Incidental Mutation 'R9453:Garnl3'
| ID |
714374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R9453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32893881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 694
(I694T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000137381]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049618
AA Change: I653T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: I653T
| 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: I649T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: I649T
| 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: I694T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,054 (GRCm39) |
A179T |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,138,090 (GRCm39) |
|
probably null |
Het |
| Agps |
A |
C |
2: 75,662,585 (GRCm39) |
D10A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,081,578 (GRCm39) |
D1162E |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,239,659 (GRCm39) |
K851R |
unknown |
Het |
| Cdh15 |
A |
G |
8: 123,586,029 (GRCm39) |
D136G |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,190,585 (GRCm39) |
Y459N |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,989,354 (GRCm39) |
K1834* |
probably null |
Het |
| Cfap221 |
C |
T |
1: 119,853,361 (GRCm39) |
V778I |
probably benign |
Het |
| Chpf |
G |
A |
1: 75,452,854 (GRCm39) |
T362I |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,991,069 (GRCm39) |
R36G |
probably damaging |
Het |
| D16Ertd472e |
T |
A |
16: 78,342,052 (GRCm39) |
Q276L |
probably damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,825 (GRCm39) |
Y39H |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,337 (GRCm39) |
T111A |
probably damaging |
Het |
| Ehbp1l1 |
G |
A |
19: 5,758,371 (GRCm39) |
R1714C |
unknown |
Het |
| Flcn |
A |
G |
11: 59,694,609 (GRCm39) |
V121A |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,165,958 (GRCm39) |
D423Y |
probably damaging |
Het |
| Gaa |
A |
C |
11: 119,165,959 (GRCm39) |
D423A |
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,242 (GRCm39) |
Q459L |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,612,655 (GRCm39) |
|
probably null |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lmnb1 |
G |
A |
18: 56,873,114 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,288,832 (GRCm39) |
Y3678C |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,153,981 (GRCm39) |
V699A |
unknown |
Het |
| Mme |
G |
T |
3: 63,272,306 (GRCm39) |
G635V |
possibly damaging |
Het |
| Mroh8 |
A |
T |
2: 157,071,948 (GRCm39) |
I519N |
possibly damaging |
Het |
| Mrps11 |
T |
C |
7: 78,442,390 (GRCm39) |
S157P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,572,061 (GRCm39) |
T153A |
unknown |
Het |
| Nlrp1b |
A |
G |
11: 71,072,913 (GRCm39) |
V310A |
probably damaging |
Het |
| Oas1f |
T |
C |
5: 120,993,592 (GRCm39) |
V268A |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,817 (GRCm39) |
I51N |
|
Het |
| Or6y1 |
A |
T |
1: 174,276,233 (GRCm39) |
T15S |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,479,950 (GRCm39) |
L401P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,016,056 (GRCm39) |
*1022Q |
probably null |
Het |
| Plcl2 |
C |
A |
17: 50,915,391 (GRCm39) |
T800K |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Ppp1r37 |
A |
T |
7: 19,295,796 (GRCm39) |
F54I |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,957,870 (GRCm39) |
Y190F |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,397,212 (GRCm39) |
E2015G |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,579,641 (GRCm39) |
V457A |
|
Het |
| Samd13 |
A |
T |
3: 146,368,510 (GRCm39) |
D27E |
|
Het |
| Sephs1 |
A |
T |
2: 4,889,174 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
T |
G |
19: 6,023,024 (GRCm39) |
Q373P |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
| Src |
A |
T |
2: 157,307,852 (GRCm39) |
T254S |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,569,344 (GRCm39) |
M301K |
possibly damaging |
Het |
| Tnfsf13 |
A |
T |
11: 69,576,010 (GRCm39) |
W26R |
probably damaging |
Het |
| Trbv28 |
T |
A |
6: 41,248,687 (GRCm39) |
D72E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,436,561 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
T |
C |
17: 80,524,754 (GRCm39) |
F471S |
probably damaging |
Het |
| Vav1 |
C |
T |
17: 57,613,191 (GRCm39) |
P621L |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,856 (GRCm39) |
L185* |
probably null |
Het |
| Vmn2r42 |
T |
C |
7: 8,187,295 (GRCm39) |
I826V |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,800,697 (GRCm39) |
T413M |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr83os |
G |
C |
8: 85,808,638 (GRCm39) |
W106C |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,475,917 (GRCm39) |
S72P |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,251 (GRCm39) |
T698S |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,293 (GRCm39) |
T1040I |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,308,565 (GRCm39) |
V9E |
|
Het |
| Zmym2 |
T |
A |
14: 57,180,770 (GRCm39) |
V894E |
probably damaging |
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 |
|
|
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 |
|
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'- TGTGAGTTAAAAGCACATCACAGTG -3'
(R):5'- ATCCCTTCCTGCAACAGAGG -3'
Sequencing Primer
(F):5'- GTCTAAATAGAAGACAATCCCTTGC -3'
(R):5'- ATCTTGGAAGTGTAGCTCCAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation