Incidental Mutation 'BB012:Itgbl1'
| ID |
642736 |
| Institutional Source |
Beutler Lab
|
| 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 # |
BB012
|
| 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 124210735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 478
(D478N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026631]
[ENSMUST00000049681]
[ENSMUST00000095529]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
| AlphaFold |
Q8VDV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026631
|
| SMART Domains |
Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
FGF
|
69 |
200 |
1.75e-63 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049681
AA Change: D478N
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: D478N
| 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: ENSMUST00000095529
|
| SMART Domains |
Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
74 |
205 |
1.75e-63 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132026
AA Change: D354N
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: D354N
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
| 4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
| A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
| Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
| Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,562,723 (GRCm39) |
H228Q |
probably benign |
Het |
| Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
| Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
| Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
| Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
| Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
| Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
| Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
| Lrrc66 |
A |
T |
5: 73,765,835 (GRCm39) |
C403S |
possibly damaging |
Het |
| Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
| Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
| Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
| Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
| Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
| Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
| Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
| Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
| Pgls |
T |
C |
8: 72,044,996 (GRCm39) |
S46P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
| Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
| Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
| Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,403,056 (GRCm39) |
I124V |
probably damaging |
Het |
| Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
| Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
| Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
| Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
| Ube3c |
T |
A |
5: 29,851,429 (GRCm39) |
I752N |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,990 (GRCm39) |
M962V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGTGATGAAAGGTAGGTACTGTTC -3'
(R):5'- CCAGTTGGGCAGTCAGAAATAG -3'
Sequencing Primer
(F):5'- GGGAGGATAAATGGTTTCCT -3'
(R):5'- GAGAAACACACAAAAGTCTGTCCTAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation