Incidental Mutation 'IGL02439:Gulp1'
ID |
293381 |
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 # |
IGL02439
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
44590671-44835998 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44820164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 216
(I216F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074525]
[ENSMUST00000159555]
[ENSMUST00000160854]
[ENSMUST00000162600]
|
AlphaFold |
Q8K2A1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074525
AA Change: I216F
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074115 Gene: ENSMUSG00000056870 AA Change: I216F
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 damaging
Transcript: ENSMUST00000160854
AA Change: I216F
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125506 Gene: ENSMUSG00000056870 AA Change: I216F
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 |
possibly damaging
Transcript: ENSMUST00000162600
AA Change: I224F
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124756 Gene: ENSMUSG00000056870 AA Change: I224F
Domain | Start | End | E-Value | Type |
PTB
|
22 |
158 |
1.11e-38 |
SMART |
coiled coil region
|
178 |
210 |
N/A |
INTRINSIC |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
A |
T |
14: 4,348,890 (GRCm38) |
Y17F |
probably benign |
Het |
Ablim2 |
A |
C |
5: 36,015,206 (GRCm39) |
T507P |
possibly damaging |
Het |
Arhgef28 |
T |
C |
13: 98,067,647 (GRCm39) |
Y1426C |
possibly damaging |
Het |
Cftr |
T |
A |
6: 18,258,237 (GRCm39) |
Y592* |
probably null |
Het |
Eogt |
C |
T |
6: 97,120,934 (GRCm39) |
G93D |
possibly damaging |
Het |
Exosc9 |
A |
G |
3: 36,607,180 (GRCm39) |
|
probably benign |
Het |
Frem1 |
T |
C |
4: 82,874,582 (GRCm39) |
I1329V |
probably benign |
Het |
Gal3st1 |
T |
C |
11: 3,948,110 (GRCm39) |
F106L |
possibly damaging |
Het |
Ints13 |
A |
T |
6: 146,455,721 (GRCm39) |
|
probably benign |
Het |
Kars1 |
G |
A |
8: 112,724,268 (GRCm39) |
T453I |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,417,999 (GRCm39) |
D844G |
probably damaging |
Het |
Lgals3bp |
A |
T |
11: 118,289,046 (GRCm39) |
C93S |
probably damaging |
Het |
Lst1 |
T |
C |
17: 35,405,958 (GRCm39) |
I32V |
probably benign |
Het |
Malsu1 |
T |
A |
6: 49,052,121 (GRCm39) |
Y114N |
probably damaging |
Het |
Ndufa5 |
A |
T |
6: 24,519,201 (GRCm39) |
V41E |
probably damaging |
Het |
Nme6 |
C |
A |
9: 109,670,999 (GRCm39) |
P80T |
probably damaging |
Het |
Odad2 |
T |
A |
18: 7,268,444 (GRCm39) |
R358S |
probably benign |
Het |
Or5ac20 |
A |
G |
16: 59,104,818 (GRCm39) |
L14P |
probably damaging |
Het |
Padi4 |
T |
C |
4: 140,473,532 (GRCm39) |
D635G |
probably damaging |
Het |
Pcf11 |
C |
T |
7: 92,311,049 (GRCm39) |
S313N |
possibly damaging |
Het |
Pdik1l |
T |
C |
4: 134,006,015 (GRCm39) |
H309R |
probably benign |
Het |
Pdk2 |
A |
T |
11: 94,930,323 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
A |
G |
19: 46,060,758 (GRCm39) |
S1606G |
possibly damaging |
Het |
Ptch1 |
A |
G |
13: 63,692,910 (GRCm39) |
I230T |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,447,914 (GRCm39) |
R1381Q |
probably benign |
Het |
Sestd1 |
T |
C |
2: 77,027,174 (GRCm39) |
K479E |
possibly damaging |
Het |
Sez6l2 |
C |
T |
7: 126,567,361 (GRCm39) |
S892L |
probably damaging |
Het |
Slc39a9 |
G |
T |
12: 80,713,350 (GRCm39) |
A83S |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,726,808 (GRCm39) |
Y483C |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tas2r131 |
A |
G |
6: 132,934,732 (GRCm39) |
S26P |
probably damaging |
Het |
Timd2 |
A |
G |
11: 46,569,063 (GRCm39) |
|
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,104,641 (GRCm39) |
E27G |
probably damaging |
Het |
Tns2 |
G |
A |
15: 102,022,978 (GRCm39) |
G1256E |
probably damaging |
Het |
Trpv6 |
T |
A |
6: 41,602,421 (GRCm39) |
I322F |
probably damaging |
Het |
Tshr |
G |
A |
12: 91,504,321 (GRCm39) |
V420M |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,596,431 (GRCm39) |
A20161S |
probably damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,654,455 (GRCm39) |
|
probably benign |
Het |
Zfp438 |
T |
A |
18: 5,213,216 (GRCm39) |
S581C |
probably damaging |
Het |
|
Other mutations in Gulp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01446:Gulp1
|
APN |
1 |
44,783,708 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |