Incidental Mutation 'IGL01396:Itga9'
| ID |
79473 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itga9
|
| Ensembl Gene |
ENSMUSG00000039115 |
| Gene Name |
integrin alpha 9 |
| Synonyms |
D9Ertd428e, 6720458D17Rik, 2610002H11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
118435777-118730071 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 118436191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044165]
|
| AlphaFold |
B8JK39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044165
|
| SMART Domains |
Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
| Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
| Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
| Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
| Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac4 |
T |
C |
1: 91,887,196 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
| Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
| Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
| Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
| Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
| Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
| Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
| Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
| Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
| Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
probably benign |
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 |
|
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 |
|
R4929:Itga9
|
UTSW |
9 |
118,636,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation