Incidental Mutation 'R9186:Itgbl1'
| ID |
697402 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R9186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124094970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 332
(D332N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049681]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
| AlphaFold |
Q8VDV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049681
AA Change: D332N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: D332N
| 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: D208N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: D208N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,472 (GRCm39) |
R634L |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,767,383 (GRCm39) |
I210T |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arid3b |
A |
T |
9: 57,702,217 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,726,620 (GRCm39) |
N133D |
probably damaging |
Het |
| Bag6 |
C |
T |
17: 35,363,667 (GRCm39) |
R784W |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,426 (GRCm39) |
T42A |
unknown |
Het |
| Cd164 |
C |
A |
10: 41,404,695 (GRCm39) |
P151Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,213 (GRCm39) |
N218I |
probably damaging |
Het |
| Cfap97 |
C |
T |
8: 46,644,665 (GRCm39) |
R466C |
possibly damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,384,403 (GRCm39) |
T581K |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,798,563 (GRCm39) |
S34T |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,792 (GRCm39) |
K564I |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,470 (GRCm39) |
N1315S |
probably benign |
Het |
| Fubp1 |
A |
T |
3: 151,926,153 (GRCm39) |
M292L |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,378,200 (GRCm39) |
M139L |
possibly damaging |
Het |
| Gk5 |
T |
A |
9: 96,015,469 (GRCm39) |
V95D |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,826 (GRCm39) |
P148Q |
possibly damaging |
Het |
| Gm19410 |
A |
T |
8: 36,282,629 (GRCm39) |
S1952C |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,952,049 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,436,227 (GRCm39) |
L1211Q |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,876,457 (GRCm39) |
S1346P |
possibly damaging |
Het |
| Hexb |
A |
C |
13: 97,325,836 (GRCm39) |
V158G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,439 (GRCm39) |
E251G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,438,370 (GRCm39) |
Y89C |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,450,766 (GRCm39) |
V611D |
possibly damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,609 (GRCm39) |
R4L |
unknown |
Het |
| Lgi3 |
A |
G |
14: 70,772,193 (GRCm39) |
Y246C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,052,248 (GRCm39) |
I1002N |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,749,847 (GRCm39) |
T66M |
|
Het |
| Naip6 |
T |
C |
13: 100,436,390 (GRCm39) |
D711G |
possibly damaging |
Het |
| Or4f59 |
C |
A |
2: 111,873,095 (GRCm39) |
C94F |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,752,944 (GRCm39) |
Q48L |
probably benign |
Het |
| Oxct2a |
C |
A |
4: 123,216,461 (GRCm39) |
A307S |
probably damaging |
Het |
| Pgls |
T |
C |
8: 72,048,833 (GRCm39) |
*258Q |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,556,633 (GRCm39) |
N97K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,764,159 (GRCm39) |
V544A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,828,006 (GRCm39) |
G574S |
probably damaging |
Het |
| Scamp1 |
T |
A |
13: 94,344,682 (GRCm39) |
T272S |
possibly damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,737 (GRCm39) |
D562V |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,242,288 (GRCm39) |
F1565S |
probably damaging |
Het |
| Tatdn2 |
C |
T |
6: 113,687,125 (GRCm39) |
R779C |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,111,639 (GRCm39) |
I430V |
probably benign |
Het |
| Tmem86b |
T |
C |
7: 4,632,725 (GRCm39) |
D43G |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,488 (GRCm39) |
N447S |
|
Het |
| Trmt2a |
T |
C |
16: 18,069,033 (GRCm39) |
S292P |
probably benign |
Het |
| Trpc2 |
T |
C |
7: 101,737,492 (GRCm39) |
V428A |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,823,862 (GRCm39) |
E981G |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,017,272 (GRCm39) |
G21* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,490,318 (GRCm39) |
T21A |
probably benign |
Het |
| Vapa |
A |
T |
17: 65,900,507 (GRCm39) |
N88K |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,664,615 (GRCm39) |
R10G |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,391,810 (GRCm39) |
V4662F |
unknown |
Het |
| Zap70 |
G |
A |
1: 36,818,832 (GRCm39) |
M382I |
possibly damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
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 |
|
|
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 |
|
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'- TGCTGACTTACTTCTGACAGTC -3'
(R):5'- TCGAGGTATTTTCCCTGATCAG -3'
Sequencing Primer
(F):5'- GACTTACTTCTGACAGTCACTTTTAG -3'
(R):5'- AGGTATTTTCCCTGATCAGACTGTAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation