Incidental Mutation 'IGL02069:Gm1527'
| ID |
185751 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm1527
|
| Ensembl Gene |
ENSMUSG00000074655 |
| Gene Name |
predicted gene 1527 |
| Synonyms |
LOC385263 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL02069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
28946768-28980874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28980763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 621
(N621S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099170]
|
| AlphaFold |
Q3V0P3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099170
AA Change: N621S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: N621S
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
119 |
2.37e-6 |
SMART |
|
Pfam:RA
|
125 |
214 |
1.7e-8 |
PFAM |
|
RhoGAP
|
300 |
471 |
2.8e-29 |
SMART |
|
transmembrane domain
|
623 |
645 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,742,500 (GRCm39) |
V569M |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,805 (GRCm39) |
V2016A |
probably benign |
Het |
| Apcdd1 |
T |
A |
18: 63,083,054 (GRCm39) |
W295R |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 67,933,229 (GRCm39) |
D648V |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,091,700 (GRCm39) |
|
probably benign |
Het |
| Cst12 |
A |
T |
2: 148,634,368 (GRCm39) |
D101V |
probably damaging |
Het |
| Cyp46a1 |
T |
A |
12: 108,312,394 (GRCm39) |
Y135N |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,161,007 (GRCm39) |
S1046G |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,935,745 (GRCm39) |
Y122* |
probably null |
Het |
| Disp2 |
T |
A |
2: 118,621,161 (GRCm39) |
I631N |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,794,773 (GRCm39) |
I387V |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,601,053 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,873,949 (GRCm39) |
F954S |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,779,731 (GRCm39) |
G560D |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,122,685 (GRCm39) |
A69D |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,767,070 (GRCm39) |
D143E |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,100,667 (GRCm39) |
R144* |
probably null |
Het |
| Fip1l1 |
A |
G |
5: 74,752,534 (GRCm39) |
D402G |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,821,788 (GRCm39) |
S2107P |
probably damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,314 (GRCm39) |
D54N |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,384,768 (GRCm39) |
|
probably benign |
Het |
| Il17d |
G |
T |
14: 57,779,972 (GRCm39) |
E165* |
probably null |
Het |
| Kmt5b |
A |
T |
19: 3,857,335 (GRCm39) |
K364M |
probably damaging |
Het |
| Ldb1 |
C |
A |
19: 46,021,617 (GRCm39) |
W390L |
possibly damaging |
Het |
| Lgmn |
T |
C |
12: 102,370,558 (GRCm39) |
E124G |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,933,806 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,646,763 (GRCm39) |
G323S |
possibly damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,491,044 (GRCm39) |
T962A |
probably benign |
Het |
| Ptger1 |
A |
G |
8: 84,396,086 (GRCm39) |
E381G |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,624,761 (GRCm39) |
|
probably benign |
Het |
| Serpine2 |
T |
A |
1: 79,799,129 (GRCm39) |
I42F |
possibly damaging |
Het |
| Sh3tc1 |
C |
T |
5: 35,876,339 (GRCm39) |
R122Q |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,579,613 (GRCm39) |
I347V |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,725 (GRCm39) |
Y80H |
probably damaging |
Het |
| Spata16 |
C |
A |
3: 26,786,944 (GRCm39) |
C207* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,974,186 (GRCm39) |
Q1128R |
probably benign |
Het |
| Tamalin |
A |
G |
15: 101,122,346 (GRCm39) |
Y55C |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,968,718 (GRCm39) |
N405I |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,661,429 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm1527 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Gm1527
|
APN |
3 |
28,949,737 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02794:Gm1527
|
APN |
3 |
28,949,829 (GRCm39) |
missense |
unknown |
|
|
IGL03285:Gm1527
|
APN |
3 |
28,974,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Gm1527
|
UTSW |
3 |
28,972,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0316:Gm1527
|
UTSW |
3 |
28,969,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:Gm1527
|
UTSW |
3 |
28,980,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1411:Gm1527
|
UTSW |
3 |
28,968,632 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1458:Gm1527
|
UTSW |
3 |
28,972,199 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1470:Gm1527
|
UTSW |
3 |
28,969,417 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1470:Gm1527
|
UTSW |
3 |
28,969,417 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1476:Gm1527
|
UTSW |
3 |
28,980,705 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1523:Gm1527
|
UTSW |
3 |
28,974,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Gm1527
|
UTSW |
3 |
28,953,002 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1649:Gm1527
|
UTSW |
3 |
28,952,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Gm1527
|
UTSW |
3 |
28,975,783 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1760:Gm1527
|
UTSW |
3 |
28,949,699 (GRCm39) |
splice site |
probably benign |
|
|
R1857:Gm1527
|
UTSW |
3 |
28,957,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Gm1527
|
UTSW |
3 |
28,969,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2063:Gm1527
|
UTSW |
3 |
28,980,796 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2080:Gm1527
|
UTSW |
3 |
28,980,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2115:Gm1527
|
UTSW |
3 |
28,972,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2440:Gm1527
|
UTSW |
3 |
28,949,764 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3799:Gm1527
|
UTSW |
3 |
28,980,745 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4012:Gm1527
|
UTSW |
3 |
28,952,969 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4132:Gm1527
|
UTSW |
3 |
28,974,779 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4234:Gm1527
|
UTSW |
3 |
28,968,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Gm1527
|
UTSW |
3 |
28,949,874 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4528:Gm1527
|
UTSW |
3 |
28,968,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4567:Gm1527
|
UTSW |
3 |
28,968,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4795:Gm1527
|
UTSW |
3 |
28,974,812 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4796:Gm1527
|
UTSW |
3 |
28,974,812 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5127:Gm1527
|
UTSW |
3 |
28,957,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Gm1527
|
UTSW |
3 |
28,972,239 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5890:Gm1527
|
UTSW |
3 |
28,969,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6024:Gm1527
|
UTSW |
3 |
28,974,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7092:Gm1527
|
UTSW |
3 |
28,968,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7128:Gm1527
|
UTSW |
3 |
28,969,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7197:Gm1527
|
UTSW |
3 |
28,980,690 (GRCm39) |
missense |
probably null |
0.00 |
|
R7308:Gm1527
|
UTSW |
3 |
28,956,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7360:Gm1527
|
UTSW |
3 |
28,968,691 (GRCm39) |
nonsense |
probably null |
|
|
R7380:Gm1527
|
UTSW |
3 |
28,974,621 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7566:Gm1527
|
UTSW |
3 |
28,974,767 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7864:Gm1527
|
UTSW |
3 |
28,980,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7896:Gm1527
|
UTSW |
3 |
28,975,742 (GRCm39) |
splice site |
probably null |
|
|
R8261:Gm1527
|
UTSW |
3 |
28,974,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Gm1527
|
UTSW |
3 |
28,980,744 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9106:Gm1527
|
UTSW |
3 |
28,956,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9615:Gm1527
|
UTSW |
3 |
28,969,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0021:Gm1527
|
UTSW |
3 |
28,974,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Gm1527
|
UTSW |
3 |
28,968,649 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-05-07 |
Incidental Mutation