Incidental Mutation 'IGL01618:Itgbl1'
| ID |
92467 |
| 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 # |
IGL01618
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124065211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 122
(S122T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049681]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
| AlphaFold |
Q8VDV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049681
AA Change: S122T
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: S122T
| 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: S45T
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: S45T
| 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 |
possibly damaging
Transcript: ENSMUST00000142161
AA Change: S122T
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925
AA Change: S122T
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
C |
T |
19: 55,261,265 (GRCm39) |
A74V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
G |
A |
7: 66,058,978 (GRCm39) |
T239I |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,207,847 (GRCm39) |
|
probably null |
Het |
| Atp5me |
C |
A |
5: 108,581,899 (GRCm39) |
K28N |
probably damaging |
Het |
| C9 |
T |
G |
15: 6,489,149 (GRCm39) |
Y169D |
probably benign |
Het |
| Chat |
T |
A |
14: 32,168,849 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,874,479 (GRCm39) |
E706K |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,160,867 (GRCm39) |
K145E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,302 (GRCm39) |
M156T |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,101,756 (GRCm39) |
Y1275C |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,295,596 (GRCm39) |
F517Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,227,990 (GRCm39) |
W1536* |
probably null |
Het |
| Galc |
T |
C |
12: 98,218,340 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gsap |
T |
C |
5: 21,431,246 (GRCm39) |
I190T |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,922,630 (GRCm39) |
R388* |
probably null |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Jhy |
G |
T |
9: 40,872,260 (GRCm39) |
T83K |
possibly damaging |
Het |
| Kcne4 |
A |
T |
1: 78,795,525 (GRCm39) |
M58L |
possibly damaging |
Het |
| Lamc3 |
T |
A |
2: 31,802,119 (GRCm39) |
I509N |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,506 (GRCm39) |
S156P |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,048,840 (GRCm39) |
|
probably benign |
Het |
| Marchf11 |
T |
C |
15: 26,409,285 (GRCm39) |
I328T |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,577,001 (GRCm39) |
Q2167L |
unknown |
Het |
| Myom1 |
T |
C |
17: 71,406,988 (GRCm39) |
V1135A |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,702,555 (GRCm39) |
R101* |
probably null |
Het |
| Nxpe4 |
T |
C |
9: 48,305,440 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,798,303 (GRCm39) |
N5S |
probably damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,637 (GRCm39) |
V215E |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,582 (GRCm39) |
V281I |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,614 (GRCm39) |
K136N |
probably benign |
Het |
| Or5w19 |
A |
C |
2: 87,698,488 (GRCm39) |
D51A |
probably damaging |
Het |
| Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
| Prepl |
A |
G |
17: 85,373,709 (GRCm39) |
V586A |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,368,529 (GRCm39) |
Y2098C |
probably damaging |
Het |
| Rdh16 |
G |
A |
10: 127,637,176 (GRCm39) |
C37Y |
probably damaging |
Het |
| Rnd1 |
A |
T |
15: 98,571,746 (GRCm39) |
M100K |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,877,504 (GRCm39) |
N204D |
probably damaging |
Het |
| Susd4 |
A |
G |
1: 182,686,026 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
T |
10: 23,926,239 (GRCm39) |
A278S |
possibly damaging |
Het |
| Tle4 |
T |
A |
19: 14,522,178 (GRCm39) |
M122L |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,125 (GRCm39) |
V662I |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,345 (GRCm39) |
C233F |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,521 (GRCm39) |
T114P |
possibly damaging |
Het |
| Zfyve21 |
C |
T |
12: 111,794,247 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
T |
C |
19: 24,918,140 (GRCm39) |
E210G |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation