Incidental Mutation 'R4307:Itgb5'
| ID |
324074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb5
|
| Ensembl Gene |
ENSMUSG00000022817 |
| Gene Name |
integrin beta 5 |
| Synonyms |
ESTM23, [b]-5, beta-5, beta5, [b]5, [b]5A, [b]5B |
| MMRRC Submission |
041658-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4307 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33829665-33949338 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33948732 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 481
(Y481D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069345]
[ENSMUST00000115028]
[ENSMUST00000232262]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069345
AA Change: L784R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: L784R
| Domain | Start | End | E-Value | Type |
|---|
|
PSI
|
27 |
76 |
1.4e-7 |
SMART |
|
INB
|
35 |
463 |
1.18e-284 |
SMART |
|
VWA
|
137 |
372 |
5.95e-7 |
SMART |
|
internal_repeat_1
|
492 |
549 |
3.16e-7 |
PROSPERO |
|
EGF
|
554 |
586 |
1.95e1 |
SMART |
|
Integrin_B_tail
|
635 |
719 |
1.56e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115028
AA Change: Y794D
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: Y794D
| Domain | Start | End | E-Value | Type |
|---|
|
PSI
|
27 |
76 |
1.4e-7 |
SMART |
|
INB
|
35 |
463 |
1.18e-284 |
SMART |
|
VWA
|
137 |
372 |
5.95e-7 |
SMART |
|
internal_repeat_1
|
492 |
549 |
3.16e-7 |
PROSPERO |
|
EGF
|
554 |
586 |
1.95e1 |
SMART |
|
Integrin_B_tail
|
635 |
719 |
1.56e-21 |
SMART |
|
Integrin_b_cyt
|
743 |
790 |
5.97e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231409
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232262
AA Change: Y481D
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1506 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
A |
C |
10: 83,737,928 |
K22N |
probably damaging |
Het |
| A830018L16Rik |
C |
A |
1: 11,972,076 |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,229,481 |
I426T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 124,125,074 |
L238P |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,779,042 |
R350W |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,481,621 |
Y430N |
possibly damaging |
Het |
| Egf |
T |
A |
3: 129,719,095 |
Y473F |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,908,317 |
E504G |
probably damaging |
Het |
| Frmd4a |
C |
T |
2: 4,333,078 |
R32C |
probably benign |
Het |
| Fuk |
G |
A |
8: 110,892,080 |
Q349* |
probably null |
Het |
| Gm20939 |
A |
T |
17: 94,876,734 |
Y270F |
possibly damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,448,983 |
*68W |
probably null |
Het |
| Gpm6a |
T |
C |
8: 55,047,393 |
|
probably null |
Het |
| Inpp5a |
T |
C |
7: 139,574,963 |
S333P |
possibly damaging |
Het |
| Kif27 |
C |
T |
13: 58,344,123 |
V401I |
probably benign |
Het |
| Lca5l |
C |
T |
16: 96,159,556 |
|
probably benign |
Het |
| Mkl1 |
G |
A |
15: 81,016,347 |
L648F |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,163,509 |
V1648A |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,496,666 |
E290K |
possibly damaging |
Het |
| Prr27 |
A |
G |
5: 87,842,907 |
H126R |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,675,755 |
S1597T |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 123,269,870 |
H560Q |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,889,617 |
|
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,693,367 |
N1365S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,590,161 |
V403E |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,086,006 |
L780P |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,490,708 |
F80I |
probably damaging |
Het |
|
| Other mutations in Itgb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Itgb5
|
APN |
16 |
33884975 |
missense |
probably damaging |
1.00 |
|
IGL01121:Itgb5
|
APN |
16 |
33919989 |
missense |
probably benign |
0.00 |
|
IGL01620:Itgb5
|
APN |
16 |
33919798 |
missense |
probably damaging |
1.00 |
|
IGL02332:Itgb5
|
APN |
16 |
33920130 |
nonsense |
probably null |
|
|
IGL02869:Itgb5
|
APN |
16 |
33844992 |
missense |
possibly damaging |
0.94 |
|
IGL02881:Itgb5
|
APN |
16 |
33919905 |
missense |
probably benign |
0.00 |
|
IGL02941:Itgb5
|
APN |
16 |
33944095 |
splice site |
probably benign |
|
|
IGL03216:Itgb5
|
APN |
16 |
33902838 |
missense |
probably benign |
0.38 |
|
IGL03351:Itgb5
|
APN |
16 |
33910552 |
missense |
probably benign |
0.00 |
|
PIT4812001:Itgb5
|
UTSW |
16 |
33919987 |
missense |
probably damaging |
1.00 |
|
R0744:Itgb5
|
UTSW |
16 |
33900583 |
missense |
probably damaging |
0.99 |
|
R0829:Itgb5
|
UTSW |
16 |
33944201 |
missense |
probably benign |
0.29 |
|
R0836:Itgb5
|
UTSW |
16 |
33900583 |
missense |
probably damaging |
0.99 |
|
R1387:Itgb5
|
UTSW |
16 |
33900515 |
nonsense |
probably null |
|
|
R1703:Itgb5
|
UTSW |
16 |
33910500 |
missense |
probably benign |
0.01 |
|
R1783:Itgb5
|
UTSW |
16 |
33940562 |
missense |
probably benign |
0.13 |
|
R1826:Itgb5
|
UTSW |
16 |
33865560 |
missense |
possibly damaging |
0.48 |
|
R1889:Itgb5
|
UTSW |
16 |
33910469 |
missense |
probably damaging |
1.00 |
|
R2374:Itgb5
|
UTSW |
16 |
33919798 |
missense |
probably damaging |
1.00 |
|
R4355:Itgb5
|
UTSW |
16 |
33844997 |
missense |
probably damaging |
0.98 |
|
R4796:Itgb5
|
UTSW |
16 |
33885021 |
missense |
possibly damaging |
0.83 |
|
R4879:Itgb5
|
UTSW |
16 |
33875978 |
missense |
probably damaging |
1.00 |
|
R6165:Itgb5
|
UTSW |
16 |
33899242 |
missense |
probably benign |
0.01 |
|
R6584:Itgb5
|
UTSW |
16 |
33885030 |
missense |
probably damaging |
1.00 |
|
R6617:Itgb5
|
UTSW |
16 |
33946592 |
missense |
probably benign |
0.01 |
|
R6748:Itgb5
|
UTSW |
16 |
33899297 |
missense |
probably damaging |
1.00 |
|
R6979:Itgb5
|
UTSW |
16 |
33919986 |
missense |
probably damaging |
1.00 |
|
R7090:Itgb5
|
UTSW |
16 |
33885094 |
missense |
probably damaging |
1.00 |
|
R7150:Itgb5
|
UTSW |
16 |
33940643 |
missense |
probably benign |
0.03 |
|
R7403:Itgb5
|
UTSW |
16 |
33902793 |
critical splice acceptor site |
probably null |
|
|
R7418:Itgb5
|
UTSW |
16 |
33885094 |
missense |
probably damaging |
1.00 |
|
R7719:Itgb5
|
UTSW |
16 |
33920116 |
missense |
probably benign |
0.01 |
|
R8309:Itgb5
|
UTSW |
16 |
33865553 |
missense |
probably benign |
0.00 |
|
R8347:Itgb5
|
UTSW |
16 |
33940678 |
missense |
probably damaging |
1.00 |
|
R8856:Itgb5
|
UTSW |
16 |
33900592 |
missense |
probably damaging |
1.00 |
|
R9100:Itgb5
|
UTSW |
16 |
33920181 |
missense |
possibly damaging |
0.91 |
|
R9194:Itgb5
|
UTSW |
16 |
33900511 |
missense |
probably damaging |
1.00 |
|
R9309:Itgb5
|
UTSW |
16 |
33920046 |
missense |
probably benign |
0.00 |
|
R9343:Itgb5
|
UTSW |
16 |
33910456 |
splice site |
probably benign |
|
|
R9629:Itgb5
|
UTSW |
16 |
33875925 |
missense |
probably damaging |
1.00 |
|
R9683:Itgb5
|
UTSW |
16 |
33919965 |
missense |
probably damaging |
0.97 |
|
R9710:Itgb5
|
UTSW |
16 |
33865547 |
missense |
probably benign |
0.00 |
|
X0022:Itgb5
|
UTSW |
16 |
33845050 |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGAGTCTGTCTGTTCAGGTTCC -3'
(R):5'- GAACACCAGAGTCTCCTTGC -3'
Sequencing Primer
(F):5'- TCAGGTTCCAGGGGACTTC -3'
(R):5'- AAGTGGCCCCAAGTGCCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation