Incidental Mutation 'R6913:Garnl3'
| ID |
539141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
045034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R6913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32876841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 937
(I937F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028129]
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000137381]
[ENSMUST00000153484]
[ENSMUST00000193695]
[ENSMUST00000194066]
[ENSMUST00000195863]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028129
|
| SMART Domains |
Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
26 |
425 |
2e-22 |
PFAM |
|
Pfam:Sugar_tr
|
29 |
474 |
2.7e-98 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049618
AA Change: I941F
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: I941F
| 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 |
possibly damaging
Transcript: ENSMUST00000102810
AA Change: I937F
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: I937F
| 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: I982F
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153484
|
| SMART Domains |
Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
26 |
296 |
1.4e-18 |
PFAM |
|
Pfam:Sugar_tr
|
29 |
295 |
1.5e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193695
|
| SMART Domains |
Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
26 |
290 |
1.2e-18 |
PFAM |
|
Pfam:Sugar_tr
|
29 |
290 |
1.4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194066
|
| SMART Domains |
Protein: ENSMUSP00000141969
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195863
|
| SMART Domains |
Protein: ENSMUSP00000141879
Gene: ENSMUSG00000026791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
1 |
60 |
8.7e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,197,494 (GRCm39) |
I619N |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,696,488 (GRCm39) |
K41E |
possibly damaging |
Het |
| Actr6 |
T |
C |
10: 89,562,558 (GRCm39) |
E107G |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,771,100 (GRCm39) |
M9L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,215,778 (GRCm39) |
H266Q |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,877,017 (GRCm39) |
F1208S |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,650 (GRCm39) |
D734G |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,962,972 (GRCm39) |
V43A |
possibly damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,387,390 (GRCm39) |
V79A |
probably damaging |
Het |
| Aste1 |
T |
A |
9: 105,274,607 (GRCm39) |
S221R |
probably benign |
Het |
| Ccndbp1 |
G |
A |
2: 120,840,347 (GRCm39) |
E94K |
probably benign |
Het |
| Cdc34 |
G |
A |
10: 79,520,937 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,348,896 (GRCm39) |
D67G |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,451,951 (GRCm39) |
E1348G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,642,909 (GRCm39) |
Q216* |
probably null |
Het |
| Cse1l |
G |
A |
2: 166,771,797 (GRCm39) |
V353I |
possibly damaging |
Het |
| Ctbp2 |
G |
A |
7: 132,616,455 (GRCm39) |
S160F |
possibly damaging |
Het |
| Cyp1a1 |
C |
A |
9: 57,607,576 (GRCm39) |
T68K |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,383,851 (GRCm39) |
N397S |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,374 (GRCm39) |
M594K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,189,505 (GRCm39) |
E48K |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,647,049 (GRCm39) |
V35A |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,568,594 (GRCm39) |
S73R |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,424,242 (GRCm39) |
N3065S |
probably damaging |
Het |
| Gal3st4 |
A |
T |
5: 138,269,090 (GRCm39) |
S123R |
possibly damaging |
Het |
| Gfod2 |
C |
T |
8: 106,443,995 (GRCm39) |
V183M |
possibly damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,898,339 (GRCm39) |
|
probably null |
Het |
| Gm7145 |
T |
G |
1: 117,913,711 (GRCm39) |
C198G |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H2-Eb2 |
G |
A |
17: 34,552,523 (GRCm39) |
A123T |
possibly damaging |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,129 (GRCm39) |
I7V |
probably benign |
Het |
| Itpripl2 |
G |
T |
7: 118,090,332 (GRCm39) |
P76T |
possibly damaging |
Het |
| Kat6a |
C |
A |
8: 23,393,215 (GRCm39) |
A231E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,757,705 (GRCm39) |
V255I |
probably benign |
Het |
| Mamstr |
A |
T |
7: 45,292,662 (GRCm39) |
M141L |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,210,702 (GRCm39) |
V480A |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,973,810 (GRCm39) |
N523S |
probably benign |
Het |
| Mill2 |
A |
G |
7: 18,590,351 (GRCm39) |
T144A |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,553,959 (GRCm39) |
L4111F |
unknown |
Het |
| Mylk2 |
G |
A |
2: 152,755,610 (GRCm39) |
G258E |
possibly damaging |
Het |
| Myom2 |
T |
G |
8: 15,115,710 (GRCm39) |
S42A |
probably benign |
Het |
| Nab1 |
C |
A |
1: 52,503,995 (GRCm39) |
G401C |
possibly damaging |
Het |
| Nifk |
T |
C |
1: 118,260,592 (GRCm39) |
V244A |
possibly damaging |
Het |
| Nipsnap2 |
C |
A |
5: 129,830,357 (GRCm39) |
Q224K |
probably benign |
Het |
| Nop16 |
T |
G |
13: 54,737,553 (GRCm39) |
K47Q |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,853,192 (GRCm39) |
S548R |
probably damaging |
Het |
| Or2at1 |
A |
C |
7: 99,416,924 (GRCm39) |
D185A |
probably damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,347 (GRCm39) |
M1V |
probably null |
Het |
| Or5b111 |
A |
G |
19: 13,290,998 (GRCm39) |
I217T |
probably benign |
Het |
| Pard6g |
G |
A |
18: 80,160,534 (GRCm39) |
V216I |
possibly damaging |
Het |
| Pcdh20 |
C |
T |
14: 88,706,038 (GRCm39) |
V421I |
probably benign |
Het |
| Pcif1 |
G |
A |
2: 164,726,224 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
A |
2: 76,168,084 (GRCm39) |
V290F |
probably damaging |
Het |
| Pisd |
T |
C |
5: 32,894,773 (GRCm39) |
Y511C |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,110,405 (GRCm39) |
D276E |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,549,496 (GRCm39) |
V906A |
probably damaging |
Het |
| Prkcg |
C |
T |
7: 3,362,335 (GRCm39) |
P270S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,281 (GRCm39) |
I884F |
probably damaging |
Het |
| Rpl13 |
C |
A |
8: 123,830,014 (GRCm39) |
N113K |
possibly damaging |
Het |
| Rxra |
T |
A |
2: 27,631,186 (GRCm39) |
I139N |
probably damaging |
Het |
| Sf3b5 |
T |
A |
10: 12,884,487 (GRCm39) |
C41S |
probably benign |
Het |
| Spata31e3 |
G |
T |
13: 50,399,293 (GRCm39) |
P1011H |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,540,221 (GRCm39) |
R126Q |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,963 (GRCm39) |
D77G |
possibly damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,468,452 (GRCm39) |
C566S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,751,972 (GRCm39) |
M948K |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,894,444 (GRCm39) |
Q693L |
possibly damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,172,126 (GRCm39) |
C61* |
probably null |
Het |
| Trp63 |
A |
G |
16: 25,707,918 (GRCm39) |
E636G |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,266 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,660,755 (GRCm39) |
|
probably benign |
Het |
| Vamp1 |
T |
A |
6: 125,195,908 (GRCm39) |
V55D |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,698,537 (GRCm39) |
N12S |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,924,323 (GRCm39) |
G41S |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,007,775 (GRCm39) |
D71E |
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 |
|
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 |
|
|
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'- GCTGCTTGAACAGTATAAATTTGCG -3'
(R):5'- CCAGCTTCACAGAGTGCTAG -3'
Sequencing Primer
(F):5'- AGGGCATAGACTCTATTTCAAGTC -3'
(R):5'- CTTCACAGAGTGCTAGGGAGGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation