Incidental Mutation 'IGL02215:Itgbl1'
| ID |
284820 |
| 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 # |
IGL02215
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 124209553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 311
(I311L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049681]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
| AlphaFold |
Q8VDV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049681
AA Change: I435L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: I435L
| 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 benign
Transcript: ENSMUST00000132026
AA Change: I311L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: I311L
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
| Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
| Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,366,031 (GRCm39) |
N628D |
possibly damaging |
Het |
| Astn2 |
T |
A |
4: 66,184,471 (GRCm39) |
I209F |
unknown |
Het |
| Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
| C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
| Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
| Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
| Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
| Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
| H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
| Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
| Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
| Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
| Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,628,822 (GRCm39) |
D731E |
possibly damaging |
Het |
| Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
| Smg5 |
T |
C |
3: 88,260,305 (GRCm39) |
S632P |
possibly damaging |
Het |
| Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,929,478 (GRCm39) |
I1132F |
probably damaging |
Het |
| Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
| Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
| Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
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 |
|
IGL02024:Itgbl1
|
APN |
14 |
124,094,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Itgbl1
|
APN |
14 |
124,081,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation