Incidental Mutation 'R5591:Itga6'
| ID |
437506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga6
|
| Ensembl Gene |
ENSMUSG00000027111 |
| Gene Name |
integrin alpha 6 |
| Synonyms |
5033401O05Rik, Cd49f |
| MMRRC Submission |
043269-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71617236-71688761 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71670934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 221
(D221G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028522]
[ENSMUST00000112101]
|
| AlphaFold |
Q61739 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028522
AA Change: D628G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: D628G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Int_alpha
|
40 |
101 |
3.12e-6 |
SMART |
|
Int_alpha
|
254 |
303 |
2.7e-1 |
SMART |
|
Int_alpha
|
312 |
368 |
1.46e-11 |
SMART |
|
Int_alpha
|
373 |
426 |
9.73e-17 |
SMART |
|
Int_alpha
|
428 |
483 |
5.83e0 |
SMART |
|
SCOP:d1m1xa2
|
629 |
786 |
5e-32 |
SMART |
|
SCOP:d1m1xa3
|
797 |
1017 |
3e-55 |
SMART |
|
Pfam:Integrin_alpha
|
1038 |
1052 |
3.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112101
AA Change: D628G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: D628G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Int_alpha
|
40 |
101 |
3.12e-6 |
SMART |
|
Int_alpha
|
254 |
303 |
2.7e-1 |
SMART |
|
Int_alpha
|
312 |
368 |
1.46e-11 |
SMART |
|
Int_alpha
|
373 |
426 |
9.73e-17 |
SMART |
|
Int_alpha
|
428 |
483 |
5.83e0 |
SMART |
|
SCOP:d1m1xa2
|
629 |
786 |
4e-32 |
SMART |
|
SCOP:d1m1xa3
|
797 |
1017 |
4e-55 |
SMART |
|
low complexity region
|
1058 |
1070 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155249
AA Change: D221G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118086
Gene: ENSMUSG00000027111
AA Change: D221G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_alpha2
|
58 |
533 |
4.7e-131 |
PFAM |
|
transmembrane domain
|
609 |
631 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
632 |
646 |
6.2e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155596
|
| Meta Mutation Damage Score |
0.1725 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 4 to bind laminin and to form the main component of hemidesmosomes, which mediate attachment of epithelia to basement membranes. In mouse, deficiency of this gene is associated with absence of hemidesmosomes, severe skin blistering, and early post-natal death. In humans mutations of this gene are associated with epidermolysis bullosa. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
C |
7: 44,794,076 (GRCm39) |
E13G |
probably null |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,661,263 (GRCm39) |
M276K |
probably benign |
Het |
| Casp14 |
A |
T |
10: 78,550,179 (GRCm39) |
D156E |
unknown |
Het |
| Ccdc82 |
T |
A |
9: 13,272,822 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,521 (GRCm39) |
N436S |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 96,029,359 (GRCm39) |
|
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,662 (GRCm39) |
S226P |
probably damaging |
Het |
| Gm3676 |
T |
C |
14: 41,365,181 (GRCm39) |
Y158C |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,476,844 (GRCm39) |
I285K |
probably benign |
Het |
| Gpr179 |
C |
T |
11: 97,236,581 (GRCm39) |
V417I |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,882,051 (GRCm39) |
M247I |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,234,059 (GRCm39) |
L275F |
probably damaging |
Het |
| Ifi27l2b |
A |
G |
12: 103,417,566 (GRCm39) |
V207A |
probably damaging |
Het |
| Isg20l2 |
C |
T |
3: 87,837,731 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,979,929 (GRCm39) |
Y67C |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,018 (GRCm39) |
C249S |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,184,060 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mbd5 |
A |
C |
2: 49,164,681 (GRCm39) |
Q958H |
probably damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrm3 |
G |
A |
11: 76,140,907 (GRCm39) |
R305H |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,063,890 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,658 (GRCm39) |
I127K |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,244 (GRCm39) |
I304F |
probably benign |
Het |
| Or2aj5 |
T |
A |
16: 19,424,608 (GRCm39) |
Q270L |
probably damaging |
Het |
| Or2ak7 |
A |
G |
11: 58,574,951 (GRCm39) |
N84S |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,489 (GRCm39) |
M59K |
probably damaging |
Het |
| Or4c126 |
A |
G |
2: 89,823,751 (GRCm39) |
T5A |
possibly damaging |
Het |
| Or51q1 |
G |
T |
7: 103,629,320 (GRCm39) |
R307L |
probably benign |
Het |
| P3h3 |
C |
T |
6: 124,831,658 (GRCm39) |
|
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,157,159 (GRCm39) |
S276G |
probably benign |
Het |
| Plekhg3 |
C |
T |
12: 76,607,066 (GRCm39) |
S42L |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,832,247 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,377 (GRCm39) |
Y483C |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,691,530 (GRCm39) |
L398I |
probably damaging |
Het |
| Raph1 |
G |
A |
1: 60,540,905 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
G |
A |
13: 47,396,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,609,900 (GRCm39) |
S4309P |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,601,482 (GRCm39) |
S1158T |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,898,048 (GRCm39) |
V94A |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,525,317 (GRCm39) |
D42G |
possibly damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,630,412 (GRCm39) |
K155N |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,800,545 (GRCm39) |
Y428C |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,583,922 (GRCm39) |
N1655S |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,787,964 (GRCm39) |
E1160G |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,254 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,540,012 (GRCm39) |
M25998L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,379,963 (GRCm39) |
|
probably benign |
Het |
| Vamp4 |
A |
G |
1: 162,415,811 (GRCm39) |
I71V |
possibly damaging |
Het |
| Washc5 |
C |
A |
15: 59,241,012 (GRCm39) |
D108Y |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,829,087 (GRCm39) |
H1043L |
probably benign |
Het |
| Zcchc14 |
C |
T |
8: 122,332,187 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,579,262 (GRCm39) |
F617S |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,342 (GRCm39) |
N77I |
probably benign |
Het |
|
| Other mutations in Itga6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Itga6
|
APN |
2 |
71,668,606 (GRCm39) |
splice site |
probably null |
|
|
IGL00902:Itga6
|
APN |
2 |
71,679,738 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01360:Itga6
|
APN |
2 |
71,617,670 (GRCm39) |
splice site |
probably null |
|
|
IGL01621:Itga6
|
APN |
2 |
71,656,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01877:Itga6
|
APN |
2 |
71,668,624 (GRCm39) |
missense |
probably benign |
|
|
IGL02332:Itga6
|
APN |
2 |
71,668,717 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02556:Itga6
|
APN |
2 |
71,669,027 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02713:Itga6
|
APN |
2 |
71,647,057 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02811:Itga6
|
APN |
2 |
71,657,076 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03171:Itga6
|
APN |
2 |
71,671,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
isle_royale
|
UTSW |
2 |
71,617,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4418001:Itga6
|
UTSW |
2 |
71,664,414 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0070:Itga6
|
UTSW |
2 |
71,657,060 (GRCm39) |
unclassified |
probably benign |
|
|
R0611:Itga6
|
UTSW |
2 |
71,650,404 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1404:Itga6
|
UTSW |
2 |
71,669,060 (GRCm39) |
missense |
probably benign |
|
|
R1404:Itga6
|
UTSW |
2 |
71,669,060 (GRCm39) |
missense |
probably benign |
|
|
R1439:Itga6
|
UTSW |
2 |
71,664,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Itga6
|
UTSW |
2 |
71,673,584 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1713:Itga6
|
UTSW |
2 |
71,617,546 (GRCm39) |
missense |
probably benign |
|
|
R1720:Itga6
|
UTSW |
2 |
71,650,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Itga6
|
UTSW |
2 |
71,671,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Itga6
|
UTSW |
2 |
71,664,414 (GRCm39) |
missense |
probably benign |
|
|
R2009:Itga6
|
UTSW |
2 |
71,647,025 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2018:Itga6
|
UTSW |
2 |
71,648,828 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2171:Itga6
|
UTSW |
2 |
71,650,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Itga6
|
UTSW |
2 |
71,655,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2289:Itga6
|
UTSW |
2 |
71,648,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2399:Itga6
|
UTSW |
2 |
71,650,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4437:Itga6
|
UTSW |
2 |
71,655,982 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4482:Itga6
|
UTSW |
2 |
71,686,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Itga6
|
UTSW |
2 |
71,652,788 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4786:Itga6
|
UTSW |
2 |
71,669,034 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4898:Itga6
|
UTSW |
2 |
71,668,717 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5074:Itga6
|
UTSW |
2 |
71,656,779 (GRCm39) |
missense |
probably benign |
|
|
R5386:Itga6
|
UTSW |
2 |
71,671,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Itga6
|
UTSW |
2 |
71,617,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6174:Itga6
|
UTSW |
2 |
71,664,053 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6210:Itga6
|
UTSW |
2 |
71,664,351 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6432:Itga6
|
UTSW |
2 |
71,664,116 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6644:Itga6
|
UTSW |
2 |
71,671,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Itga6
|
UTSW |
2 |
71,650,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Itga6
|
UTSW |
2 |
71,683,897 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7479:Itga6
|
UTSW |
2 |
71,668,680 (GRCm39) |
nonsense |
probably null |
|
|
R7635:Itga6
|
UTSW |
2 |
71,673,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Itga6
|
UTSW |
2 |
71,676,595 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7737:Itga6
|
UTSW |
2 |
71,652,787 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7782:Itga6
|
UTSW |
2 |
71,671,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8062:Itga6
|
UTSW |
2 |
71,672,087 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8312:Itga6
|
UTSW |
2 |
71,686,297 (GRCm39) |
missense |
probably benign |
|
|
R8698:Itga6
|
UTSW |
2 |
71,673,618 (GRCm39) |
missense |
probably benign |
|
|
R9080:Itga6
|
UTSW |
2 |
71,673,633 (GRCm39) |
missense |
probably benign |
|
|
R9169:Itga6
|
UTSW |
2 |
71,647,015 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9209:Itga6
|
UTSW |
2 |
71,671,477 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9267:Itga6
|
UTSW |
2 |
71,668,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9483:Itga6
|
UTSW |
2 |
71,679,834 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9747:Itga6
|
UTSW |
2 |
71,656,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGCCCTATATGAGACCAAGC -3'
(R):5'- CTTTTAGGACTAATTCTGGGATGCC -3'
Sequencing Primer
(F):5'- GGCTTGGAACTCAGATTCTCTAGC -3'
(R):5'- TTCCTTCTCGGGTACCAA -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation