Incidental Mutation 'R0737:Garnl3'
ID |
70496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Garnl3
|
Ensembl Gene |
ENSMUSG00000038860 |
Gene Name |
GTPase activating RANGAP domain-like 3 |
Synonyms |
|
MMRRC Submission |
038918-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R0737 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32880654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 868
(I868F)
|
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: I872F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000057582 Gene: ENSMUSG00000038860 AA Change: I872F
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: I868F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099874 Gene: ENSMUSG00000038860 AA Change: I868F
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 |
possibly damaging
Transcript: ENSMUST00000137381
AA Change: I913F
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
T |
A |
X: 69,437,813 (GRCm39) |
|
probably benign |
Het |
Aff4 |
T |
A |
11: 53,301,780 (GRCm39) |
L1043* |
probably null |
Het |
Ankrd11 |
G |
T |
8: 123,622,575 (GRCm39) |
R426S |
probably damaging |
Het |
Atm |
T |
A |
9: 53,367,866 (GRCm39) |
N2422I |
probably damaging |
Het |
Bahcc1 |
C |
A |
11: 120,163,667 (GRCm39) |
P655Q |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,951,949 (GRCm39) |
I556V |
possibly damaging |
Het |
Ccdc33 |
T |
C |
9: 57,989,331 (GRCm39) |
D114G |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,255,612 (GRCm39) |
H424R |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,438,299 (GRCm39) |
E864G |
possibly damaging |
Het |
Cit |
T |
A |
5: 116,084,978 (GRCm39) |
S836R |
probably damaging |
Het |
Clip4 |
C |
T |
17: 72,144,694 (GRCm39) |
Q95* |
probably null |
Het |
Col17a1 |
C |
T |
19: 47,657,872 (GRCm39) |
G433S |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,756,020 (GRCm39) |
F90L |
probably damaging |
Het |
Cybc1 |
C |
T |
11: 121,118,068 (GRCm39) |
|
probably null |
Het |
Degs1l |
G |
A |
1: 180,882,944 (GRCm39) |
M235I |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,998,724 (GRCm39) |
H1108R |
probably damaging |
Het |
Elac1 |
A |
T |
18: 73,872,110 (GRCm39) |
M295K |
probably damaging |
Het |
Epas1 |
G |
T |
17: 87,136,884 (GRCm39) |
G816C |
possibly damaging |
Het |
Ermap |
C |
A |
4: 119,035,707 (GRCm39) |
C427F |
probably damaging |
Het |
Fbxo44 |
T |
C |
4: 148,243,266 (GRCm39) |
|
probably benign |
Het |
Fmo4 |
T |
A |
1: 162,635,961 (GRCm39) |
K14* |
probably null |
Het |
Gadl1 |
G |
A |
9: 115,903,055 (GRCm39) |
M461I |
probably damaging |
Het |
Gm7168 |
A |
G |
17: 14,169,245 (GRCm39) |
D204G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 120,106,795 (GRCm39) |
F401S |
possibly damaging |
Het |
Kcnmb1 |
A |
T |
11: 33,914,701 (GRCm39) |
M1L |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,984,620 (GRCm39) |
T292A |
probably benign |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lamb2 |
T |
A |
9: 108,360,993 (GRCm39) |
W572R |
probably benign |
Het |
Letmd1 |
A |
G |
15: 100,367,702 (GRCm39) |
T87A |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,278,513 (GRCm39) |
Y3947H |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,822,044 (GRCm39) |
F685L |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,001,285 (GRCm39) |
F424I |
probably damaging |
Het |
Nup88 |
A |
G |
11: 70,860,776 (GRCm39) |
M1T |
probably null |
Het |
Or13p5 |
C |
T |
4: 118,592,421 (GRCm39) |
R232C |
probably benign |
Het |
Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
Or4c29 |
T |
C |
2: 88,740,617 (GRCm39) |
N40S |
probably damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,570,762 (GRCm39) |
V636D |
probably damaging |
Het |
Pclo |
C |
A |
5: 14,565,453 (GRCm39) |
A73E |
probably damaging |
Het |
Pdlim7 |
A |
T |
13: 55,652,693 (GRCm39) |
|
probably null |
Het |
Phldb1 |
G |
A |
9: 44,610,933 (GRCm39) |
P67S |
possibly damaging |
Het |
Ppp2r2b |
T |
C |
18: 43,192,257 (GRCm39) |
T17A |
probably benign |
Het |
Ppp4r3c2 |
A |
G |
X: 88,797,926 (GRCm39) |
H586R |
probably benign |
Het |
Rab11fip4 |
T |
C |
11: 79,574,328 (GRCm39) |
V241A |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,768,690 (GRCm39) |
L216P |
probably damaging |
Het |
Slco1a8 |
G |
T |
6: 141,949,154 (GRCm39) |
A74E |
possibly damaging |
Het |
Smg6 |
T |
A |
11: 75,050,662 (GRCm39) |
D1352E |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,985,942 (GRCm39) |
I816F |
probably damaging |
Het |
Tex264 |
T |
C |
9: 106,536,498 (GRCm39) |
T220A |
probably benign |
Het |
Tmco6 |
G |
A |
18: 36,874,829 (GRCm39) |
V439I |
probably damaging |
Het |
Tmem64 |
A |
G |
4: 15,266,717 (GRCm39) |
I256V |
probably damaging |
Het |
Tnks1bp1 |
A |
G |
2: 84,882,880 (GRCm39) |
S236G |
possibly damaging |
Het |
Tsc1 |
A |
G |
2: 28,560,942 (GRCm39) |
T267A |
possibly damaging |
Het |
Txndc2 |
A |
G |
17: 65,946,548 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
G |
A |
17: 18,497,695 (GRCm39) |
Q26* |
probably null |
Het |
Zan |
T |
C |
5: 137,387,511 (GRCm39) |
D4900G |
unknown |
Het |
Zkscan3 |
T |
C |
13: 21,572,766 (GRCm39) |
T122A |
probably benign |
Het |
|
Other mutations in Garnl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01102:Garnl3
|
APN |
2 |
32,896,828 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGGAAATGGTACAGTATTCTCTGGTG -3'
(R):5'- TGAGCCTAAAGTTCTGGTCTTTTCCGA -3'
Sequencing Primer
(F):5'- agccctctctccagccc -3'
(R):5'- CGAATTGTGTTTCAGGTGAAATTCAG -3'
|
Posted On |
2013-09-30 |