Incidental Mutation 'IGL02794:Gm1527'
| ID |
359876 |
| 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 # |
IGL02794
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
28946768-28980874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28949829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 30
(T30A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099170]
|
| AlphaFold |
Q3V0P3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000099170
AA Change: T30A
|
| SMART Domains |
Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: T30A
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,385 (GRCm39) |
C1082S |
probably benign |
Het |
| Akt2 |
G |
T |
7: 27,328,806 (GRCm39) |
R176L |
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,795,018 (GRCm39) |
Y484H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,209 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp1a4 |
T |
C |
1: 172,071,653 (GRCm39) |
M481V |
probably benign |
Het |
| Atraid |
G |
A |
5: 31,210,214 (GRCm39) |
S135N |
probably damaging |
Het |
| Camta2 |
C |
T |
11: 70,566,484 (GRCm39) |
G677D |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,319,614 (GRCm39) |
N545S |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,069 (GRCm39) |
D1105G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,623,957 (GRCm39) |
M4K |
unknown |
Het |
| Crnkl1 |
C |
T |
2: 145,772,532 (GRCm39) |
E182K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,847,847 (GRCm39) |
C114S |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,174,788 (GRCm39) |
Y496N |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,910 (GRCm39) |
V1528A |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,752 (GRCm39) |
T88M |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,041,928 (GRCm39) |
N767S |
probably benign |
Het |
| Gorasp2 |
C |
A |
2: 70,509,838 (GRCm39) |
Y166* |
probably null |
Het |
| Gucy2c |
T |
A |
6: 136,690,146 (GRCm39) |
Q744L |
probably damaging |
Het |
| Heg1 |
A |
T |
16: 33,546,992 (GRCm39) |
N593I |
probably damaging |
Het |
| Ice1 |
T |
A |
13: 70,757,278 (GRCm39) |
S236C |
possibly damaging |
Het |
| Il12b |
T |
C |
11: 44,298,808 (GRCm39) |
Y88H |
probably damaging |
Het |
| Izumo3 |
C |
T |
4: 92,035,200 (GRCm39) |
V6I |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,715,515 (GRCm39) |
V458A |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,040,889 (GRCm39) |
R1659Q |
probably benign |
Het |
| Klk1b1 |
A |
G |
7: 43,619,789 (GRCm39) |
D116G |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,917,227 (GRCm39) |
T2233A |
possibly damaging |
Het |
| Lin9 |
A |
T |
1: 180,479,444 (GRCm39) |
K59N |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,838,709 (GRCm39) |
E1083G |
probably damaging |
Het |
| Mfsd11 |
T |
A |
11: 116,750,177 (GRCm39) |
S105T |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,776,770 (GRCm39) |
I1768N |
possibly damaging |
Het |
| Mical3 |
C |
A |
6: 120,984,270 (GRCm39) |
G202V |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,806,911 (GRCm39) |
I1719F |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,867 (GRCm39) |
F120Y |
possibly damaging |
Het |
| Or52e8 |
T |
A |
7: 104,624,596 (GRCm39) |
M203L |
probably benign |
Het |
| Or8b56 |
T |
A |
9: 38,739,511 (GRCm39) |
C175S |
probably damaging |
Het |
| Or8k32 |
T |
C |
2: 86,368,492 (GRCm39) |
T256A |
possibly damaging |
Het |
| Pidd1 |
T |
C |
7: 141,023,021 (GRCm39) |
Y57C |
probably benign |
Het |
| Pik3cd |
T |
A |
4: 149,739,028 (GRCm39) |
M671L |
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,740,885 (GRCm39) |
V361A |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,096,725 (GRCm39) |
V743A |
probably benign |
Het |
| Siglec1 |
C |
A |
2: 130,917,889 (GRCm39) |
S996I |
possibly damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,957,206 (GRCm39) |
R948G |
possibly damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,668 (GRCm39) |
Y537* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,584,638 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,944,760 (GRCm39) |
P1109S |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,975,070 (GRCm39) |
N513Y |
probably damaging |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
T |
C |
7: 127,603,704 (GRCm39) |
C17R |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,268,785 (GRCm39) |
C1956R |
probably damaging |
Het |
| Vmn1r211 |
G |
T |
13: 23,036,379 (GRCm39) |
T96N |
possibly damaging |
Het |
| Vmn1r211 |
C |
A |
13: 23,036,376 (GRCm39) |
S97I |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,377 (GRCm39) |
S97C |
probably damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,623 (GRCm39) |
S596T |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,611,602 (GRCm39) |
S454P |
possibly damaging |
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 |
|
|
IGL02069:Gm1527
|
APN |
3 |
28,980,763 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
2015-12-18 |
Incidental Mutation