Incidental Mutation 'IGL01102:Garnl3'
ID |
50514 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Garnl3
|
Ensembl Gene |
ENSMUSG00000038860 |
Gene Name |
GTPase activating RANGAP domain-like 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
IGL01102
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32896828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 559
(K559E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000137381]
|
AlphaFold |
Q3V0G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049618
AA Change: K563E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000057582 Gene: ENSMUSG00000038860 AA Change: K563E
Domain | Start | End | E-Value | Type |
Pfam:Rap_GAP
|
202 |
383 |
3.4e-73 |
PFAM |
Pfam:CNH
|
475 |
780 |
3.5e-67 |
PFAM |
low complexity region
|
793 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102810
AA Change: K559E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099874 Gene: ENSMUSG00000038860 AA Change: K559E
Domain | Start | End | E-Value | Type |
Pfam:Rap_GAP
|
198 |
385 |
4.6e-67 |
PFAM |
Pfam:CNH
|
471 |
776 |
1.8e-68 |
PFAM |
low complexity region
|
789 |
800 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: K604E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153717
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193214
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
C |
T |
2: 25,323,968 (GRCm39) |
|
probably benign |
Het |
Bloc1s2-ps |
C |
T |
2: 52,509,914 (GRCm39) |
A50V |
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,627,240 (GRCm39) |
L435P |
probably benign |
Het |
Col4a3 |
A |
G |
1: 82,647,441 (GRCm39) |
D455G |
unknown |
Het |
Col4a3 |
A |
G |
1: 82,647,976 (GRCm39) |
I496V |
unknown |
Het |
Coro1c |
A |
T |
5: 113,987,675 (GRCm39) |
M222K |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,410,149 (GRCm39) |
|
probably null |
Het |
Emc4 |
C |
A |
2: 112,197,871 (GRCm39) |
|
probably benign |
Het |
Fcer2a |
T |
C |
8: 3,738,842 (GRCm39) |
D32G |
possibly damaging |
Het |
Fhip1a |
A |
G |
3: 85,572,808 (GRCm39) |
|
probably benign |
Het |
Gckr |
T |
C |
5: 31,466,381 (GRCm39) |
L452P |
probably damaging |
Het |
Gm4841 |
A |
G |
18: 60,403,124 (GRCm39) |
V323A |
probably damaging |
Het |
Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
Gpr75 |
T |
C |
11: 30,841,755 (GRCm39) |
V220A |
probably benign |
Het |
Hdac6 |
A |
G |
X: 7,813,237 (GRCm39) |
S42P |
probably benign |
Het |
Hdhd2 |
A |
G |
18: 77,044,607 (GRCm39) |
N128S |
probably damaging |
Het |
Hsd3b2 |
G |
T |
3: 98,618,995 (GRCm39) |
R317S |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,400,909 (GRCm39) |
I474F |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,255,102 (GRCm39) |
Y954C |
probably benign |
Het |
Itgam |
T |
C |
7: 127,679,445 (GRCm39) |
F196L |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,125 (GRCm39) |
M167T |
probably damaging |
Het |
Mterf4 |
C |
T |
1: 93,232,812 (GRCm39) |
R13H |
possibly damaging |
Het |
Npffr1 |
T |
G |
10: 61,449,987 (GRCm39) |
V87G |
probably damaging |
Het |
Or5h18 |
G |
A |
16: 58,848,192 (GRCm39) |
P26L |
probably benign |
Het |
Or6c76b |
A |
G |
10: 129,692,497 (GRCm39) |
I37V |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,645,423 (GRCm39) |
L386P |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,799,653 (GRCm39) |
I708T |
probably benign |
Het |
Pramel31 |
A |
G |
4: 144,090,195 (GRCm39) |
I412V |
probably benign |
Het |
Ramp2 |
T |
A |
11: 101,138,453 (GRCm39) |
Y85N |
probably benign |
Het |
Rnf217 |
A |
G |
10: 31,484,499 (GRCm39) |
Y228H |
probably damaging |
Het |
Rock1 |
T |
G |
18: 10,080,502 (GRCm39) |
D1014A |
probably benign |
Het |
Scyl3 |
T |
A |
1: 163,762,338 (GRCm39) |
C101* |
probably null |
Het |
Sema6b |
G |
T |
17: 56,439,761 (GRCm39) |
L27I |
possibly damaging |
Het |
Slc10a5 |
A |
G |
3: 10,400,369 (GRCm39) |
V97A |
probably benign |
Het |
Strc |
C |
A |
2: 121,195,541 (GRCm39) |
R1636L |
probably benign |
Het |
Tm9sf1 |
T |
A |
14: 55,880,224 (GRCm39) |
T58S |
probably damaging |
Het |
Tmem106c |
T |
C |
15: 97,864,825 (GRCm39) |
Y85H |
probably damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,990,811 (GRCm39) |
|
probably null |
Het |
Vps13a |
A |
G |
19: 16,628,781 (GRCm39) |
|
probably null |
Het |
Zfp976 |
A |
T |
7: 42,263,333 (GRCm39) |
L168* |
probably null |
Het |
|
Other mutations in Garnl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01601:Garnl3
|
APN |
2 |
32,887,701 (GRCm39) |
nonsense |
probably null |
|
IGL01981:Garnl3
|
APN |
2 |
32,887,741 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02209:Garnl3
|
APN |
2 |
32,975,942 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02434:Garnl3
|
APN |
2 |
32,944,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02512:Garnl3
|
APN |
2 |
32,921,150 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Garnl3
|
APN |
2 |
32,936,606 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4403001:Garnl3
|
UTSW |
2 |
32,880,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0123:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0134:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0225:Garnl3
|
UTSW |
2 |
32,896,816 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0551:Garnl3
|
UTSW |
2 |
32,906,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R0691:Garnl3
|
UTSW |
2 |
32,975,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R0693:Garnl3
|
UTSW |
2 |
32,975,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R0737:Garnl3
|
UTSW |
2 |
32,880,654 (GRCm39) |
missense |
probably damaging |
0.98 |
R1350:Garnl3
|
UTSW |
2 |
32,942,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Garnl3
|
UTSW |
2 |
32,887,675 (GRCm39) |
nonsense |
probably null |
|
R1791:Garnl3
|
UTSW |
2 |
32,924,139 (GRCm39) |
missense |
probably benign |
0.02 |
R1938:Garnl3
|
UTSW |
2 |
32,895,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R2100:Garnl3
|
UTSW |
2 |
32,936,657 (GRCm39) |
missense |
probably benign |
0.35 |
R2316:Garnl3
|
UTSW |
2 |
32,895,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R2353:Garnl3
|
UTSW |
2 |
32,954,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R3161:Garnl3
|
UTSW |
2 |
32,924,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Garnl3
|
UTSW |
2 |
32,879,558 (GRCm39) |
missense |
probably benign |
0.00 |
R3847:Garnl3
|
UTSW |
2 |
32,882,240 (GRCm39) |
missense |
probably benign |
|
R4871:Garnl3
|
UTSW |
2 |
32,977,100 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
R5682:Garnl3
|
UTSW |
2 |
32,944,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5811:Garnl3
|
UTSW |
2 |
32,896,911 (GRCm39) |
missense |
probably damaging |
0.99 |
R6267:Garnl3
|
UTSW |
2 |
32,994,892 (GRCm39) |
missense |
probably benign |
0.20 |
R6502:Garnl3
|
UTSW |
2 |
32,896,833 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6532:Garnl3
|
UTSW |
2 |
32,921,131 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6639:Garnl3
|
UTSW |
2 |
32,879,537 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6763:Garnl3
|
UTSW |
2 |
32,944,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R6866:Garnl3
|
UTSW |
2 |
32,892,785 (GRCm39) |
splice site |
probably null |
|
R6913:Garnl3
|
UTSW |
2 |
32,876,841 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Garnl3
|
UTSW |
2 |
32,944,205 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7168:Garnl3
|
UTSW |
2 |
32,885,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Garnl3
|
UTSW |
2 |
32,924,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R7746:Garnl3
|
UTSW |
2 |
32,882,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7919:Garnl3
|
UTSW |
2 |
32,936,611 (GRCm39) |
missense |
probably benign |
0.38 |
R8079:Garnl3
|
UTSW |
2 |
32,908,511 (GRCm39) |
critical splice donor site |
probably null |
|
R8087:Garnl3
|
UTSW |
2 |
32,935,548 (GRCm39) |
missense |
probably benign |
0.01 |
R8123:Garnl3
|
UTSW |
2 |
32,994,950 (GRCm39) |
missense |
probably damaging |
0.97 |
R8170:Garnl3
|
UTSW |
2 |
32,905,235 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8347:Garnl3
|
UTSW |
2 |
32,975,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R8418:Garnl3
|
UTSW |
2 |
32,942,158 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8679:Garnl3
|
UTSW |
2 |
32,916,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R8940:Garnl3
|
UTSW |
2 |
32,895,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9081:Garnl3
|
UTSW |
2 |
32,896,920 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9183:Garnl3
|
UTSW |
2 |
32,895,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R9213:Garnl3
|
UTSW |
2 |
32,895,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R9219:Garnl3
|
UTSW |
2 |
32,975,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R9453:Garnl3
|
UTSW |
2 |
32,893,881 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Garnl3
|
UTSW |
2 |
32,912,680 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Garnl3
|
UTSW |
2 |
32,916,161 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Garnl3
|
UTSW |
2 |
32,895,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2013-06-21 |