Incidental Mutation 'R4929:Itga9'
| ID |
381094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga9
|
| Ensembl Gene |
ENSMUSG00000039115 |
| Gene Name |
integrin alpha 9 |
| Synonyms |
D9Ertd428e, 6720458D17Rik, 2610002H11Rik |
| MMRRC Submission |
042530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118435777-118730071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118636317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 82
(D82E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044165]
[ENSMUST00000124360]
|
| AlphaFold |
B8JK39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044165
AA Change: D668E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
AA Change: D668E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Int_alpha
|
45 |
105 |
8.95e-7 |
SMART |
|
low complexity region
|
181 |
191 |
N/A |
INTRINSIC |
|
Int_alpha
|
244 |
297 |
2.12e-8 |
SMART |
|
Int_alpha
|
301 |
356 |
1.68e-11 |
SMART |
|
Int_alpha
|
361 |
416 |
2.9e-15 |
SMART |
|
Int_alpha
|
423 |
476 |
1.11e-2 |
SMART |
|
SCOP:d1m1xa2
|
626 |
766 |
3e-32 |
SMART |
|
SCOP:d1m1xa3
|
769 |
970 |
1e-39 |
SMART |
|
transmembrane domain
|
981 |
1003 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124360
AA Change: D82E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122417
Gene: ENSMUSG00000039115
AA Change: D82E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_alpha2
|
1 |
357 |
2.1e-61 |
PFAM |
|
transmembrane domain
|
395 |
417 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149150
|
| SMART Domains |
Protein: ENSMUSP00000122408
Gene: ENSMUSG00000039115
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_alpha2
|
1 |
144 |
7.8e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
| Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
| Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
| Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
| Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
| Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
| Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
| Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
| Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
| Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
| Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
| Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
| Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
| Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
| Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
| Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
| Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
| Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
| Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
| Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
possibly damaging |
Het |
|
| Other mutations in Itga9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Itga9
|
APN |
9 |
118,598,227 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
IGL01396:Itga9
|
APN |
9 |
118,436,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL01476:Itga9
|
APN |
9 |
118,436,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01573:Itga9
|
APN |
9 |
118,706,298 (GRCm39) |
splice site |
probably benign |
|
|
IGL01958:Itga9
|
APN |
9 |
118,465,562 (GRCm39) |
splice site |
probably benign |
|
|
IGL02060:Itga9
|
APN |
9 |
118,490,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Itga9
|
APN |
9 |
118,663,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02391:Itga9
|
APN |
9 |
118,679,873 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02947:Itga9
|
APN |
9 |
118,487,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Itga9
|
UTSW |
9 |
118,457,212 (GRCm39) |
missense |
probably benign |
|
|
R0052:Itga9
|
UTSW |
9 |
118,465,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Itga9
|
UTSW |
9 |
118,465,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Itga9
|
UTSW |
9 |
118,465,654 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0179:Itga9
|
UTSW |
9 |
118,490,454 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0207:Itga9
|
UTSW |
9 |
118,598,321 (GRCm39) |
splice site |
probably benign |
|
|
R0364:Itga9
|
UTSW |
9 |
118,670,210 (GRCm39) |
missense |
probably benign |
|
|
R0458:Itga9
|
UTSW |
9 |
118,510,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1486:Itga9
|
UTSW |
9 |
118,455,518 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1589:Itga9
|
UTSW |
9 |
118,436,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1620:Itga9
|
UTSW |
9 |
118,672,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1711:Itga9
|
UTSW |
9 |
118,527,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1721:Itga9
|
UTSW |
9 |
118,527,374 (GRCm39) |
splice site |
probably benign |
|
|
R2064:Itga9
|
UTSW |
9 |
118,636,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2201:Itga9
|
UTSW |
9 |
118,706,183 (GRCm39) |
splice site |
probably benign |
|
|
R2851:Itga9
|
UTSW |
9 |
118,465,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2853:Itga9
|
UTSW |
9 |
118,465,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3962:Itga9
|
UTSW |
9 |
118,457,254 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4180:Itga9
|
UTSW |
9 |
118,436,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Itga9
|
UTSW |
9 |
118,672,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Itga9
|
UTSW |
9 |
118,510,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5002:Itga9
|
UTSW |
9 |
118,492,966 (GRCm39) |
nonsense |
probably null |
|
|
R5279:Itga9
|
UTSW |
9 |
118,457,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Itga9
|
UTSW |
9 |
118,672,729 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5869:Itga9
|
UTSW |
9 |
118,492,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Itga9
|
UTSW |
9 |
118,726,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Itga9
|
UTSW |
9 |
118,726,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6581:Itga9
|
UTSW |
9 |
118,487,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6919:Itga9
|
UTSW |
9 |
118,716,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Itga9
|
UTSW |
9 |
118,527,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7036:Itga9
|
UTSW |
9 |
118,527,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7043:Itga9
|
UTSW |
9 |
118,598,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7237:Itga9
|
UTSW |
9 |
118,465,670 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7491:Itga9
|
UTSW |
9 |
118,598,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7629:Itga9
|
UTSW |
9 |
118,527,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7774:Itga9
|
UTSW |
9 |
118,700,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Itga9
|
UTSW |
9 |
118,672,712 (GRCm39) |
missense |
|
|
|
R7789:Itga9
|
UTSW |
9 |
118,487,564 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7904:Itga9
|
UTSW |
9 |
118,706,294 (GRCm39) |
splice site |
probably null |
|
|
R8086:Itga9
|
UTSW |
9 |
118,679,869 (GRCm39) |
missense |
probably benign |
|
|
R8158:Itga9
|
UTSW |
9 |
118,706,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8204:Itga9
|
UTSW |
9 |
118,700,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Itga9
|
UTSW |
9 |
118,510,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Itga9
|
UTSW |
9 |
118,636,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9090:Itga9
|
UTSW |
9 |
118,500,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9271:Itga9
|
UTSW |
9 |
118,500,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9318:Itga9
|
UTSW |
9 |
118,455,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9434:Itga9
|
UTSW |
9 |
118,636,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Itga9
|
UTSW |
9 |
118,716,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Itga9
|
UTSW |
9 |
118,672,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATGGGGCTCCTGAGTG -3'
(R):5'- GGCCAGGATGAAAGCCAATC -3'
Sequencing Primer
(F):5'- AGTGTCACAGCTGTGCTC -3'
(R):5'- GCCAGGATGAAAGCCAATCTCTAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation