Incidental Mutation 'R8347:Garnl3'
| ID |
645272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Garnl3
|
| Ensembl Gene |
ENSMUSG00000038860 |
| Gene Name |
GTPase activating RANGAP domain-like 3 |
| Synonyms |
|
| MMRRC Submission |
067867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32876236-33021666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32975903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049618]
[ENSMUST00000102810]
[ENSMUST00000124000]
[ENSMUST00000127509]
[ENSMUST00000133135]
[ENSMUST00000137381]
|
| AlphaFold |
Q3V0G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049618
AA Change: Y25C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860
AA Change: Y25C
| 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: Y21C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860
AA Change: Y21C
| 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: ENSMUST00000124000
AA Change: Y106C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123601
Gene: ENSMUSG00000038860
AA Change: Y106C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127509
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133135
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137381
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,561,153 (GRCm39) |
I170L |
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,797,065 (GRCm39) |
L249P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,578,201 (GRCm39) |
F499L |
probably damaging |
Het |
| Cdhr17 |
G |
A |
5: 17,006,572 (GRCm39) |
M96I |
probably benign |
Het |
| Clec12b |
C |
T |
6: 129,357,450 (GRCm39) |
|
probably null |
Het |
| Col23a1 |
G |
A |
11: 51,462,083 (GRCm39) |
G373D |
probably damaging |
Het |
| Cse1l |
C |
T |
2: 166,769,505 (GRCm39) |
T304I |
possibly damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,932,251 (GRCm39) |
L330* |
probably null |
Het |
| Dbi |
A |
C |
1: 120,048,550 (GRCm39) |
L32R |
possibly damaging |
Het |
| Dennd2c |
A |
G |
3: 103,065,025 (GRCm39) |
Y716C |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,236,812 (GRCm39) |
M379I |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,720,709 (GRCm39) |
D17G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,116,578 (GRCm39) |
S2319N |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,888 (GRCm39) |
K457E |
probably damaging |
Het |
| Efs |
A |
G |
14: 55,157,241 (GRCm39) |
C357R |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,828,174 (GRCm39) |
W516R |
probably damaging |
Het |
| Folh1 |
T |
A |
7: 86,378,326 (GRCm39) |
R529* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,818,198 (GRCm39) |
I4644L |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,898,110 (GRCm39) |
L730P |
probably damaging |
Het |
| Gm19668 |
T |
C |
10: 77,634,221 (GRCm39) |
*249W |
probably null |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,759,947 (GRCm39) |
D54G |
probably benign |
Het |
| Irs2 |
C |
A |
8: 11,058,000 (GRCm39) |
S144I |
possibly damaging |
Het |
| Itgb5 |
T |
C |
16: 33,761,048 (GRCm39) |
C628R |
probably damaging |
Het |
| Kcnh4 |
A |
T |
11: 100,648,575 (GRCm39) |
V43D |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,507 (GRCm39) |
Y69N |
unknown |
Het |
| Lcn12 |
A |
C |
2: 25,382,045 (GRCm39) |
D176E |
possibly damaging |
Het |
| Lilrb4b |
T |
A |
10: 51,357,850 (GRCm39) |
F181L |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,662 (GRCm39) |
H1251Q |
probably benign |
Het |
| Nppb |
C |
A |
4: 148,070,756 (GRCm39) |
L44M |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,626,373 (GRCm39) |
V320A |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,020 (GRCm39) |
W300R |
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,150 (GRCm39) |
S6G |
probably benign |
Het |
| Or5ae2 |
C |
T |
7: 84,505,963 (GRCm39) |
P131S |
probably damaging |
Het |
| Or5ak4 |
T |
A |
2: 85,162,047 (GRCm39) |
H65L |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,462,719 (GRCm39) |
M301V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,245,302 (GRCm39) |
R1530Q |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,034,277 (GRCm39) |
D255N |
possibly damaging |
Het |
| Pgap3 |
TCAGCAGCAGCAGCAGCAG |
TCAGCAGCAGCAGCAG |
11: 98,281,575 (GRCm39) |
|
probably benign |
Het |
| Phip |
A |
G |
9: 82,790,816 (GRCm39) |
I710T |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,365,247 (GRCm39) |
Y108N |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Rint1 |
C |
G |
5: 24,016,770 (GRCm39) |
L512V |
probably damaging |
Het |
| Sdad1 |
A |
C |
5: 92,446,088 (GRCm39) |
F282L |
probably benign |
Het |
| Sirt5 |
G |
T |
13: 43,533,977 (GRCm39) |
A189S |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,646 (GRCm39) |
T247A |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,104,415 (GRCm39) |
K429E |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,957 (GRCm39) |
F721S |
probably benign |
Het |
| Spata31d1e |
T |
A |
13: 59,890,050 (GRCm39) |
D590V |
possibly damaging |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 13,959,883 (GRCm39) |
Y217H |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,060,060 (GRCm39) |
N394S |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,611 (GRCm39) |
Y605* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,196,317 (GRCm39) |
L1447Q |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,446 (GRCm39) |
L690P |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,417 (GRCm39) |
T325A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,539,811 (GRCm39) |
T34392S |
probably benign |
Het |
| Uncx |
A |
G |
5: 139,532,571 (GRCm39) |
E212G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,679,281 (GRCm39) |
T4830A |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,362,345 (GRCm39) |
T1616N |
|
Het |
| Vars1 |
C |
T |
17: 35,234,953 (GRCm39) |
L1261F |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,020 (GRCm39) |
S205P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,423 (GRCm39) |
I363K |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,064,838 (GRCm39) |
M16K |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,962,128 (GRCm39) |
T428I |
possibly damaging |
Het |
| Yeats4 |
A |
T |
10: 117,053,374 (GRCm39) |
L129Q |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,784 (GRCm39) |
R187G |
probably damaging |
Het |
| Zfp853 |
A |
T |
5: 143,274,702 (GRCm39) |
L321Q |
unknown |
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 |
|
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'- TGACCAAATGACCATAACCTTTCAG -3'
(R):5'- AACCTGTTTCATAGCAGCCG -3'
Sequencing Primer
(F):5'- TGACCATAACCTTTCAGCATCAC -3'
(R):5'- GTTTCATAGCAGCCGTTTCTTTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation