Incidental Mutation 'IGL02024:Itgbl1'
ID |
184095 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itgbl1
|
Ensembl Gene |
ENSMUSG00000032925 |
Gene Name |
integrin, beta-like 1 |
Synonyms |
with EGF-like repeat domains, B930011D01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL02024
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 124094904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 186
(C186S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049681]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
AlphaFold |
Q8VDV0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049681
AA Change: C310S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059019 Gene: ENSMUSG00000032925 AA Change: C310S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
internal_repeat_1
|
62 |
164 |
7.9e-12 |
PROSPERO |
EGF_like
|
184 |
217 |
6.95e1 |
SMART |
EGF
|
275 |
311 |
2.25e1 |
SMART |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
Pfam:EGF_2
|
368 |
398 |
3.6e-8 |
PFAM |
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
low complexity region
|
448 |
456 |
N/A |
INTRINSIC |
Blast:EGF_like
|
457 |
486 |
4e-9 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132026
AA Change: C186S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115455 Gene: ENSMUSG00000032925 AA Change: C186S
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
22 |
50 |
3.54e-8 |
PROSPERO |
internal_repeat_1
|
23 |
87 |
7.45e-14 |
PROSPERO |
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
EGF
|
151 |
187 |
2.25e1 |
SMART |
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
Pfam:EGF_2
|
239 |
274 |
1.5e-7 |
PFAM |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
low complexity region
|
324 |
332 |
N/A |
INTRINSIC |
internal_repeat_2
|
334 |
362 |
3.54e-8 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142161
|
SMART Domains |
Protein: ENSMUSP00000121659 Gene: ENSMUSG00000032925
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
PDB:4G1E|B
|
59 |
171 |
1e-17 |
PDB |
Blast:EGF_like
|
90 |
127 |
5e-15 |
BLAST |
low complexity region
|
178 |
192 |
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.] This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
Het |
|
Other mutations in Itgbl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Itgbl1
|
APN |
14 |
124,083,844 (GRCm39) |
splice site |
probably benign |
|
IGL01290:Itgbl1
|
APN |
14 |
124,204,137 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01618:Itgbl1
|
APN |
14 |
124,065,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02192:Itgbl1
|
APN |
14 |
124,081,338 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02215:Itgbl1
|
APN |
14 |
124,209,553 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02400:Itgbl1
|
APN |
14 |
124,083,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02483:Itgbl1
|
APN |
14 |
124,065,155 (GRCm39) |
splice site |
probably benign |
|
BB002:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
BB012:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
H8441:Itgbl1
|
UTSW |
14 |
124,210,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R0137:Itgbl1
|
UTSW |
14 |
124,078,098 (GRCm39) |
critical splice donor site |
probably null |
|
R0193:Itgbl1
|
UTSW |
14 |
124,083,958 (GRCm39) |
missense |
probably benign |
0.09 |
R0355:Itgbl1
|
UTSW |
14 |
124,077,997 (GRCm39) |
nonsense |
probably null |
|
R0598:Itgbl1
|
UTSW |
14 |
124,094,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0662:Itgbl1
|
UTSW |
14 |
124,065,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0689:Itgbl1
|
UTSW |
14 |
124,065,259 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1385:Itgbl1
|
UTSW |
14 |
123,898,923 (GRCm39) |
splice site |
probably null |
|
R1957:Itgbl1
|
UTSW |
14 |
124,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R3739:Itgbl1
|
UTSW |
14 |
124,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R3842:Itgbl1
|
UTSW |
14 |
124,077,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4434:Itgbl1
|
UTSW |
14 |
124,209,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Itgbl1
|
UTSW |
14 |
124,078,080 (GRCm39) |
missense |
probably damaging |
0.97 |
R4696:Itgbl1
|
UTSW |
14 |
124,204,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Itgbl1
|
UTSW |
14 |
124,210,780 (GRCm39) |
missense |
probably benign |
0.12 |
R5087:Itgbl1
|
UTSW |
14 |
124,204,151 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5747:Itgbl1
|
UTSW |
14 |
124,209,576 (GRCm39) |
nonsense |
probably null |
|
R6020:Itgbl1
|
UTSW |
14 |
124,083,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R6169:Itgbl1
|
UTSW |
14 |
123,897,790 (GRCm39) |
missense |
probably benign |
0.17 |
R6758:Itgbl1
|
UTSW |
14 |
124,094,901 (GRCm39) |
missense |
probably benign |
0.23 |
R7213:Itgbl1
|
UTSW |
14 |
124,210,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:Itgbl1
|
UTSW |
14 |
124,081,316 (GRCm39) |
missense |
probably damaging |
0.96 |
R7378:Itgbl1
|
UTSW |
14 |
124,094,901 (GRCm39) |
missense |
probably benign |
0.23 |
R7461:Itgbl1
|
UTSW |
14 |
124,065,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7664:Itgbl1
|
UTSW |
14 |
124,083,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R7841:Itgbl1
|
UTSW |
14 |
124,209,645 (GRCm39) |
critical splice donor site |
probably null |
|
R7925:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8115:Itgbl1
|
UTSW |
14 |
124,094,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Itgbl1
|
UTSW |
14 |
124,065,246 (GRCm39) |
missense |
probably benign |
0.00 |
R8778:Itgbl1
|
UTSW |
14 |
124,078,075 (GRCm39) |
missense |
probably benign |
0.01 |
R8978:Itgbl1
|
UTSW |
14 |
124,209,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Itgbl1
|
UTSW |
14 |
124,094,970 (GRCm39) |
missense |
probably benign |
|
V1024:Itgbl1
|
UTSW |
14 |
124,210,699 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:Itgbl1
|
UTSW |
14 |
123,898,717 (GRCm39) |
missense |
probably benign |
0.01 |
X0017:Itgbl1
|
UTSW |
14 |
124,209,623 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Itgbl1
|
UTSW |
14 |
124,192,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2014-05-07 |