| Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,735,560 (GRCm39) |
M904K |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
| Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
| Ell2 |
G |
T |
13: 75,910,110 (GRCm39) |
L285F |
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
| Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
| Hdgfl2 |
C |
T |
17: 56,404,281 (GRCm39) |
R332C |
possibly damaging |
Het |
| Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
| Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
| Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
| Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,306,042 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
| Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
| Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
| Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
| Other mutations in Gulp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02439:Gulp1
|
APN |
1 |
44,820,164 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03410:Gulp1
|
APN |
1 |
44,747,777 (GRCm39) |
missense |
probably damaging |
0.97 |
|
guzzle
|
UTSW |
1 |
44,747,829 (GRCm39) |
nonsense |
probably null |
|
|
R1746:Gulp1
|
UTSW |
1 |
44,793,513 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1990:Gulp1
|
UTSW |
1 |
44,805,274 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4166:Gulp1
|
UTSW |
1 |
44,747,829 (GRCm39) |
nonsense |
probably null |
|
|
R4895:Gulp1
|
UTSW |
1 |
44,827,757 (GRCm39) |
missense |
probably benign |
|
|
R5208:Gulp1
|
UTSW |
1 |
44,820,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5244:Gulp1
|
UTSW |
1 |
44,827,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Gulp1
|
UTSW |
1 |
44,812,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5911:Gulp1
|
UTSW |
1 |
44,793,534 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6164:Gulp1
|
UTSW |
1 |
44,793,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6503:Gulp1
|
UTSW |
1 |
44,812,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Gulp1
|
UTSW |
1 |
44,820,245 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7091:Gulp1
|
UTSW |
1 |
44,805,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7207:Gulp1
|
UTSW |
1 |
44,805,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8219:Gulp1
|
UTSW |
1 |
44,793,501 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8669:Gulp1
|
UTSW |
1 |
44,805,270 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9001:Gulp1
|
UTSW |
1 |
44,827,709 (GRCm39) |
missense |
probably benign |
|
|
R9037:Gulp1
|
UTSW |
1 |
44,793,524 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9304:Gulp1
|
UTSW |
1 |
44,793,593 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Gulp1
|
UTSW |
1 |
44,827,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation