Incidental Mutation 'R0598:Itgbl1'
| ID |
55181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgbl1
|
| Ensembl Gene |
ENSMUSG00000032925 |
| Gene Name |
integrin, beta-like 1 |
| Synonyms |
with EGF-like repeat domains, B930011D01Rik |
| MMRRC Submission |
038787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0598 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124094848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 167
(H167R)
|
| 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: H291R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: H291R
| 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 |
possibly damaging
Transcript: ENSMUST00000132026
AA Change: H167R
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: H167R
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Cpt2 |
G |
T |
4: 107,764,135 (GRCm39) |
T543N |
probably damaging |
Het |
| Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,140,822 (GRCm39) |
V40A |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
| Lrp8 |
A |
C |
4: 107,714,434 (GRCm39) |
I603L |
possibly damaging |
Het |
| Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
| Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,230 (GRCm39) |
D309G |
probably benign |
Het |
| Padi1 |
C |
A |
4: 140,542,098 (GRCm39) |
R608L |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
| Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
| St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
| Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
| Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
| Vsnl1 |
T |
C |
12: 11,436,860 (GRCm39) |
S40G |
probably benign |
Het |
| Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGGATATGGGGAAGTCTCTCTAC -3'
(R):5'- TCTTTCTGAGACCTCAGGCACCAG -3'
Sequencing Primer
(F):5'- AATCCATCAAATACTCCACTTACTTC -3'
(R):5'- GGATGGGGGACATTTGATACATAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation